1,020 results on '"Bergmann, Carsten"'
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2. Differenzierte Herangehensweise und Testung seltener genetischer Erkrankungen im Kindes- und Jugendalter
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Bachmann, Nadine, Auber, Bernd, Das, Anibh, Distelmaier, Felix, Gabriel, Heinz, Himmelreich, Nastassja, Lemke, Johannes, and Bergmann, Carsten
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- 2024
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3. Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group
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Mekahli, Djalila, Müller, Roman-Ulrich, Marlais, Matko, Wlodkowski, Tanja, Haeberle, Stefanie, de Argumedo, Marta López, Bergmann, Carsten, Breysem, Luc, Fladrowski, Carla, Henske, Elizabeth P., Janssens, Peter, Jouret, François, Kingswood, John Christopher, Lattouf, Jean-Baptiste, Lilien, Marc, Maleux, Geert, Rozenberg, Micaela, Siemer, Stefan, Devuyst, Olivier, Schaefer, Franz, Kwiatkowski, David J., Rouvière, Olivier, and Bissler, John
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- 2024
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4. SGLT2-Inhibition in Patients With Alport Syndrome
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Boeckhaus, Jan, Gale, Daniel P., Simon, James, Ding, Jie, Zhang, Yanqin, Bergmann, Carsten, Turner, A. Neil, Hall, Matthew, Sayer, John A., Srivastava, Shalabh, Kang, Hee Gyung, Cerkauskaite-Kerpauskiene, Agne, Gillion, Valentine, Claes, Kathleen J., Krueger, Bastian, de Fallois, Jonathan, Walden, Ulrike, Choi, Mira, Schueler, Markus, Mueller, Roman-Ulrich, Todorova, Polina, Hohenstein, Bernd, Zeisberg, Michael, Friede, Tim, Knebelmann, Bertrand, Halbritter, Jan, and Gross, Oliver
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- 2024
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5. Medizinische Genetik
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Spranger, Stephanie, primary, Bergmann, Carsten, additional, and Bachmann, Nadine, additional
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- 2024
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6. Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
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Ariceta, Gema, Benetti, Elisa, Benz, Marcus R., Bjerre, Anna, Boudailliez, Bernard R., Bouts, Antonia, Drube, Jens, Gjerstad, Ann Christin, Jankauskiene, Augustina, Jávorszky, Eszter, Jay, Nadine, Kirschstein, Martin, Varda, Nataša Marčun, Niel, Olivier, Nobili, François, Pietrement, Christine, Ruzgiene, Dovile, Schild, Raphael, Staude, Hagen, Tory, Kálmán, Tsimaratos, Michel, Walden, Ulrike, Zappel, Hildegard, Buffin-Meyer, Bénédicte, Richard, Juliette, Guigonis, Vincent, Weber, Stefanie, König, Jens, Heidet, Laurence, Moussaoui, Nabila, Vu, Jeanne-Pierrette, Faguer, Stanislas, Casemayou, Audrey, Prakash, Richa, Baudouin, Véronique, Hogan, Julien, Alexandrou, Demi, Bockenhauer, Detlef, Bacchetta, Justine, Ranchin, Bruno, Pruhova, Stepanka, Zieg, Jakub, Lahoche, Annie, Okorn, Christine, Antal-Kónya, Violetta, Morin, Denis, Becherucci, Francesca, Habbig, Sandra, Liebau, Max C., Mauras, Mathilde, Nijenhuis, Tom, Llanas, Brigitte, Mekahli, Djalila, Thumfart, Julia, Tönshoff, Burkhard, Massella, Laura, Eckart, Philippe, Cloarec, Sylvie, Cruz, Alejandro, Patzer, Ludwig, Roussey, Gwenaelle, Vrillon, Isabelle, Dunand, Olivier, Bessenay, Lucie, Taroni, Francesca, Zaniew, Marcin, Louillet, Ferielle, Bergmann, Carsten, Schaefer, Franz, van Eerde, Albertien M., Schanstra, Joost P., and Decramer, Stéphane
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- 2024
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7. Pathogenic PHIP Variants are Variably Associated With CAKUT
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de Fallois, Jonathan, Sieckmann, Tobias, Schönauer, Ria, Petzold, Friederike, Münch, Johannes, Pauly, Melissa, Vasileiou, Georgia, Findeisen, Christin, Kampmeier, Antje, Kuechler, Alma, Reis, André, Decker, Eva, Bergmann, Carsten, Platzer, Konrad, Tasic, Velibor, Kirschner, Karin Michaela, Shril, Shirlee, Hildebrandt, Friedhelm, Chung, Wendy K., and Halbritter, Jan
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- 2024
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8. Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort
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Abat, Sharirose, Adalat, Shazia, Agbonmwandolor, Joy, Ahmad, Zubaidah, Alejmi, Abdulfattah, Almasarwah, Rashid, Annear, Nicholas, Asgari, Ellie, Ayers, Amanda, Baharani, Jyoti, Balasubramaniam, Gowrie, Kpodo, Felix Jo-Bamba, Bansal, Tarun, Barratt, Alison, Barratt, Jonathan, Bates, Megan, Bayne, Natalie, Bendle, Janet, Benyon, Sarah, Bergmann, Carsten, Bhandari, Sunil, Bingham, Coralie, Boddana, Preetham, Bond, Sally, Braddon, Fiona, Bramham, Kate, Branson, Angela, Brearey, Stephen, Brocklebank, Vicky, Budwal, Sharanjit, Byrne, Conor, Cairns, Hugh, Camilleri, Brian, Campbell, Gary, Capell, Alys, Carmody, Margaret, Carson, Marion, Cathcart, Tracy, Catley, Christine, Cesar, Karine, Chan, Melanie, Chea, Houda, Chess, James, Cheung, Chee Kay, Chick, Katy-Jane, Chitalia, Nihil, Christian, Martin, Chrysochou, Tina, Clark, Katherine, Clayton, Christopher, Clissold, Rhian, Cockerill, Helen, Coelho, Joshua, Colby, Elizabeth, Colclough, Viv, Conway, Eileen, Cook, H. Terence, Cook, Wendy, Cooper, Theresa, Coward, Richard J., Crosbie, Sarah, Cserep, Gabor, Date, Anjali, Davidson, Katherine, Davies, Amanda, Dhaun, Neeraj, Dhaygude, Ajay, Diskin, Lynn, Dixit, Abhijit, Doctolero, Eunice Ann, Dorey, Suzannah, Downard, Lewis, Drayson, Mark, Dreyer, Gavin, Dutt, Tina, Etuk, Kufreabasi, Evans, Dawn, Finch, Jenny, Flinter, Frances, Fotheringham, James, Francis, Lucy, Gale, Daniel P., Gallagher, Hugh, Game, David, Garcia, Eva Lozano, Gavrila, Madita, Gear, Susie, Geddes, Colin, Gilchrist, Mark, Gittus, Matt, Goggolidou, Paraskevi, Goldsmith, Christopher, Gooden, Patricia, Goodlife, Andrea, Goodwin, Priyanka, Grammatikopoulos, Tassos, Gray, Barry, Griffith, Megan, Gumus, Steph, Gupta, Sanjana, Hamilton, Patrick, Harper, Lorraine, Harris, Tess, Haskell, Louise, Hayward, Samantha, Hegde, Shivaram, Hendry, Bruce, Hewins, Sue, Hewitson, Nicola, Hillman, Kate, Hiremath, Mrityunjay, Howson, Alexandra, Htet, Zay, Huish, Sharon, Hull, Richard, Humphries, Alister, Hunt, David P.J., Hunter, Karl, Hunter, Samantha, Ijeomah-Orji, Marilyn, Inston, Nick, Jayne, David, Jenfa, Gbemisola, Jenkins, Alison, Johnson, Sally, Jones, Caroline A., Jones, Colin, Jones, Amanda, Jones, Rachel, Kamesh, Lavanya, Kanigicherla, Durga, Frankl, Fiona Karet, Karim, Mahzuz, Kaur, Amrit, Kavanagh, David, Kearley, Kelly, Kerecuk, Larissa, Khwaja, Arif, King, Garry, King, Grant, Kislowska, Ewa, Klata, Edyta, Kokocinska, Maria, Lambie, Mark, Lawless, Laura, Ledson, Thomas, Lennon, Rachel, Levine, Adam P., Maggie Lai, Ling Wai, Lipkin, Graham, Lovitt, Graham, Lyons, Paul, Mabillard, Holly, Mackintosh, Katherine, Mahdi, Khalid, Maher, Eamonn, Marchbank, Kevin J., Mark, Patrick B., Masoud, Sherry, Masunda, Bridgett, Mavani, Zainab, Mayfair, Jake, McAdoo, Stephen, Mckinnell, Joanna, Melhem, Nabil, Meyrick, Simon, Moochhala, Shabbir, Morgan, Putnam, Morgan, Ann, Muhammad, Fawad, Murray, Shona, Novobritskaya, Kristina, Ong, Albert CM., Oni, Louise, Osmaston, Kate, Padmanabhan, Neal, Parkes, Sharon, Patrick, Jean, Pattison, James, Paul, Riny, Percival, Rachel, Perkins, Stephen J., Persu, Alexandre, Petchey, William G., Pickering, Matthew C., Pinney, Jennifer, Pitcher, David, Plumb, Lucy, Plummer, Zoe, Popoola, Joyce, Post, Frank, Power, Albert, Pratt, Guy, Pusey, Charles, Rabara, Ria, Rabuya, May, Raju, Tina, Javier, Chadd, Roberts, Ian SD., Roufosse, Candice, Rumjon, Adam, Salama, Alan, Saleem, Moin, Sandford, R.N., Sandu, Kanwaljit S., Sarween, Nadia, Sayer, John A., Sebire, Neil, Selvaskandan, Haresh, Shah, Sapna, Sharma, Asheesh, Sharples, Edward J., Sheerin, Neil, Shetty, Harish, Shroff, Rukshana, Simms, Roslyn, Sinha, Manish, Sinha, Smeeta, Smith, Kerry, Smith, Lara, Srivastava, Shalabh, Steenkamp, Retha, Stott, Ian, Stroud, Katerina, Swift, Pauline, Szklarzewicz, Justyna, Tam, Fred, Tan, Kay, Taylor, Robert, Tischkowitz, Marc, Thomas, Kay, Tse, Yincent, Turnbull, Alison, Turner, A. Neil, Tyerman, Kay, Usher, Miranda, Venkat-Raman, Gopalakrishnan, Walker, Alycon, Walsh, Stephen B., Waters, Aoife, Watt, Angela, Webster, Phil, Wechalekar, Ashutosh, Welsh, Gavin Iain, West, Nicol, Wheeler, David, Wiles, Kate, Willcocks, Lisa, Williams, Angharad, Williams, Emma, Williams, Karen, Wilson, Deborah H., Wilson, Patricia D., Winyard, Paul, Wong, Edwin, Wong, Katie, Wood, Grahame, Woodward, Emma, Woodward, Len, Woolf, Adrian, Wright, David, Downward, Lewis, Griffin, Sian, Hall, Matt, Karet Frankl, Fiona, Maher, Eamonn R., Pinney, Jenny, Tam, Frederick W.K., Wilson, Patricia, Sy, Karla Therese L., Huang, Kui, Ye, Jamie, Nitsch, Dorothea, and Bockenhauer, Detlef
