774 results on '"Dollfus, Hélène"'
Search Results
2. Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey
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Mancuso, Michelangelo, Lopriore, Piervito, Lamperti, Costanza, Klopstock, Thomas, Rahman, Shamima, Licchetta, Laura, Kornblum, Cornelia, Wortmann, Saskia B., Dollfus, Hélène, Papadopoulou, Maria T., Arzimanoglou, Alexis, Scarpa, Maurizio, Graessner, Holm, and Evangelista, Teresinha
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- 2024
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3. Quality of life, functioning and participation of children and adolescents with visual impairment: A scoping review
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Lanza, Martina, Incagli, Francesca, Ceccato, Chiara, Reffo, Maria Eleonora, Mercuriali, Elena, Parmeggiani, Francesco, Pagliano, Emanuela, Saletti, Veronica, Leonardi, Matilde, Suppiej, Agnese, Dollfus, Hélène, LeBreton, David, Finger, Robert P., Leroy, Bart Peter, Zemaitiene, Reda, Nowomiejska, Katarzyna, and Guastafierro, Erika
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- 2024
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4. Could internal limiting membrane peeling before Voretigen neparvovec-ryzl subretinal injection prevent focal chorioretinal atrophy?
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Dormegny, Lea, Studer, Fouzia, Sauer, Arnaud, Ballonzoli, Laurent, Speeg-Schatz, Claude, Bourcier, Tristan, Dollfus, Helene, and Gaucher, David
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- 2024
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5. Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results
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Forsythe, Elizabeth, Haws, Robert M., Argente, Jesús, Beales, Philip, Martos-Moreno, Gabriel Á., Dollfus, Hélène, Chirila, Costel, Gnanasakthy, Ari, Buckley, Brieana C., Mallya, Usha G., Clément, Karine, and Haqq, Andrea M.
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- 2023
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6. The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
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Wissinger, Bernd, Baumann, Britta, Buena-Atienza, Elena, Ravesh, Zeinab, Cideciyan, Artur V., Stingl, Katarina, Audo, Isabelle, Meunier, Isabelle, Bocquet, Beatrice, Traboulsi, Elias I., Hardcastle, Alison J., Gardner, Jessica C., Michaelides, Michel, Branham, Kari E., Rosenberg, Thomas, Andreasson, Sten, Dollfus, Hélène, Birch, David, Vincent, Andrea L., Martorell, Loreto, Mora, Jaume Català, Kellner, Ulrich, Rüther, Klaus, Lorenz, Birgit, Preising, Markus N., Manfredini, Emanuela, Zarate, Yuri A., Vijzelaar, Raymon, Zrenner, Eberhart, Jacobson, Samuel G., and Kohl, Susanne
- Published
- 2022
7. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies