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- 2024
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9. Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
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Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Schönauer, Ria, Sierks, Dana, Boerrigter, Melissa, Jawaid, Tabinda, Caroff, Lea, Audrezet, Marie-Pierre, Friedrich, Anja, Shaw, Melissa, Degenhardt, Jan, Forberger, Mirjam, de Fallois, Jonathan, Bläker, Hendrik, Bergmann, Carsten, Gödiker, Juliana, Schindler, Philipp, Schlevogt, Bernhard, Müller, Roman-U., Berg, Thomas, Patterson, Ilse, Griffiths, William J., Sayer, John A., Popp, Bernt, Torres, Vicente E., Hogan, Marie C., Somlo, Stefan, Watnick, Terry J., Nevens, Frederik, Besse, Whitney, Cornec-Le Gall, Emilie, Harris, Peter C., Drenth, Joost P.H., and Halbritter, Jan
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- 2024
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10. Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition
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Kaufeld, Jessica K., Kühne, Lucas, Schönermarck, Ulf, Bräsen, Jan Hinrich, von Kaisenberg, Constantin, Beck, Bodo B., Erger, Florian, Bergmann, Carsten, von Bergwelt-Baildon, A.N.K.E., Brinkkötter, Paul T., Völker, Linus A., and Menne, Jan
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- 2024
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11. Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
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Riedhammer, Korbinian M., Nguyen, Thanh-Minh T., Koşukcu, Can, Calzada-Wack, Julia, Li, Yong, Assia Batzir, Nurit, Saygılı, Seha, Wimmers, Vera, Kim, Gwang-Jin, Chrysanthou, Marialena, Bakey, Zeineb, Sofrin-Drucker, Efrat, Kraiger, Markus, Sanz-Moreno, Adrián, Amarie, Oana V., Rathkolb, Birgit, Klein-Rodewald, Tanja, Garrett, Lillian, Hölter, Sabine M., Seisenberger, Claudia, Haug, Stefan, Schlosser, Pascal, Marschall, Susan, Wurst, Wolfgang, Fuchs, Helmut, Gailus-Durner, Valerie, Wuttke, Matthias, Hrabe de Angelis, Martin, Ćomić, Jasmina, Akgün Doğan, Özlem, Özlük, Yasemin, Taşdemir, Mehmet, Ağbaş, Ayşe, Canpolat, Nur, Orenstein, Naama, Çalışkan, Salim, Weber, Ruthild G., Bergmann, Carsten, Jeanpierre, Cecile, Saunier, Sophie, Lim, Tze Y., Hildebrandt, Friedhelm, Alhaddad, Bader, Basel-Salmon, Lina, Borovitz, Yael, Wu, Kaman, Antony, Dinu, Matschkal, Julia, Schaaf, Christian W., Renders, Lutz, Schmaderer, Christoph, Rogg, Manuel, Schell, Christoph, Meitinger, Thomas, Heemann, Uwe, Köttgen, Anna, Arnold, Sebastian J., Ozaltin, Fatih, Schmidts, Miriam, and Hoefele, Julia
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- 2024
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12. Polycystic Kidney Disease: ADPKD and ARPKD
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Liebau, Max Christoph, Mekahli, Djalila, Bergmann, Carsten, Schaefer, Franz, editor, and Greenbaum, Larry A., editor
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- 2023
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13. Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort
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Abat, Sharirose, Adalat, Shazia, Agbonmwandolor, Joy, Ahmad, Zubaidah, Alejmi, Abdulfattah, Almasarwah, Rashid, Annear, Nicholas, Asgari, Ellie, Ayers, Amanda, Baharani, Jyoti, Balasubramaniam, Gowrie, Kpodo, Felix, Bansal, Tarun, Barratt, Alison, Barratt, Jonathan, Bates, Megan, Bayne, Natalie, Bendle, Janet, Benyon, Sarah, Bergmann, Carsten, Bhandari, Sunil, Bingham, Coralie, Boddana, Preetham, Bond, Sally, Braddon, Fiona, Bramham, Kate, Branson, Angela, Brearey, Stephen, Brocklebank, Vicky, Budwal, Sharanjit, Byrne, Conor, Cairns, Hugh, Camilleri, Brian, Campbell, Gary, Capell, Alys, Carmody, Margaret, Carson, Marion, Cathcart, Tracy, Catley, Christine, Cesar, Karine, Chan, Melanie, Chea, Houda, Chess, James, Cheung, Chee Kay, Chick, Katy-Jane, Chitalia, Nihil, Christian, Martin, Chrysochou, Tina, Clark, Katherine, Clayton, Christopher, Clissold, Rhian, Cockerill, Helen, Coelho, Joshua, Colby, Elizabeth, Colclough, Viv, Conway, Eileen, Cook, H Terence, Cook, Wendy, Cooper, Theresa, Coward, Richard J, Crosbie, Sarah, Cserep, Gabor, Date, Anjali, Davidson, Katherine, Davies, Amanda, Dhaun, Neeraj, Dhaygude, Ajay, Diskin, Lynn, Dixit, Abhijit, Doctolero, Eunice, Dorey, Suzannah, Downard, Lewis, Drayson, Mark, Dreyer, Gavin, Dutt, Tina, Etuk, Kufreabasi, Evans, Dawn, Finch, Jenny, Flinter, Frances, Fotheringham, James, Francis, Lucy, Gale, Daniel P, Gallagher, Hugh, Game, David, Garcia, Eva, Gavrila, Madita, Gear, Susie, Geddes, Colin, Gilchrist, Mark, Gittus, Matt, Goggolidou, Paraskevi, Goldsmith, Christopher, Gooden, Patricia, Goodlife, Andrea, Goodwin, Priyanka, Grammatikopoulos, Tassos, Gray, Barry, Griffith, Megan, Gumus, Steph, Gupta, Sanjana, Hamilton, Patrick, Harper, Lorraine, Harris, Tess, Haskell, Louise, Hayward, Samantha, Hegde, Shivaram, Hendry, Bruce, Hewins, Sue, Hewitson, Nicola, Hillman, Kate, Hiremath, Mrityunjay, Howson, Alexandra, Htet, Zay, Huish, Sharon, Hull, Richard, Humphries, Alister, Hunt, David P J, Hunter, Karl, Hunter, Samantha, Ijeomah-Orji, Marilyn, Inston, Nick, Jayne, David, Jenfa, Gbemisola, Jenkins, Alison, Johnson, Sally, Jones, Caroline A, Jones, Colin, Jones, Amanda, Jones, Rachel, Kamesh, Lavanya, Kanigicherla, Durga, Karet Frankl, Fiona, Karim, Mahzuz, Kaur, Amrit, Kavanagh, David, Kearley, Kelly, Kerecuk, Larissa, Khwaja, Arif, King, Garry, King, Grant, Kislowska, Ewa, Klata, Edyta, Kokocinska, Maria, Lambie, Mark, Lawless, Laura, Ledson, Thomas, Lennon, Rachel, Levine, Adam P, Lai, Ling Wai Maggie, Lipkin, Graham, Lovitt, Graham, Lyons, Paul, Mabillard, Holly, Mackintosh, Katherine, Mahdi, Khalid, Maher, Eamonn, Marchbank, Kevin J, Mark, Patrick B, Masoud, Sherry, Masunda, Bridgett, Mavani, Zainab, Mayfair, Jake, McAdoo, Stephen, Mckinnell, Joanna, Melhem, Nabil, Meyrick, Simon, Moochhala, Shabbir, Morgan, Putnam, Morgan, Ann, Muhammad, Fawad, Murray, Shona, Novobritskaya, Kristina, Ong, Albert CM, Oni, Louise, Osmaston, Kate, Padmanabhan, Neal, Parkes, Sharon, Patrick, Jean, Pattison, James, Paul, Riny, Percival, Rachel, Perkins, Stephen J, Persu, Alexandre, Petchey, William G, Pickering, Matthew C, Pinney, Jennifer, Pitcher, David, Plumb, Lucy, Plummer, Zoe, Popoola, Joyce, Post, Frank, Power, Albert, Pratt, Guy, Pusey, Charles, Rabara, Ria, Rabuya, May, Raju, Tina, Javier, Chadd, Roberts, Ian S D, Roufosse, Candice, Rumjon, Adam, Salama, Alan, Saleem, Moin, Sandford, Richard, Sandu, Kanwaljit S, Sarween, Nadia, Sayer, John A, Sebire, Neil, Selvaskandan, Haresh, Sharma, Asheesh, Sharples, Edward J, Sheerin, Neil, Shetty, Harish, Shroff, Rukshana, Simms, Roslyn, Sinha, Manish, Sinha, Smeeta, Smith, Kerry, Smith, Lara, Srivastava, Shalabh, Steenkamp, Retha, Stott, Ian, Stroud, Katerina, Swift, Pauline, Szklarzewicz, Justyna, Tam, Fred, Tan, Kay, Taylor, Robert, Tischkowitz, Marc, Thomas, Kay, Tse, Yincent, Turnbull, Alison, Turner, A Neil, Tyerman, Kay, Usher, Miranda, Venkat-Raman, Gopalakrishnan, Walker, Alycon, Walsh, Stephen B, Waters, Aoife, Watt, Angela, Webster, Phil, Wechalekar, Ashutosh, Welsh, Gavin I, West, Nicol, Wheeler, David, Wiles, Kate, Willcocks, Lisa, Williams, Angharad, Williams, Emma, Williams, Karen, Wilson, Deborah H, Wilson, Patricia D, Winyard, Paul, Wong, Edwin, Wong, Katie, Wood, Grahame, Woodward, Emma, Woodward, Len, Woolf, Adrian, Wright, David, Downward, Lewis, Chrysochou, Constantina, Griffin, Sian, Hall, Matt, Maher, Eamonn R, Pinney, Jenny, Tam, Frederick W K, Turner, Andrew Neil, Wilson, Patricia, Taylor, Christopher Mark, Nitsch, Dorothea, and Bockenhauer, Detlef
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- 2024
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14. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
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Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary JH, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, and Horvath, Rita
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Neurosciences ,Neurodegenerative ,Genetics ,Clinical Research ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,Animals ,Female ,Humans ,Male ,Mice ,Mutation ,Oxygenases ,Pedigree ,Rats ,Spastic Paraplegia ,Hereditary ,Zebrafish ,hereditary spastic paraplegia ,HSP ,autosomal recessive ,mitochondrial disorder ,HPDL ,Genomics England Research Consortium ,PREPARE network ,Medical and Health Sciences ,Psychology and Cognitive Sciences ,Neurology & Neurosurgery - Abstract
Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity and global developmental delays, sometimes complicated by episodes of neurological and respiratory decompensation. Variants included bona fide pathogenic truncating changes, although most were missense substitutions. Functionality of variants could not be determined directly as the enzymatic specificity of HPDL is unknown; however, when HPDL missense substitutions were introduced into 4-hydroxyphenylpyruvate dioxygenase (HPPD, an HPDL orthologue), they impaired the ability of HPPD to convert 4-hydroxyphenylpyruvate into homogentisate. Moreover, three additional sets of experiments provided evidence for a role of HPDL in the nervous system and further supported its link to neurological disease: (i) HPDL was expressed in the nervous system and expression increased during neural differentiation; (ii) knockdown of zebrafish hpdl led to abnormal motor behaviour, replicating aspects of the human disease; and (iii) HPDL localized to mitochondria, consistent with mitochondrial disease that is often associated with neurological manifestations. Our findings suggest that biallelic HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with global developmental delays.
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- 2021
15. An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia
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Welters, Alena, Leiter, Sarah M, Bachmann, Nadine, Bergmann, Carsten, Hoermann, Henrike, Korsch, Eckhard, Meissner, Thomas, Payne, Felicity, Williams, Rachel, Hussain, Khalid, Semple, Robert K., and Kummer, Sebastian
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- 2023
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16. Kif21a deficiency leads to impaired glomerular filtration barrier function
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Riedmann, Hanna, Kayser, Séverine, Helmstädter, Martin, Epting, Daniel, and Bergmann, Carsten
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- 2023
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17. A novel role for the chloride intracellular channel protein Clic5 in ciliary function
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Ott, Elisabeth, Hoff, Sylvia, Indorf, Lara, Ditengou, Franck Anicet, Müller, Julius, Renschler, Gina, Lienkamp, Soeren S., Kramer-Zucker, Albrecht, Bergmann, Carsten, and Epting, Daniel
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- 2023
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18. PATJ inhibits histone deacetylase 7 to control tight junction formation and cell polarity
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Fiedler, Julia, Moennig, Thomas, Hinrichs, Johanna H., Weber, Annika, Wagner, Thomas, Hemmer, Tim, Schröter, Rita, Weide, Thomas, Epting, Daniel, Bergmann, Carsten, Nedvetsky, Pavel, and Krahn, Michael P.
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- 2023
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19. Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease
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Hertz, Jens Michael, Svenningsen, Per, Dimke, Henrik, Engelund, Morten Buch, Nørgaard, Hanne, Hansen, Anita, Marcussen, Niels, Thiesson, Helle Charlotte, Bergmann, Carsten, and Larsen, Martin J.
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- 2022
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20. Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis
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Antczak, P., Birtel, J., Bergmann, C., Cetiner, M., Dahmer-Heath, M., Drube, J., Gerß, J., Haffner, D., Illig, T., Kamp-Becker, I., Klopp, N., Kollmann, S., König, J., Konrad, M., Liebau, M.C., Nittel, C., Okorn, C., Omran, H., Pape, L., Pennekamp, P., Schäfer, F., Schermer, B., Storf, H., Vasseur, J., Weber, S., Wohlgemuth, K., Ziegler, W., Gimpel, C., Göbel, J., Schlevogt, B., König, Jens Christian, Karsay, Rebeka, Gerß, Joachim, Schlingmann, Karl-Peter, Dahmer-Heath, Mareike, Telgmann, Anna-Katharina, Kollmann, Sabine, Ariceta, Gema, Gillion, Valentine, Bockenhauer, Detlef, Bertholet-Thomas, Aurélia, Mastrangelo, Antonio, Boyer, Olivia, Lilien, Marc, Decramer, Stéphane, Schanstra, Joost. P., Pohl, Martin, Schild, Raphael, Weber, Stefanie, Hoefele, Julia, Drube, Jens, Cetiner, Metin, Hansen, Matthias, Thumfart, Julia, Tönshoff, Burkhard, Habbig, Sandra, Liebau, Max Christoph, Bald, Martin, Bergmann, Carsten, Pennekamp, Petra, and Konrad, Martin
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- 2022
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21. Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly
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Sewerin, Sebastian, Piontek, Jörg, Schönauer, Ria, Grunewald, Sonja, Rauch, Angelika, Neuber, Steffen, Bergmann, Carsten, Günzel, Dorothee, and Halbritter, Jan
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- 2022
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22. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
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Köttgen, Anna, Cornec-Le Gall, Emilie, Halbritter, Jan, Kiryluk, Krzysztof, Mallett, Andrew J., Parekh, Rulan S., Rasouly, Hila Milo, Sampson, Matthew G., Tin, Adrienne, Antignac, Corinne, Ars, Elisabet, Bergmann, Carsten, Bleyer, Anthony J., Bockenhauer, Detlef, Devuyst, Olivier, Florez, Jose C., Fowler, Kevin J., Franceschini, Nora, Fukagawa, Masafumi, Gale, Daniel P., Gbadegesin, Rasheed A., Goldstein, David B., Grams, Morgan E., Greka, Anna, Gross, Oliver, Guay-Woodford, Lisa M., Harris, Peter C., Hoefele, Julia, Hung, Adriana M., Knoers, Nine V.A.M., Kopp, Jeffrey B., Kretzler, Matthias, Lanktree, Matthew B., Lipska-Ziętkiewicz, Beata S., Nicholls, Kathleen, Nozu, Kandai, Ojo, Akinlolu, Parsa, Afshin, Pattaro, Cristian, Pei, York, Pollak, Martin R., Rhee, Eugene P., Sanna-Cherchi, Simone, Savige, Judy, Sayer, John A., Scolari, Francesco, Sedor, John R., Sim, Xueling, Somlo, Stefan, Susztak, Katalin, Tayo, Bamidele O., Torra, Roser, van Eerde, Albertien M., Weinstock, André, Winkler, Cheryl A., Wuttke, Matthias, Zhang, Hong, King, Jennifer M., Cheung, Michael, Jadoul, Michel, Winkelmayer, Wolfgang C., and Gharavi, Ali G.