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Attié-Bitach, Tania, Comier-Daire, Valerie, Rozet, Jean-Michel, Frishberg, Yaacov, Llanas, Brigitte, Broyer, Michel, Mohsin, Nabil, Macher, Marie-Alice, Philip, Nicole, Baudouin, Véronique, Brackman, Damian, Loirat, Chantal, Charbit, Marina, Dehennault, Maud, Guyot, Claude, Bataille, Pierre, Elting, Mariet, Deschenes, Georges, Gropman, Andrea, Guest, Geneviève, Gagnadoux, Marie-France, Nicoud, Philippe, Cochat, Pierre, Ranchin, Bruno, Bensman, Albert, Guerrot, Anne-Marie, Knebelmann, Bertrand, Bilge, Ilmay, Bruno, Danièle, Burtey, Stéphane, Rouvière, Caroline Rousset, Caudwell, Valérie, Morin, Denis, Dollfus, Hélène, Maisin, Anne, Hamel, Christian, Bieth, Eric, Gie, Sophie, Goodship, Judith, Roussey, Gwenaelle, La Selve, Hermine, Nivet, Hubert, Bessenay, Lucie, Caillez, Mathilde, Palcoux, Jean Bernard, Benoît, Stéphane, Dubot, Philippe, Fila, Marc, Giuliano, Fabienne, Iftene, Daouya, Kessler, Michele, Kwon, Theresa, Lahoche, Anine, Laurent, Audrey, Leclerc, Anne-Laure, Milford, David, Neuhaus, Thomas, Odent, Sylvie, Eckart, Philippe, Chauveau, Dominique, Niaudet, Patrick, Repetto, Horacio, Taque, Sophie, Bruel, Alexandra, Noel-Botte, Alexandra, Launay, Emma Allain, Allard, Lisa, Anlicheau, Dany, Adra, Anne-Laure, Garnier, Arnaud, Nagra, Arvind, Baatard, Remy, Bacchetta, Justine, Sadikoglu, Banu, Barnerias, Christine, Barthelemy, Anne, Basel, Lina, Bassilios, Nader, Ben Maiz, Hedi, Ben Moussa, Fatma, Benmati, Faïza, Berthaud, Romain, Bertholet, Aurélia, Blanchier, Dominique, Boffa, Jean Jacques, Bouchireb, Karim, Bouhabel, Ihab, Boukerroucha, Zakaria, Bourdat-Michel, Guylhène, Boute, Odile, Brochard, Karine, Caumes, Roseline, Elalaoui, Siham Chafai, Chamontin, Bernard, Chastang, Marie Caroline, Pietrement, Christine, Richer, Christine, Legendre, Christophe, Dahan, Karin, Dalla-Vale, Fabienne, Thibaudin, Damien, Dauvergne, Maxime, Davourie, Salandre, Debeukelaer, Martin, Delbet, Jean Daniel, Deltas, Constantinos, Graber, Denis, Devillars, Nadège, Diouf, Boucar, Fenzy, Martine Doco, André, Jean-Luc, Joly, Dominique, Fryer, Alan, Albano, Laetitia, Cassuto, Elisabeth, Pincon, Aline, Medeira, Ana, Chaussenot, Annabelle, Mensire-Marinier, Anne, Bouissou, Francois, Decramer, Stephane, Bottani, Armand, Hummel, Aurélie, Karras, Alexandre, Katz, Avi, Azema, Christine, Janbon, Bénédicte, Roussel, Bernard, Bonniol, Claude, Mariat, Christiophe, Champion, Gérard, Chantreuil, Deborah, Chassaing, Nicolas, Mousson, Christiane, Baudeau, Christine, Cuntz, Delphine Hafdar, Mignot, Cyril, Dehoux, Laurene, Lacombe, Didier, Hannedouche, Thierry, Mérieau, Elodie, Charlin, Emmanuelle, Gauthier, Eric, Plasse, Florent, Faguer, Stanislas, Lebas, Fanny, Demurger, Florence, Emma, Francesco, Cartault, François, Dumont, Geneviève, Godefroid, Nathalie, Guigonis, Vincent, Hillaire, Sophie, Groothoff, Jaap, Dudley, Jan, Jourde-Chiche, Noémie, El Karoui, Khalil, Krid, Saoussen, Coudert, Krier, Bencheick, Larbi, Yver, Laurent, Lavocat, Marie-Pierre, De Sagazan, Le Monies, Leroy, Valerie, Thibaudin, Lise, Ingulli, Liz, Gwanmesia, Lorraine, Burglen, Lydie, Saïd-Menthon, Marie-Hélène, Carrera, Marta, Nizon, Mathilde, Melander, Catherine, Foulard, Michel, Blayo, Monique, Prinseau, Jacques, Jay, Nadine, Brun, Nathalie, Camille, Nicolas, Nobili, François, Devuyst, Olivier, Ben Brahim, Ouafa, Parvex, Paloma, Sabourin, Laurence Perrin, Blanc, Philippe, Vanhille, Philippe, Galichon, Pierre, Pierrepont, Sophie, Planquois, Vincent, Poussard, Gwenaelle, Noble, Claire Pouteil, Allal, Radia, Bernard, Raphaelle, Mounet, Raynaud, Cahen, Rémi, Touraine, Renaud, Rigothier, Claire, Ryckewaert, Amélie, Sacquepee, Mathieu, El Chehadeh, Salima, Samaille, Charlotte, Haq, Shuman, Simckes, Ari, Lanoiselée, Stéphanie, Tellier, Stephanie, Subra, Jean-François, Cloarec, Sylvie, Tenenbam, Julie, Lamy, Thomas, Garraud, Valérie Drouin, Valette, Huguette, Meyssonnier, Vanina, Vargas-Poussou, Rosa, Snajer, Yves, Durault, Sandrine, Plaisier, Emmanuelle, Berard, Etienne, Fakhouri, Fadi, Louillet, Ferielle, Finielz, Paul, Fischbach, Michel, Foliguet, Bernard, Francois-Pradier, Hélène, Garaix, Florentine, Gerard, Marion, Rizzoni, Gianfranco, Gilbert, Brigitte, Glotz, Denis, Dubrasquet, Astrid Godron, Grünfeld, Jean-Pierre, Bollee, Guillaume, Hall, Michelle, Hansson, Sverker, Haye, Damien, Taffin, Hélène, Hildebrandt, Friedhelm, Hourmand, Maryvonne, Kayserili, Hümya, Tack, Ivan, Jacquemont, Marie Line, Fabre-Teste, Jennifer, Kashtan, Cliff, Van Hoeck, Kkoen, Klein, Alexandre, Knefati, Yannick, Knoers, Nine, Konrad, Martin, Lachaux, Alain, Landru, Isabelle, Landthaler, Gilbert, Lang, Philippe, Le Pogamp, Patrick, Legris, Tristan, Didailler, Catherine, Lobbedez, Thierry, de Parscau, Loïc, Pinson, Lucile, Maheut, Hervé, Duval-Arnould, Marc, Rio, Marlène, Gubler, Marie-Claire, Merville, Pierre, Mestrallet, Guillaume, Meunier, Maite, Moreau, Karine, Harambat, Jérôme, Morgan, Graeme, Mourad, Georges, Stuber, Niksic, Boespflug-Tanguy, Odile, Dunand, Olivier, Niel, Olivier, Ouali, Nacera, Malvezzi, Paolo, Jaoude, Pauline Abou, Pelletier, Solenne, Peltier, Julie, Petersen, M.B., Michel, Philippe, Rémy, Philippe, Philit, Jean-Baptiste, Pichault, Valérie, Billette de Villemeur, Thierry, Boudailliez, Bernard, Leheup, Bruno, Dossier, Claire, Djeddi, Djamal-Dine, Berland, Yves, Hurault de Ligny, Bruno, Rigden, Susan, Robino, Christophe, Rossi, Annick, Sarnacki, Sabine, Saidani, Messaoud, Sartorius, Albane Brodin, Schäfer, Elise, Laszlo, Sztriha, Thouret, Marie-Christine, Thuillier-Lecouf, Angélique, Trachtman, Howard, Trivin, Claire, Tsimaratos, Michel, Van Damme-Lombaerts, Rita, Willems, Marjolaine, Youssef, Michel, Zaloszyc, Ariane, Zawodnik, Alexis, Ziliotis, Marie-Julia, Petzold, Friederike, Billot, Katy, Chen, Xiaoyi, Henry, Charline, Filhol, Emilie, Martin, Yoann, Avramescu, Marina, Douillet, Maxime, Morinière, Vincent, Krug, Pauline, Jeanpierre, Cécile, Tory, Kalman, Boyer, Olivia, Burgun, Anita, Servais, Aude, Salomon, Remi, Benmerah, Alexandre, Heidet, Laurence, Garcelon, Nicolas, Antignac, Corinne, Zaidan, Mohamad, and Saunier, Sophie
- Published
- 2023
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8. Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1
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Pacot, Laurence, Pelletier, Valerie, Chansavang, Albain, Briand-Suleau, Audrey, Burin des Roziers, Cyril, Coustier, Audrey, Maillard, Theodora, Vaucouleur, Nicolas, Orhant, Lucie, Barbance, Cécile, Lermine, Alban, Hamzaoui, Nadim, Hadjadj, Djihad, Laurendeau, Ingrid, El Khattabi, Laïla, Nectoux, Juliette, Vidaud, Michel, Parfait, Béatrice, Dollfus, Hélène, Pasmant, Eric, and Vidaud, Dominique