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- 2022
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23. Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations
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Devane, John, Ott, Elisabeth, Olinger, Eric G., Epting, Daniel, Decker, Eva, Friedrich, Anja, Bachmann, Nadine, Renschler, Gina, Eisenberger, Tobias, Briem-Richter, Andrea, Grabhorn, Enke Freya, Powell, Laura, Wilson, Ian J., Rice, Sarah J., Miles, Colin G., Wood, Katrina, Trivedi, Palak, Hirschfield, Gideon, Pietrobattista, Andrea, Wohler, Elizabeth, Mezina, Anya, Sobreira, Nara, Agolini, Emanuele, Maggiore, Giuseppe, Dahmer-Heath, Mareike, Yilmaz, Ali, Boerries, Melanie, Metzger, Patrick, Schell, Christoph, Grünewald, Inga, Konrad, Martin, König, Jens, Schlevogt, Bernhard, Sayer, John A., and Bergmann, Carsten
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- 2022
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24. Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract
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Münch, Johannes, Engesser, Marie, Schönauer, Ria, Hamm, J. Austin, Hartig, Christin, Hantmann, Elena, Akay, Gulsen, Pehlivan, Davut, Mitani, Tadahiro, Coban Akdemir, Zeynep, Tüysüz, Beyhan, Shirakawa, Toshihiko, Dateki, Sumito, Claus, Laura R., van Eerde, Albertien M., Smol, Thomas, Devisme, Louise, Franquet, Hélène, Attié-Bitach, Tania, Wagner, Timo, Bergmann, Carsten, Höhn, Anne Kathrin, Shril, Shirlee, Pollack, Ari, Wenger, Tara, Scott, Abbey A., Paolucci, Sarah, Buchan, Jillian, Gabriel, George C., Posey, Jennifer E., Lupski, James R., Petit, Florence, McCarthy, Andrew A., Pazour, Gregory J., Lo, Cecilia W., Popp, Bernt, and Halbritter, Jan
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- 2022
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25. Scaffold polarity proteins Par3A and Par3B share redundant functions while Par3B acts independent of atypical protein kinase C/Par6 in podocytes to maintain the kidney filtration barrier
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Koehler, Sybille, Odenthal, Johanna, Ludwig, Vivian, Unnersjö Jess, David, Höhne, Martin, Jüngst, Christian, Grawe, Ferdi, Helmstädter, Martin, Janku, Johanna L., Bergmann, Carsten, Hoyer, Peter F., Hagmann, H. Henning, Walz, Gerd, Bloch, Wilhelm, Niessen, Carien, Schermer, Bernhard, Wodarz, Andreas, Denholm, Barry, Benzing, Thomas, Iden, Sandra, and Brinkkoetter, Paul T.
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- 2022
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26. The wind of change in the management of autosomal dominant polycystic kidney disease in childhood
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Gimpel, Charlotte, Bergmann, Carsten, and Mekahli, Djalila
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Diagnosis ,Care and treatment ,Development and progression ,Pediatric diseases -- Diagnosis -- Development and progression -- Care and treatment ,Polycystic kidney disease -- Diagnosis -- Development and progression -- Care and treatment ,Children -- Diseases - Abstract
Author(s): Charlotte Gimpel [sup.1] [sup.2] , Carsten Bergmann [sup.1] [sup.3] , Djalila Mekahli [sup.4] [sup.5] Author Affiliations: (1) grid.5963.9, Department of Internal Medicine IV (Nephrology), Medical Center-University of Freiburg, Faculty [...], Significant progress has been made in understanding the genetic basis of autosomal dominant polycystic kidney disease (ADPKD), quantifying disease manifestations in children, exploring very-early onset ADPKD as well as pharmacological delay of disease progression in adults. At least 20% of children with ADPKD have relevant, yet mainly asymptomatic disease manifestations such as hypertension or proteinuria (in line with findings in adults with ADPKD, where hypertension and cardiovascular damage precede decline in kidney function). We propose an algorithm for work-up and management based on current recommendations that integrates the need to screen regularly for hypertension and proteinuria in offspring of affected parents with different options regarding diagnostic testing, which need to be discussed with the family with regard to ethical and practical aspects. Indications and scope of genetic testing are discussed. Pharmacological management includes renin-angiotensin system blockade as first-line therapy for hypertension and proteinuria. The vasopressin receptor antagonist tolvaptan is licensed for delaying disease progression in adults with ADPKD who are likely to experience kidney failure. A clinical trial in children is currently ongoing; however, valid prediction models to identify children likely to suffer kidney failure are lacking. Non-pharmacological interventions in this population also deserve further study.
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- 2022
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27. Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases
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Ziegler, Wolfgang H., Lüdiger, Sarah, Hassan, Fatima, Georgiadis, Margarita E., Swolana, Kathrin, Khera, Amrit, Mertens, Arne, Franke, Doris, Wohlgemuth, Kai, Dahmer-Heath, Mareike, König, Jens, Dafinger, Claudia, Liebau, Max C., Cetiner, Metin, Bergmann, Carsten, Soetje, Birga, and Haffner, Dieter
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- 2022
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28. Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
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Eid, Loai Akram, Arbeiter, Klaus, Godefroid, Nathalie, Lombet, Jacques, De Mul, Aurélie, Feldkoetter, Markus, Zieg, Jakub, Grundmann, Franziska, Galiano, Matthias, Buchholz, Björn, Buescher, Anja, Häffner, Karsten, Gross, Oliver, Patzer, Ludwig, Oh, Jun, Haffner, Dieter, Bernhardt, Wanja, Schaefer, Susanne, Wygoda, Simone, Halbritter, Jan, Derichs, Ute, Klaus, Günter, Lechner, Felix, Ponsel, Sabine, König, Jens, Staude, Hagen, Wurm, Donald, Bald, Martin, Gessner, Michaela, Soliman, Neveen A., Ariceta, Gema, Gonzalez Rodriguez, Juan David, Ojeda, Francisco de la Cerda, Harambat, Jerome, Morin, Denis, Dossier, Claire, Dorval, Guillaume, Shroff, Rukshana, Stabouli, Stella, Hooman, Nakysa, Mencarelli, Francesca, Morello, William, Longo, Germana, Emma, Francesco, Jankauskiene, Augustina, Taranta-Janusz, Katarzyna, Zagozdzon, Ilona, Zachwieja, Katarzyna, Stanczyk, Malgorzata, Bienias, Beata, Litwin, Mieczyslaw, Morawiec-Knysak, Aurelia, Afonso, Alberto Caldas, Dunand, Oliver, Rachisan, Andreea, Miloševski-Lomić, Gordana, Papizh, Svetlana, Rus, Rina, Jilani, Houweyda, Atmis, Bahriye, Duzova, Ali, Soylu, Alper, Candan, Cengiz, Caliskan, Salim, Yilmaz, Alev, Gökce, İbrahim, Akinci, Nurver, Mir, Sevgi, Dursun, Ismail, Tabel, Yilmaz, Nalcacioglu, Hulya, Burgmaier, Kathrin, Brinker, Leonie, Erger, Florian, Beck, Bodo B., Benz, Marcus R., Bergmann, Carsten, Boyer, Olivia, Collard, Laure, Dafinger, Claudia, Fila, Marc, Kowalewska, Claudia, Lange-Sperandio, Bärbel, Massella, Laura, Mastrangelo, Antonio, Mekahli, Djalila, Miklaszewska, Monika, Ortiz-Bruechle, Nadina, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Schild, Raphael, Seeman, Tomas, Sever, Lale, Sikora, Przemyslaw, Szczepanska, Maria, Teixeira, Ana, Thumfart, Julia, Uetz, Barbara, Weber, Lutz Thorsten, Wühl, Elke, Zerres, Klaus, Dötsch, Jörg, Schaefer, Franz, and Liebau, Max Christoph
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- 2021
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29. The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation
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Schrezenmeier, Eva, Kremerskothen, Elisa, Halleck, Fabian, Staeck, Oliver, Liefeldt, Lutz, Choi, Mira, Schüler, Markus, Weber, Ulrike, Bachmann, Nadine, Grohmann, Maik, Wagner, Timo, Budde, Klemens, and Bergmann, Carsten
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- 2021
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30. Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021
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Raina, Rupesh, Chakraborty, Ronith, Sethi, Sidharth K., Kumar, Deepak, Gibson, Kelly, and Bergmann, Carsten
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- 2021
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31. Collagen IVα345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture’s and Alport diseases
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Pokidysheva, Elena N., Seeger, Harald, Pedchenko, Vadim, Chetyrkin, Sergei, Bergmann, Carsten, Abrahamson, Dale, Cui, Zhao Wei, Delpire, Eric, Fervenza, Fernando C., Fidler, Aaron L., Fogo, Agnes B., Gaspert, Ariana, Grohmann, Maik, Gross, Oliver, Haddad, George, Harris, Raymond C., Kashtan, Clifford, Kitching, A. Richard, Lorenzen, Johan M., McAdoo, Stephen, Pusey, Charles D., Segelmark, Marten, Simmons, Alicia, Voziyan, Paul A., Wagner, Timo, Wüthrich, Rudolf P., Zhao, Ming-Hui, Boudko, Sergei P., Kistler, Andreas D., and Hudson, Billy G.
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- 2021
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32. Vorgeburtliche genetische Diagnostik: maßgeschneidert und mit Augenmaß
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Bergmann, Carsten
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- 2021
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33. Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes
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Schönauer, Ria, Baatz, Sebastian, Nemitz-Kliemchen, Melanie, Frank, Valeska, Petzold, Friederike, Sewerin, Sebastian, Popp, Bernt, Münch, Johannes, Neuber, Steffen, Bergmann, Carsten, and Halbritter, Jan
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- 2020
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34. #276 ADTKD genetic diagnostics in Europe: where do we stand and what is needed?
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Scheidler, Christian, primary, Wiesener, Michael, additional, Bergmann, Carsten, additional, Devuyst, Olivier, additional, Rosenberger, Christian, additional, and Halbritter, Jan, additional
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- 2024
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35. Description and cross-sectional analyses of 25,880 adults and children in the UK National Registry of Rare Kidney Diseases cohort
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Wong, Katie, primary, Pitcher, David, additional, Braddon, Fiona, additional, Downward, Lewis, additional, Steenkamp, Retha, additional, Masoud, Sherry, additional, Annear, Nicholas, additional, Barratt, Jonathan, additional, Bingham, Coralie, additional, Coward, Richard J., additional, Chrysochou, Tina, additional, Game, David, additional, Griffin, Sian, additional, Hall, Matt, additional, Johnson, Sally, additional, Kanigicherla, Durga, additional, Karet Frankl, Fiona, additional, Kavanagh, David, additional, Kerecuk, Larissa, additional, Maher, Eamonn R., additional, Moochhala, Shabbir, additional, Pinney, Jenny, additional, Sayer, John A., additional, Simms, Roslyn, additional, Sinha, Smeeta, additional, Srivastava, Shalabh, additional, Tam, Frederick W.K., additional, Thomas, Kay, additional, Turner, A. Neil, additional, Walsh, Stephen B., additional, Waters, Aoife, additional, Wilson, Patricia, additional, Wong, Edwin, additional, Abat, Sharirose, additional, Adalat, Shazia, additional, Agbonmwandolor, Joy, additional, Ahmad, Zubaidah, additional, Alejmi, Abdulfattah, additional, Almasarwah, Rashid, additional, Asgari, Ellie, additional, Ayers, Amanda, additional, Baharani, Jyoti, additional, Balasubramaniam, Gowrie, additional, Jo-Bamba Kpodo, Felix, additional, Bansal, Tarun, additional, Barratt, Alison, additional, Bates, Megan, additional, Bayne, Natalie, additional, Bendle, Janet, additional, Benyon, Sarah, additional, Bergmann, Carsten, additional, Bhandari, Sunil, additional, Boddana, Preetham, additional, Bond, Sally, additional, Bramham, Kate, additional, Branson, Angela, additional, Brearey, Stephen, additional, Brocklebank, Vicky, additional, Budwal, Sharanjit, additional, Byrne, Conor, additional, Cairns, Hugh, additional, Camilleri, Brian, additional, Campbell, Gary, additional, Capell, Alys, additional, Carmody, Margaret, additional, Carson, Marion, additional, Cathcart, Tracy, additional, Catley, Christine, additional, Cesar, Karine, additional, Chan, Melanie, additional, Chea, Houda, additional, Chess, James, additional, Cheung, Chee Kay, additional, Chick, Katy-Jane, additional, Chitalia, Nihil, additional, Christian, Martin, additional, Clark, Katherine, additional, Clayton, Christopher, additional, Clissold, Rhian, additional, Cockerill, Helen, additional, Coelho, Joshua, additional, Colby, Elizabeth, additional, Colclough, Viv, additional, Conway, Eileen, additional, Cook, H. Terence, additional, Cook, Wendy, additional, Cooper, Theresa, additional, Crosbie, Sarah, additional, Cserep, Gabor, additional, Date, Anjali, additional, Davidson, Katherine, additional, Davies, Amanda, additional, Dhaun, Neeraj, additional, Dhaygude, Ajay, additional, Diskin, Lynn, additional, Dixit, Abhijit, additional, Doctolero, Eunice Ann, additional, Dorey, Suzannah, additional, Downard, Lewis, additional, Drayson, Mark, additional, Dreyer, Gavin, additional, Dutt, Tina, additional, Etuk, Kufreabasi, additional, Evans, Dawn, additional, Finch, Jenny, additional, Flinter, Frances, additional, Fotheringham, James, additional, Francis, Lucy, additional, Gale, Daniel P., additional, Gallagher, Hugh, additional, Garcia, Eva Lozano, additional, Gavrila, Madita, additional, Gear, Susie, additional, Geddes, Colin, additional, Gilchrist, Mark, additional, Gittus, Matt, additional, Goggolidou, Paraskevi, additional, Goldsmith, Christopher, additional, Gooden, Patricia, additional, Goodlife, Andrea, additional, Goodwin, Priyanka, additional, Grammatikopoulos, Tassos, additional, Gray, Barry, additional, Griffith, Megan, additional, Gumus, Steph, additional, Gupta, Sanjana, additional, Hamilton, Patrick, additional, Harper, Lorraine, additional, Harris, Tess, additional, Haskell, Louise, additional, Hayward, Samantha, additional, Hegde, Shivaram, additional, Hendry, Bruce, additional, Hewins, Sue, additional, Hewitson, Nicola, additional, Hillman, Kate, additional, Hiremath, Mrityunjay, additional, Howson, Alexandra, additional, Htet, Zay, additional, Huish, Sharon, additional, Hull, Richard, additional, Humphries, Alister, additional, Hunt, David P.J., additional, Hunter, Karl, additional, Hunter, Samantha, additional, Ijeomah-Orji, Marilyn, additional, Inston, Nick, additional, Jayne, David, additional, Jenfa, Gbemisola, additional, Jenkins, Alison, additional, Jones, Caroline A., additional, Jones, Colin, additional, Jones, Amanda, additional, Jones, Rachel, additional, Kamesh, Lavanya, additional, Frankl, Fiona Karet, additional, Karim, Mahzuz, additional, Kaur, Amrit, additional, Kearley, Kelly, additional, Khwaja, Arif, additional, King, Garry, additional, King, Grant, additional, Kislowska, Ewa, additional, Klata, Edyta, additional, Kokocinska, Maria, additional, Lambie, Mark, additional, Lawless, Laura, additional, Ledson, Thomas, additional, Lennon, Rachel, additional, Levine, Adam P., additional, Maggie Lai, Ling Wai, additional, Lipkin, Graham, additional, Lovitt, Graham, additional, Lyons, Paul, additional, Mabillard, Holly, additional, Mackintosh, Katherine, additional, Mahdi, Khalid, additional, Maher, Eamonn, additional, Marchbank, Kevin J., additional, Mark, Patrick B., additional, Masunda, Bridgett, additional, Mavani, Zainab, additional, Mayfair, Jake, additional, McAdoo, Stephen, additional, Mckinnell, Joanna, additional, Melhem, Nabil, additional, Meyrick, Simon, additional, Morgan, Putnam, additional, Morgan, Ann, additional, Muhammad, Fawad, additional, Murray, Shona, additional, Novobritskaya, Kristina, additional, Ong, Albert CM., additional, Oni, Louise, additional, Osmaston, Kate, additional, Padmanabhan, Neal, additional, Parkes, Sharon, additional, Patrick, Jean, additional, Pattison, James, additional, Paul, Riny, additional, Percival, Rachel, additional, Perkins, Stephen J., additional, Persu, Alexandre, additional, Petchey, William G., additional, Pickering, Matthew C., additional, Pinney, Jennifer, additional, Plumb, Lucy, additional, Plummer, Zoe, additional, Popoola, Joyce, additional, Post, Frank, additional, Power, Albert, additional, Pratt, Guy, additional, Pusey, Charles, additional, Rabara, Ria, additional, Rabuya, May, additional, Raju, Tina, additional, Javier, Chadd, additional, Roberts, Ian SD., additional, Roufosse, Candice, additional, Rumjon, Adam, additional, Salama, Alan, additional, Saleem, Moin, additional, Sandford, R.N., additional, Sandu, Kanwaljit S., additional, Sarween, Nadia, additional, Sebire, Neil, additional, Selvaskandan, Haresh, additional, Shah, Sapna, additional, Sharma, Asheesh, additional, Sharples, Edward J., additional, Sheerin, Neil, additional, Shetty, Harish, additional, Shroff, Rukshana, additional, Sinha, Manish, additional, Smith, Kerry, additional, Smith, Lara, additional, Stott, Ian, additional, Stroud, Katerina, additional, Swift, Pauline, additional, Szklarzewicz, Justyna, additional, Tam, Fred, additional, Tan, Kay, additional, Taylor, Robert, additional, Tischkowitz, Marc, additional, Tse, Yincent, additional, Turnbull, Alison, additional, Turner, A Neil, additional, Tyerman, Kay, additional, Usher, Miranda, additional, Venkat-Raman, Gopalakrishnan, additional, Walker, Alycon, additional, Watt, Angela, additional, Webster, Phil, additional, Wechalekar, Ashutosh, additional, Welsh, Gavin Iain, additional, West, Nicol, additional, Wheeler, David, additional, Wiles, Kate, additional, Willcocks, Lisa, additional, Williams, Angharad, additional, Williams, Emma, additional, Williams, Karen, additional, Wilson, Deborah H., additional, Wilson, Patricia D., additional, Winyard, Paul, additional, Wong, Katie, additional, Wood, Grahame, additional, Woodward, Emma, additional, Woodward, Len, additional, Woolf, Adrian, additional, Wright, David, additional, Sy, Karla Therese L., additional, Huang, Kui, additional, Ye, Jamie, additional, Nitsch, Dorothea, additional, and Bockenhauer, Detlef, additional