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- 2023
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9. The Molecular Architecture of Native BBSome Obtained by an Integrated Structural Approach
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Chou, Hui-Ting, Apelt, Luise, Farrell, Daniel P, White, Susan Roehl, Woodsmith, Jonathan, Svetlov, Vladimir, Goldstein, Jaclyn S, Nager, Andrew R, Li, Zixuan, Muller, Jean, Dollfus, Hélène, Nudler, Evgeny, Stelzl, Ulrich, DiMaio, Frank, Nachury, Maxence V, and Walz, Thomas
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Biochemistry and Cell Biology ,Biological Sciences ,ADP-Ribosylation Factors ,Animals ,Cattle ,Cryoelectron Microscopy ,Homeostasis ,Humans ,Mass Spectrometry ,Microtubule-Associated Proteins ,Models ,Molecular ,Protein Conformation ,Protein Multimerization ,Retina ,BBSome ,cilia ,trafficking ,Chemical Sciences ,Information and Computing Sciences ,Biophysics ,Biological sciences ,Chemical sciences - Abstract
The unique membrane composition of cilia is maintained by a diffusion barrier at the transition zone that is breached when the BBSome escorts signaling receptors out of cilia. Understanding how the BBSome removes proteins from cilia has been hampered by a lack of structural information. Here, we present a nearly complete Cα model of BBSome purified from cow retina. The model is based on a single-particle cryo-electron microscopy density map at 4.9-Å resolution that was interpreted with the help of comprehensive Rosetta-based structural modeling constrained by crosslinking mass spectrometry data. We find that BBSome subunits have a very high degree of interconnectivity, explaining the obligate nature of the complex. Furthermore, like other coat adaptors, the BBSome exists in an autoinhibited state in solution and must thus undergo a conformational change upon recruitment to membranes by the small GTPase ARL6/BBS3. Our model provides the first detailed view of the machinery enabling ciliary exit.
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- 2019
10. Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period
- Author
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Haqq, Andrea M, Chung, Wendy K, Dollfus, Hélène, Haws, Robert M, Martos-Moreno, Gabriel Á, Poitou, Christine, Yanovski, Jack A, Mittleman, Robert S, Yuan, Guojun, Forsythe, Elizabeth, Clément, Karine, and Argente, Jesús
- Published
- 2022
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11. Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study
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Forde, Claire, Burkitt-Wright, Emma, Turnpenny, Peter D., Haan, Eric, Ealing, John, Mansour, Sahar, Holder, Muriel, Lahiri, Nayana, Dixit, Abhijit, Procter, Annie, Pacot, Laurence, Vidaud, Dominique, Capri, Yline, Gerard, Marion, Dollfus, Hélène, Schaefer, Elise, Quelin, Chloé, Sigaudy, Sabine, Busa, Tiffany, Vera, Gabriella, Damaj, Lena, Messiaen, Ludwine, Stevenson, David A., Davies, Peter, Palmer-Smith, Sheila, Callaway, Alison, Wolkenstein, Pierre, Pasmant, Eric, and Upadhyaya, Meena