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- 2024
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36. Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
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Schönauer, Ria, primary, Sierks, Dana, additional, Boerrigter, Melissa, additional, Jawaid, Tabinda, additional, Caroff, Lea, additional, Audrezet, Marie-Pierre, additional, Friedrich, Anja, additional, Shaw, Melissa, additional, Degenhardt, Jan, additional, Forberger, Mirjam, additional, de Fallois, Jonathan, additional, Bläker, Hendrik, additional, Bergmann, Carsten, additional, Gödiker, Juliana, additional, Schindler, Philipp, additional, Schlevogt, Bernhard, additional, Müller, Roman-U., additional, Berg, Thomas, additional, Patterson, Ilse, additional, Griffiths, William J., additional, Sayer, John A., additional, Ambrose, John C., additional, Arumugam, Prabhu, additional, Bevers, Roel, additional, Bleda, Marta, additional, Boardman-Pretty, Freya, additional, Boustred, Christopher R., additional, Brittain, Helen, additional, Caulfield, Mark J., additional, Chan, Georgia C., additional, Elgar, Greg, additional, Fowler, Tom, additional, Giess, Adam, additional, Hamblin, Angela, additional, Henderson, Shirley, additional, Hubbard, Tim J.P., additional, Jackson, Rob, additional, Jones, Louise J., additional, Kasperaviciute, Dalia, additional, Kayikci, Melis, additional, Kousathanas, Athanasios, additional, Lahnstein, Lea, additional, Leigh, Sarah E.A., additional, Leong, Ivonne U.S., additional, Lopez, Javier F., additional, Maleady-Crowe, Fiona, additional, McEntagart, Meriel, additional, Minneci, Federico, additional, Moutsianas, Loukas, additional, Mueller, Michael, additional, Murugaesu, Nirupa, additional, Need, Anna C., additional, O’Donovan, Peter, additional, Odhams, Chris A., additional, Patch, Christine, additional, Pereira, Mariana Buongermino, additional, Perez-Gil, Daniel, additional, Pullinger, John, additional, Rahim, Tahrima, additional, Rendon, Augusto, additional, Rogers, Tim, additional, Savage, Kevin, additional, Sawant, Kushmita, additional, Scott, Richard H., additional, Siddiq, Afshan, additional, Sieghart, Alexander, additional, Smith, Samuel C., additional, Sosinsky, Alona, additional, Stuckey, Alexander, additional, Tanguy, Mélanie, additional, Taylor Tavares, Ana Lisa, additional, Thomas, Ellen R.A., additional, Thompson, Simon R., additional, Tucci, Arianna, additional, Welland, Matthew J., additional, Williams, Eleanor, additional, Witkowska, Katarzyna, additional, Wood, Suzanne M., additional, Popp, Bernt, additional, Torres, Vicente E., additional, Hogan, Marie C., additional, Somlo, Stefan, additional, Watnick, Terry J., additional, Nevens, Frederik, additional, Besse, Whitney, additional, Cornec-Le Gall, Emilie, additional, Harris, Peter C., additional, Drenth, Joost P.H., additional, and Halbritter, Jan, additional
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- 2024
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37. Ibrutinib-associated focal segmental glomerulosclerosis and the impact of podocin mutations in chronic lymphocytic leukemia
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Czogalla, Jan, primary, Schliffke, Simon, additional, Lu, Shun, additional, Schwerk, Maria, additional, Petereit, Helena, additional, Zhang, Tianran, additional, Liu, Shuya, additional, Dumoulin, Bernhard, additional, Gies, Sydney, additional, Wu, Guochao, additional, Hänzelmann, Sonja, additional, Bode, Marlies, additional, Grahammer, Florian, additional, Gödel, Markus, additional, Voigtländer, Minna, additional, Butt, Linus, additional, Bokemeyer, Carsten, additional, Bergmann, Carsten, additional, Benzing, Thomas, additional, Wiech, Thorsten, additional, Puelles, Victor G., additional, and Huber, Tobias B., additional
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- 2024
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38. Bardet-Biedl syndrome improved diagnosis criteria and management:Inter European Reference Networks consensus statement and recommendations
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Dollfus, Hélène, Lilien, Marc R., Maffei, Pietro, Verloes, Alain, Muller, Jean, Bacci, Giacomo M., Cetiner, Metin, van den Akker, Erica L.T., Grudzinska Pechhacker, Monika, Testa, Francesco, Lacombe, Didier, Stokman, Marijn F., Simonelli, Francesca, Gouronc, Aurélie, Gavard, Amélie, van Haelst, Mieke M., Koenig, Jens, Rossignol, Sylvie, Bergmann, Carsten, Zacchia, Miriam, Leroy, Bart P., Mosbah, Héléna, Van Eerde, Albertien M., Mekahli, Djalila, Servais, Aude, Poitou, Christine, Valverde, Diana, Dollfus, Hélène, Lilien, Marc R., Maffei, Pietro, Verloes, Alain, Muller, Jean, Bacci, Giacomo M., Cetiner, Metin, van den Akker, Erica L.T., Grudzinska Pechhacker, Monika, Testa, Francesco, Lacombe, Didier, Stokman, Marijn F., Simonelli, Francesca, Gouronc, Aurélie, Gavard, Amélie, van Haelst, Mieke M., Koenig, Jens, Rossignol, Sylvie, Bergmann, Carsten, Zacchia, Miriam, Leroy, Bart P., Mosbah, Héléna, Van Eerde, Albertien M., Mekahli, Djalila, Servais, Aude, Poitou, Christine, and Valverde, Diana
- Abstract
Four European Reference Networks (ERN-EYE, ERKNet, Endo-ERN, ERN-ITHACA) have teamed up to establish a consensus statement and recommendations for Bardet-Biedl syndrome (BBS). BBS is an autosomal recessive ciliopathy with at least 26 genes identified to date. The clinical manifestations are pleiotropic, can be observed in utero and will progress with age. Genetic testing has progressively improved in the last years prompting for a revision of the diagnostic criteria taking into account clinical Primary and Secondary features, as well as positive or negative molecular diagnosis. This consensus statement also emphasizes on initial diagnosis, monitoring and lifelong follow-up, and symptomatic care that can be provided to patients and family members according to the involved care professionals. For paediatricians, developmental anomalies can be at the forefront for diagnosis (such as polydactyly) but can require specific care, such as for associated neuro developmental disorders. For ophthalmology, the early onset retinal degeneration requires ad hoc functional and imaging technologies and specific care for severe visual impairment. For endocrinology, among other manifestations, early onset obesity and its complications has benefited from better evaluation of eating behaviour problems, improved lifestyle programs, and from novel pharmacological therapies. Kidney and urinary track involvements warrants lifespan attention, as chronic kidney failure can occur and early management might improve outcome. This consensus recommends revised diagnostic criteria for BBS that will ensure certainty of diagnosis, giving robust grounds for genetic counselling as well as in the perspective of future trials for innovative therapies.
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- 2024
39. Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group
- Author
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Nefrologie, Child Health, Mekahli, Djalila, Müller, Roman-Ulrich, Marlais, Matko, Wlodkowski, Tanja, Haeberle, Stefanie, de Argumedo, Marta López, Bergmann, Carsten, Breysem, Luc, Fladrowski, Carla, Henske, Elizabeth P, Janssens, Peter, Jouret, François, Kingswood, John Christopher, Lattouf, Jean-Baptiste, Lilien, Marc, Maleux, Geert, Rozenberg, Micaela, Siemer, Stefan, Devuyst, Olivier, Schaefer, Franz, Kwiatkowski, David J, Rouvière, Olivier, Bissler, John, Nefrologie, Child Health, Mekahli, Djalila, Müller, Roman-Ulrich, Marlais, Matko, Wlodkowski, Tanja, Haeberle, Stefanie, de Argumedo, Marta López, Bergmann, Carsten, Breysem, Luc, Fladrowski, Carla, Henske, Elizabeth P, Janssens, Peter, Jouret, François, Kingswood, John Christopher, Lattouf, Jean-Baptiste, Lilien, Marc, Maleux, Geert, Rozenberg, Micaela, Siemer, Stefan, Devuyst, Olivier, Schaefer, Franz, Kwiatkowski, David J, Rouvière, Olivier, and Bissler, John
- Published
- 2024
40. Molecular based newborn screening in Germany: Follow-up for cystinosis
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Hohenfellner, Katharina, Bergmann, Carsten, Fleige, Tobias, Janzen, Nils, Burggraf, Siegfried, Olgemöller, Bernd, Gahl, William A., Czibere, Ludwig, Froschauer, Sonja, Röschinger, Wulf, Vill, Katharina, Harms, Erik, and Nennstiel, Uta
- Published
- 2019
- Full Text
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41. Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease
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Ottlewski, Isabel, Münch, Johannes, Wagner, Timo, Schönauer, Ria, Bachmann, Anette, Weimann, Antje, Hentschel, Julia, Lindner, Tom H., Seehofer, Daniel, Bergmann, Carsten, Jamra, Rami Abou, and Halbritter, Jan
- Published
- 2019
- Full Text
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42. Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort
- Author
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Wong, Katie, primary, Pitcher, David, additional, Braddon, Fiona, additional, Downward, Lewis, additional, Steenkamp, Retha, additional, Annear, Nicholas, additional, Barratt, Jonathan, additional, Bingham, Coralie, additional, Chrysochou, Constantina, additional, Coward, Richard J, additional, Game, David, additional, Griffin, Sian, additional, Hall, Matt, additional, Johnson, Sally, additional, Kanigicherla, Durga, additional, Karet Frankl, Fiona, additional, Kavanagh, David, additional, Kerecuk, Larissa, additional, Maher, Eamonn R, additional, Moochhala, Shabbir, additional, Pinney, Jenny, additional, Sayer, John A, additional, Simms, Roslyn, additional, Sinha, Smeeta, additional, Srivastava, Shalabh, additional, Tam, Frederick W K, additional, Turner, Andrew Neil, additional, Walsh, Stephen B, additional, Waters, Aoife, additional, Wilson, Patricia, additional, Wong, Edwin, additional, Taylor, Christopher Mark, additional, Nitsch, Dorothea, additional, Saleem, Moin, additional, Bockenhauer, Detlef, additional, Bramham, Kate, additional, Gale, Daniel P, additional, Abat, Sharirose, additional, Adalat, Shazia, additional, Agbonmwandolor, Joy, additional, Ahmad, Zubaidah, additional, Alejmi, Abdulfattah, additional, Almasarwah, Rashid, additional, Asgari, Ellie, additional, Ayers, Amanda, additional, Baharani, Jyoti, additional, Balasubramaniam, Gowrie, additional, Kpodo, Felix, additional, Bansal, Tarun, additional, Barratt, Alison, additional, Bates, Megan, additional, Bayne, Natalie, additional, Bendle, Janet, additional, Benyon, Sarah, additional, Bergmann, Carsten, additional, Bhandari, Sunil, additional, Boddana, Preetham, additional, Bond, Sally, additional, Branson, Angela, additional, Brearey, Stephen, additional, Brocklebank, Vicky, additional, Budwal, Sharanjit, additional, Byrne, Conor, additional, Cairns, Hugh, additional, Camilleri, Brian, additional, Campbell, Gary, additional, Capell, Alys, additional, Carmody, Margaret, additional, Carson, Marion, additional, Cathcart, Tracy, additional, Catley, Christine, additional, Cesar, Karine, additional, Chan, Melanie, additional, Chea, Houda, additional, Chess, James, additional, Cheung, Chee Kay, additional, Chick, Katy-Jane, additional, Chitalia, Nihil, additional, Christian, Martin, additional, Chrysochou, Tina, additional, Clark, Katherine, additional, Clayton, Christopher, additional, Clissold, Rhian, additional, Cockerill, Helen, additional, Coelho, Joshua, additional, Colby, Elizabeth, additional, Colclough, Viv, additional, Conway, Eileen, additional, Cook, H Terence, additional, Cook, Wendy, additional, Cooper, Theresa, additional, Crosbie, Sarah, additional, Cserep, Gabor, additional, Date, Anjali, additional, Davidson, Katherine, additional, Davies, Amanda, additional, Dhaun, Neeraj, additional, Dhaygude, Ajay, additional, Diskin, Lynn, additional, Dixit, Abhijit, additional, Doctolero, Eunice, additional, Dorey, Suzannah, additional, Downard, Lewis, additional, Drayson, Mark, additional, Dreyer, Gavin, additional, Dutt, Tina, additional, Etuk, Kufreabasi, additional, Evans, Dawn, additional, Finch, Jenny, additional, Flinter, Frances, additional, Fotheringham, James, additional, Francis, Lucy, additional, Gallagher, Hugh, additional, Garcia, Eva, additional, Gavrila, Madita, additional, Gear, Susie, additional, Geddes, Colin, additional, Gilchrist, Mark, additional, Gittus, Matt, additional, Goggolidou, Paraskevi, additional, Goldsmith, Christopher, additional, Gooden, Patricia, additional, Goodlife, Andrea, additional, Goodwin, Priyanka, additional, Grammatikopoulos, Tassos, additional, Gray, Barry, additional, Griffith, Megan, additional, Gumus, Steph, additional, Gupta, Sanjana, additional, Hamilton, Patrick, additional, Harper, Lorraine, additional, Harris, Tess, additional, Haskell, Louise, additional, Hayward, Samantha, additional, Hegde, Shivaram, additional, Hendry, Bruce, additional, Hewins, Sue, additional, Hewitson, Nicola, additional, Hillman, Kate, additional, Hiremath, Mrityunjay, additional, Howson, Alexandra, additional, Htet, Zay, additional, Huish, Sharon, additional, Hull, Richard, additional, Humphries, Alister, additional, Hunt, David P J, additional, Hunter, Karl, additional, Hunter, Samantha, additional, Ijeomah-Orji, Marilyn, additional, Inston, Nick, additional, Jayne, David, additional, Jenfa, Gbemisola, additional, Jenkins, Alison, additional, Jones, Caroline A, additional, Jones, Colin, additional, Jones, Amanda, additional, Jones, Rachel, additional, Kamesh, Lavanya, additional, Karim, Mahzuz, additional, Kaur, Amrit, additional, Kearley, Kelly, additional, Khwaja, Arif, additional, King, Garry, additional, King, Grant, additional, Kislowska, Ewa, additional, Klata, Edyta, additional, Kokocinska, Maria, additional, Lambie, Mark, additional, Lawless, Laura, additional, Ledson, Thomas, additional, Lennon, Rachel, additional, Levine, Adam P, additional, Lai, Ling Wai Maggie, additional, Lipkin, Graham, additional, Lovitt, Graham, additional, Lyons, Paul, additional, Mabillard, Holly, additional, Mackintosh, Katherine, additional, Mahdi, Khalid, additional, Maher, Eamonn, additional, Marchbank, Kevin J, additional, Mark, Patrick B, additional, Masoud, Sherry, additional, Masunda, Bridgett, additional, Mavani, Zainab, additional, Mayfair, Jake, additional, McAdoo, Stephen, additional, Mckinnell, Joanna, additional, Melhem, Nabil, additional, Meyrick, Simon, additional, Morgan, Putnam, additional, Morgan, Ann, additional, Muhammad, Fawad, additional, Murray, Shona, additional, Novobritskaya, Kristina, additional, Ong, Albert CM, additional, Oni, Louise, additional, Osmaston, Kate, additional, Padmanabhan, Neal, additional, Parkes, Sharon, additional, Patrick, Jean, additional, Pattison, James, additional, Paul, Riny, additional, Percival, Rachel, additional, Perkins, Stephen J, additional, Persu, Alexandre, additional, Petchey, William G, additional, Pickering, Matthew C, additional, Pinney, Jennifer, additional, Plumb, Lucy, additional, Plummer, Zoe, additional, Popoola, Joyce, additional, Post, Frank, additional, Power, Albert, additional, Pratt, Guy, additional, Pusey, Charles, additional, Rabara, Ria, additional, Rabuya, May, additional, Raju, Tina, additional, Javier, Chadd, additional, Roberts, Ian S D, additional, Roufosse, Candice, additional, Rumjon, Adam, additional, Salama, Alan, additional, Sandford, Richard, additional, Sandu, Kanwaljit S, additional, Sarween, Nadia, additional, Sebire, Neil, additional, Selvaskandan, Haresh, additional, Sharma, Asheesh, additional, Sharples, Edward J, additional, Sheerin, Neil, additional, Shetty, Harish, additional, Shroff, Rukshana, additional, Sinha, Manish, additional, Smith, Kerry, additional, Smith, Lara, additional, Stott, Ian, additional, Stroud, Katerina, additional, Swift, Pauline, additional, Szklarzewicz, Justyna, additional, Tam, Fred, additional, Tan, Kay, additional, Taylor, Robert, additional, Tischkowitz, Marc, additional, Thomas, Kay, additional, Tse, Yincent, additional, Turnbull, Alison, additional, Turner, A Neil, additional, Tyerman, Kay, additional, Usher, Miranda, additional, Venkat-Raman, Gopalakrishnan, additional, Walker, Alycon, additional, Watt, Angela, additional, Webster, Phil, additional, Wechalekar, Ashutosh, additional, Welsh, Gavin I, additional, West, Nicol, additional, Wheeler, David, additional, Wiles, Kate, additional, Willcocks, Lisa, additional, Williams, Angharad, additional, Williams, Emma, additional, Williams, Karen, additional, Wilson, Deborah H, additional, Wilson, Patricia D, additional, Winyard, Paul, additional, Wong, Katie, additional, Wood, Grahame, additional, Woodward, Emma, additional, Woodward, Len, additional, Woolf, Adrian, additional, and Wright, David, additional