- Published
- 2022
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12. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
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Köhler, Sebastian, Carmody, Leigh, Vasilevsky, Nicole, Jacobsen, Julius OB, Danis, Daniel, Gourdine, Jean-Philippe, Gargano, Michael, Harris, Nomi L, Matentzoglu, Nicolas, McMurry, Julie A, Osumi-Sutherland, David, Cipriani, Valentina, Balhoff, James P, Conlin, Tom, Blau, Hannah, Baynam, Gareth, Palmer, Richard, Gratian, Dylan, Dawkins, Hugh, Segal, Michael, Jansen, Anna C, Muaz, Ahmed, Chang, Willie H, Bergerson, Jenna, Laulederkind, Stanley JF, Yüksel, Zafer, Beltran, Sergi, Freeman, Alexandra F, Sergouniotis, Panagiotis I, Durkin, Daniel, Storm, Andrea L, Hanauer, Marc, Brudno, Michael, Bello, Susan M, Sincan, Murat, Rageth, Kayli, Wheeler, Matthew T, Oegema, Renske, Lourghi, Halima, Della Rocca, Maria G, Thompson, Rachel, Castellanos, Francisco, Priest, James, Cunningham-Rundles, Charlotte, Hegde, Ayushi, Lovering, Ruth C, Hajek, Catherine, Olry, Annie, Notarangelo, Luigi, Similuk, Morgan, Zhang, Xingmin A, Gómez-Andrés, David, Lochmüller, Hanns, Dollfus, Hélène, Rosenzweig, Sergio, Marwaha, Shruti, Rath, Ana, Sullivan, Kathleen, Smith, Cynthia, Milner, Joshua D, Leroux, Dorothée, Boerkoel, Cornelius F, Klion, Amy, Carter, Melody C, Groza, Tudor, Smedley, Damian, Haendel, Melissa A, Mungall, Chris, and Robinson, Peter N
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Biological Sciences ,Bioinformatics and Computational Biology ,Genetics ,Rare Diseases ,Human Genome ,Networking and Information Technology R&D (NITRD) ,Generic health relevance ,Good Health and Well Being ,Biological Ontologies ,Computational Biology ,Congenital Abnormalities ,Databases ,Genetic ,Genetic Predisposition to Disease ,Genetic Variation ,Humans ,Internet ,Knowledge Bases ,Phenotype ,Whole Genome Sequencing ,Environmental Sciences ,Information and Computing Sciences ,Developmental Biology ,Biological sciences ,Chemical sciences ,Environmental sciences - Abstract
The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions of clinical abnormalities and computable disease definitions have made HPO the de facto standard for deep phenotyping in the field of rare disease. The HPO's interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data. It also plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data. Since the HPO was first introduced in 2008, its users have become both more numerous and more diverse. To meet these emerging needs, the project has added new content, language translations, mappings and computational tooling, as well as integrations with external community data. The HPO continues to collaborate with clinical adopters to improve specific areas of the ontology and extend standardized disease descriptions. The newly redesigned HPO website (www.human-phenotype-ontology.org) simplifies browsing terms and exploring clinical features, diseases, and human genes.
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- 2019
13. Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders
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Liu, James, primary, He, Yi, additional, Lwin, Cara, additional, Han, Marina, additional, Guan, Bin, additional, Naik, Amelia, additional, Bender, Chelsea, additional, Moore, Nia, additional, Huryn, Laryssa A, additional, Sergeev, Yuri V, additional, Qian, Haohua, additional, Zeng, Yong, additional, Dong, Lijin, additional, Liu, Pinghu, additional, Lei, Jingqi, additional, Haugen, Carl J, additional, Prasov, Lev, additional, Shi, Ruifang, additional, Dollfus, Hélène, additional, Aristodemou, Petros, additional, Laich, Yannik, additional, Németh, Andrea H, additional, Taylor, John, additional, Downes, Susan, additional, Krawczynski, Maciej R, additional, Meunier, Isabelle, additional, Strassberg, Melissa, additional, Tenney, Jessica, additional, Gao, Josephine, additional, Shear, Matthew A, additional, Moore, Anthony T, additional, Duncan, Jacque L, additional, Menendez, Beatriz, additional, Hull, Sarah, additional, Vincent, Andrea L, additional, Siskind, Carly E, additional, Traboulsi, Elias I, additional, Blackstone, Craig, additional, Sisk, Robert A, additional, Miraldi Utz, Virginia, additional, Webster, Andrew R, additional, Michaelides, Michel, additional, Arno, Gavin, additional, Synofzik, Matthis, additional, and Hufnagel, Robert B, additional
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- 2024
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14. Contributors
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Aleman, Tomas S., primary, Amati-Bonneau, Patrizia, additional, Arveiler, Benoît, additional, Ashworth, Jane L., additional, Audo, Isabelle, additional, Bacci, Giacomo M., additional, Balducci, Nicole, additional, Balikova, Irina, additional, Bauwens, Miriam, additional, Barboni, Piero, additional, Birtel, Johannes, additional, Biswas, Susmito, additional, Black, Graeme C.M., additional, Blanchet, Catherine, additional, Bocquet, Béatrice, additional, Boon, Camiel J.F., additional, Brézin, Antoine, additional, Roziers, Cyril Burin des, additional, Burkitt-Wright, Emma, additional, Callea, Michele, additional, Carbonelli, Michele, additional, Carelli, Valerio, additional, Cehajic-Kapetanovic, Jasmina, additional, Chandler, Kate E., additional, Chandra, Aman, additional, Clayton-Smith, Jill, additional, Colijn, Johanna M., additional, Coppieters, Frauke, additional, A. Cukras, Catherine, additional, Daly, Avril, additional, De Baere, Elfride, additional, De Zaeytijd, Julie, additional, Borman, Arundhati Dev, additional, Dollfus, Hélène, additional, Houge, Sofia Douzgou, additional, Engle, Elizabeth C., additional, Escher, Pascal, additional, Evans, D. Gareth, additional, Fahnehjelm, Kristina Teär, additional, Fasser, Christina, additional, Fiore, Mathieu, additional, Fujinami, Kaoru, additional, Fujinami-Yokokawa, Yu, additional, Gallie, Brenda L., additional, Georgiou, Michalis, additional, Gliem, Martin, additional, Grudzinska Pechhacker, Monika K., additional, Hall, Georgina, additional, Harmening, Wolf M., additional, Henderson, Robert H., additional, Héon, Elise, additional, Hirji, Nashila, additional, Holz, Frank G., additional, A. Huryn, Laryssa, additional, Jones, Elizabeth A., additional, Kalatzis, Vasiliki, additional, Khan, Arif O., additional, Kim, Ungsoo S., additional, Klaver, Caroline C.W., additional, Kumaran, Neruban, additional, La Morgia, Chiara, additional, Lalloo, Fiona, additional, Lasseaux, Eulalie, additional, Lee, Helena, additional, Lenaers, Guy, additional, Lenassi, Eva, additional, Leroy, Bart P., additional, Liskova, Petra, additional, Lloyd, I. Christopher, additional, MacLaren, Robert E., additional, Mahroo, Omar A., additional, Mejia-Vergara, Alvaro J., additional, Meunier, Isabelle, additional, Michaelides, Michel, additional, Moore, Anthony T., additional, Moosajee, Mariya, additional, Morice-Picard, Fanny, additional, Munier, Francis L., additional, Neveu, Magella M., additional, O'Neil, Erin C., additional, Nordenström, Anna, additional, Parry, Neil R.A., additional, Patrício, Maria I., additional, Parulekar, Manoj V., additional, Ram, Dipak, additional, Ramsden, Simon C., additional, Robitaille, Johane, additional, Robson, Anthony G., additional, Rothschild, Pierre-Raphaël, additional, Sadun, Alfredo A., additional, Schuerch, Kaspar, additional, Seabra, Miguel C., additional, Self, Jay E., additional, Sergouniotis, Panagiotis I., additional, Shaya, Fadi, additional, Sieving, Paul A., additional, Strubbe, Ine, additional, Simonelli, Francesca, additional, Small, Kent W., additional, Snead, Martin P., additional, Stepien, Karolina M., additional, Talib, Mays, additional, Taylor, Rachel L., additional, Testa, Francesco, additional, Thiadens, Alberta A.H.J., additional, Traboulsi, Elias I., additional, Tran, Viet H., additional, Vaclavik, Veronika, additional, Valleix, Sophie, additional, Van Cauwenbergh, Caroline, additional, Van Schil, Kristof, additional, Whitman, Mary C., additional, Willoughby, Colin E., additional, Xue, Kanmin, additional, Yang, Jingyan, additional, Yu-Wai-Man, Patrick, additional, Zeitz, Christina, additional, and Zinkernagel, Martin, additional
- Published
- 2022
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15. Functional Characterization of Splice Variants in the Diagnosis of Albinism.