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- 2024
- Full Text
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43. Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic DNAJC3 Variants
- Author
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Welters, Alena, primary, Nortmann, Oliver, additional, Wörmeyer, Laura, additional, Freiberg, Clemens, additional, Eberhard, Daniel, additional, Bachmann, Nadine, additional, Bergmann, Carsten, additional, Mayatepek, Ertan, additional, Meissner, Thomas, additional, and Kummer, Sebastian, additional
- Published
- 2024
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44. Nephrolithiasis Associated with Nephrocalcinosis Is Primarily Composed of Carbonate Apatite
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Kiener, Teresa Antonia, primary, Moré, Elena, additional, Franzen, Michael, additional, Cadamuro, Janne, additional, Schwarz, Christoph, additional, Bergmann, Carsten, additional, and Salmhofer, Hermann, additional
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- 2024
- Full Text
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45. Consensus Expert Recommendations for the Diagnosis and Management of Autosomal Recessive Polycystic Kidney Disease: Report of an International Conference
- Author
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Guay-Woodford, Lisa M, Bissler, John J, Braun, Michael C, Bockenhauer, Detlef, Cadnapaphornchai, Melissa A, Dell, Katherine M, Kerecuk, Larissa, Liebau, Max C, Alonso-Peclet, Maria H, Shneider, Benjamin, Emre, Sukru, Heller, Theo, Kamath, Binita M, Murray, Karen F, Moise, Kenneth, Eichenwald, Eric E, Evans, Jacquelyn, Keller, Roberta L, Wilkins-Haug, Louise, Bergmann, Carsten, Gunay-Aygun, Meral, Hooper, Stephen R, Hardy, Kristina K, Hartung, Erum A, Streisand, Randi, Perrone, Ronald, and Moxey-Mims, Marva
- Subjects
Child ,Child ,Preschool ,Humans ,Infant ,Infant ,Newborn ,Polycystic Kidney ,Autosomal Recessive ,Practice Guidelines as Topic ,Prenatal Diagnosis ,Human Movement and Sports Sciences ,Paediatrics and Reproductive Medicine ,Pediatrics - Abstract
Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is a severe, typically early onset form of cystic disease that primarily involves the kidneys and biliary tract. Phenotypic expression and age at presentation can be quite variable. The incidence of ARPKD is 1 in 20,000 live births, and its pleotropic manifestations are potentially life-threatening. Optimal care requires proper surveillance to limit morbidity and mortality, knowledgeable approaches to diagnosis and treatment, and informed strategies to optimize quality of life. Clinical management therefore is ideally directed by multidisciplinary care teams consisting of perinatologists, neonatologists, nephrologists, hepatologists, geneticists, and behavioral specialists to coordinate patient care from the perinatal period to adulthood. In May 2013, an international team of 25 multidisciplinary specialists from the US, Canada, Germany, and the United Kingdom convened in Washington, DC, to review the literature published from 1990 to 2013 and to develop recommendations for diagnosis, surveillance, and clinical management. Identification of the gene PKHD1, and the significant advances in perinatal care, imaging, medical management, and behavioral therapies over the past decade, provide the foundational elements to define diagnostic criteria and establish clinical management guidelines as the first steps towards standardizing the clinical care for ARPKD patients. The key issues discussed included recommendations regarding perinatal interventions, diagnostic criteria, genetic testing, management of renal and biliary-associated morbidities, and behavioral assessment. The meeting was funded by the National Institutes of Health and an educational grant from the Polycystic Kidney Disease Foundation. Here we summarize the discussions and provide an updated set of diagnostic, surveillance, and management recommendations for optimizing the pediatric care of patients with ARPKD. Specialist care of ARPKD-related complications including dialysis, transplantation, and management of severe portal hypertension will be addressed in a subsequent report. Given the paucity of information regarding targeted therapies in ARPKD, this topic was not addressed in this conference.”
- Published
- 2014
46. Verbesserte Versorgungs-und Behandlungsoptionen für Patienten mit Hyperphagie-assoziierter Adipositas bei Bardet-Biedl-Syndrom.
- Author
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Cetiner, Metin, Bergmann, Carsten, Bettendorf, Markus, Faust, Johanna, Gäckler, Anja, Gillissen, Bernarda, Hansen, Matthias, Kerber, Maximilian, Klaus, Günter, König, Jens, Kühlewein, Laura, Oh, Jun, Richter-Unruh, Annette, von Schnurbein, Julia, Wabitsch, Martin, Weihrauch-Blüher, Susann, and Pape, Lars
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- 2024
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47. Correction to: The wind of change in the management of autosomal dominant polycystic kidney disease in childhood
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Gimpel, Charlotte, Bergmann, Carsten, and Mekahli, Djalila
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- 2022
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48. The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development
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Hoff, Sylvia, Epting, Daniel, Falk, Nathalie, Schroda, Sophie, Braun, Daniela A., Halbritter, Jan, Hildebrandt, Friedhelm, Kramer-Zucker, Albrecht, Bergmann, Carsten, Walz, Gerd, and Lienkamp, Soeren S.
- Published
- 2018
- Full Text
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49. Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease
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Ranguelov, Nadejda, Godefroid, Nathalie, Collard, Laure, Lombet, Jacques, Maquet, Julie, Schalk, Gesa, Querfeld, Uwe, Beck, Bodo B., Benzing, Thomas, Buettner, Reinhard, Grundmann, Franziska, Kurschat, Christine, Benz, Kerstin, Tzschoppe, Anja, Buchholz, Björn, Buescher, Rainer, Häffner, Karsten, Pohl, Martin, Gross, Oliver, Krügel, Jenny, Stock, Johanna, Patzer, Ludwig, Oh, Jun, Bernhardt, Wanja, Doyon, Anke, Vinke, Tobias, Sander, Anja, Henn, Michael, Derichs, Ute, Beetz, Rolf, Jeck, Nikola, Lange-Sperandio, Bärbel, Ponsel, Sabine, Kusser, Franziska, Uetz, Barbara, Benz, Marcus, Schmidt, Silke, Huppertz-Kessler, Christina, Kranz, Birgitta, Titieni, Andrea, Wurm, Donald, Leichter, Heinz E., Bald, Martin, Billing, Heiko, Nabhan, Marwa M., Lara, Luis Enrique, Papachristou, Fotios, Emma, Francesco, Cerkauskiene, Rimante, Azukaitis, Karolis, Wasilewska, Anna, Balasz-Chmielewska, Irena, Miklaszewska, Monika, Tkaczyk, Marcin, Sikora, Przemyslaw, Zaniew, Marcin, Niemirska, Ania, Antoniewicz, Jolanta, Lesiak, Justyna, Afonso, Alberto Caldas, Teixeira, Ana, Milosevski-Lomic, Gordana, Paripović, Dusan, Peco-Antic, Amira, Papizh, Svetlana, Bayazit, Aysun Karabay, Anarat, Ali, Soylu, Alper, Kavukcu, Salih, Candan, Cengiz, Caliskan, Salim, Canpolat, Nur, Emre, Sevinc, Alpay, Harika, Akinci, Nurver, Conkar, Secil, Poyrazoglu, Hakan M., Dusunsel, Ruhan, Burgmaier, Kathrin, Kunzmann, Kevin, Ariceta, Gema, Bergmann, Carsten, Buescher, Anja Katrin, Burgmaier, Mathias, Dursun, Ismail, Duzova, Ali, Eid, Loai, Erger, Florian, Feldkoetter, Markus, Galiano, Matthias, Geßner, Michaela, Goebel, Heike, Gokce, Ibrahim, Haffner, Dieter, Hooman, Nakysa, Hoppe, Bernd, Jankauskiene, Augustina, Klaus, Guenter, König, Jens, Litwin, Mieczyslaw, Massella, Laura, Mekahli, Djalila, Melek, Engin, Mir, Sevgi, Pape, Lars, Prikhodina, Larisa, Ranchin, Bruno, Schild, Raphael, Seeman, Tomas, Sever, Lale, Shroff, Rukshana, Soliman, Neveen A., Stabouli, Stella, Stanczyk, Malgorzata, Tabel, Yilmaz, Taranta-Janusz, Katarzyna, Testa, Sara, Thumfart, Julia, Topaloglu, Rezan, Weber, Lutz Thorsten, Wicher, Dorota, Wühl, Elke, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Zerres, Klaus, Dötsch, Jörg, Schaefer, Franz, and Liebau, Max Christoph
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- 2018
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50. A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes
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Rinschen, Markus M., Gödel, Markus, Grahammer, Florian, Zschiedrich, Stefan, Helmstädter, Martin, Kretz, Oliver, Zarei, Mostafa, Braun, Daniela A., Dittrich, Sebastian, Pahmeyer, Caroline, Schroder, Patricia, Teetzen, Carolin, Gee, HeonYung, Daouk, Ghaleb, Pohl, Martin, Kuhn, Elisa, Schermer, Bernhard, Küttner, Victoria, Boerries, Melanie, Busch, Hauke, Schiffer, Mario, Bergmann, Carsten, Krüger, Marcus, Hildebrandt, Friedhelm, Dengjel, Joern, Benzing, Thomas, and Huber, Tobias B.
- Published
- 2018
- Full Text
- View/download PDF
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