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Diallo, Modibo, Courdier, Cécile, Mercier, Elina, Sequeira, Angèle, Defay-Stinat, Alicia, Plaisant, Claudio, Mesdaghi, Shahram, Rigden, Daniel, Javerzat, Sophie, Lasseaux, Eulalie, Bourgeade, Laetitia, Audebert-Bellanger, Séverine, Dollfus, Hélène, Hadj-Rabia, Smail, Morice-Picard, Fanny, Philibert, Manon, Sidibé, Mohamed Kole, Smirnov, Vasily, Sylla, Ousmane, and Michaud, Vincent
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MISSENSE mutation ,ALBINISM ,HEREDITY ,INTRONS ,SEQUENCE analysis - Abstract
Albinism is a genetically heterogeneous disease in which 21 genes are known so far. Its inheritance mode is autosomal recessive except for one X-linked form. The molecular analysis of exonic sequences of these genes allows for about a 70% diagnostic rate. About half (15%) of the unsolved cases are heterozygous for one pathogenic or probably pathogenic variant. Assuming that the missing variant may be located in non-coding regions, we performed sequencing for 122 such heterozygous patients of either the whole genome (27 patients) or our NGS panel (95 patients) that includes, in addition to all exons of the 21 genes, the introns and flanking sequences of five genes, TYR, OCA2, SLC45A2, GPR143 and HPS1. Rare variants (MAF < 0.01) in trans to the first variant were tested by RT-PCR and/or minigene assay. Of the 14 variants tested, nine caused either exon skipping or the inclusion of a pseudoexon, allowing for the diagnosis of 11 patients. This represents 9.8% (12/122) supplementary diagnosis for formerly unsolved patients and 75% (12/16) of those in whom the candidate variant was in trans to the first variant. Of note, one missense variant was demonstrated to cause skipping of the exon in which it is located, thus shedding new light on its pathogenic mechanism. Searching for non-coding variants and testing them for an effect on RNA splicing is warranted in order to increase the diagnostic rate. [ABSTRACT FROM AUTHOR]
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- 2024
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16. A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum
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Durand, Benjamin, Stoetzel, Corinne, Schaefer, Elise, Calmels, Nadège, Scheidecker, Sophie, Kempf, Nadine, De Melo, Charlie, Guilbert, Anne-Sophie, Timbolschi, Dana, Donato, Leonardo, Astruc, Dominique, Sauer, Arnaud, Antal, Maria Cristina, Dollfus, Hélène, and El Chehadeh, Salima
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- 2020
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17. IMPROVE 2022 International Meeting on Pathway‐Related Obesity: Vision of Excellence
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Kühnen, Peter, primary, Argente, Jesús, additional, Clément, Karine, additional, Dollfus, Hélène, additional, Dubern, Béatrice, additional, Farooqi, Sadaf, additional, de Groot, Corjan, additional, Grüters, Annette, additional, Holm, Jens‐Christian, additional, Hopkins, Mark, additional, Kleinendorst, Lotte, additional, Körner, Antje, additional, Meeker, David, additional, Rydén, Mikael, additional, von Schnurbein, Julia, additional, Tschöp, Matthias, additional, Yeo, Giles S. H., additional, Zorn, Stefanie, additional, and Wabitsch, Martin, additional
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- 2024
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18. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
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Margot, Henri, Boursier, Guilaine, Duflos, Claire, Sanchez, Elodie, Amiel, Jeanne, Andrau, Jean-Christophe, Arpin, Stéphanie, Brischoux-Boucher, Elise, Boute, Odile, Burglen, Lydie, Caille, Charlotte, Capri, Yline, Collignon, Patrick, Conrad, Solène, Cormier-Daire, Valérie, Delplancq, Geoffroy, Dieterich, Klaus, Dollfus, Hélène, Fradin, Mélanie, Faivre, Laurence, Fernandes, Helder, Francannet, Christine, Gatinois, Vincent, Gerard, Marion, Goldenberg, Alice, Ghoumid, Jamal, Grotto, Sarah, Guerrot, Anne-Marie, Guichet, Agnès, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Khau Van Kien, Philippe, Legendre, Marine, Le Quan Sang, K.H., Leheup, Bruno, Lyonnet, Stanislas, Magry, Virginie, Manouvrier, Sylvie, Martin, Dominique, Morel, Godelieve, Munnich, Arnold, Naudion, Sophie, Odent, Sylvie, Perrin, Laurence, Petit, Florence, Philip, Nicole, Rio, Marlène, Robbe, Julie, Rossi, Massimiliano, Sarrazin, Elisabeth, Toutain, Annick, Van Gils, Julien, Vera, Gabriella, Verloes, Alain, Weber, Sacha, Whalen, Sandra, Sanlaville, Damien, Lacombe, Didier, Aladjidi, Nathalie, and Geneviève, David
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- 2020
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19. IMPROVE 2022 International Meeting on Pathway-Related Obesity:Vision of Excellence
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Kühnen, Peter, Argente, Jesús, Clément, Karine, Dollfus, Hélène, Dubern, Béatrice, Farooqi, Sadaf, de Groot, Corjan, Grüters, Annette, Holm, Jens Christian, Hopkins, Mark, Kleinendorst, Lotte, Körner, Antje, Meeker, David, Rydén, Mikael, von Schnurbein, Julia, Tschöp, Matthias, Yeo, Giles S.H., Zorn, Stefanie, Wabitsch, Martin, Kühnen, Peter, Argente, Jesús, Clément, Karine, Dollfus, Hélène, Dubern, Béatrice, Farooqi, Sadaf, de Groot, Corjan, Grüters, Annette, Holm, Jens Christian, Hopkins, Mark, Kleinendorst, Lotte, Körner, Antje, Meeker, David, Rydén, Mikael, von Schnurbein, Julia, Tschöp, Matthias, Yeo, Giles S.H., Zorn, Stefanie, and Wabitsch, Martin
- Abstract
Nearly 90 clinicians and researchers from around the world attended the first IMPROVE 2022 International Meeting on Pathway-Related Obesity. Delegates attended in person or online from across Europe, Argentina and Israel to hear the latest scientific and clinical developments in hyperphagia and severe, early-onset obesity, and set out a vision of excellence for the future for improving the diagnosis, treatment, and care of patients with melanocortin-4 receptor (MC4R) pathway-related obesity. The meeting co-chair Peter Kühnen, Charité Universitätsmedizin Berlin, Germany, indicated that change was needed with the rapidly increasing prevalence of obesity and the associated complications to improve the understanding of the underlying mechanisms and acknowledge that monogenic forms of obesity can play an important role, providing insights that can be applied to a wider group of patients with obesity. World-leading experts presented the latest research and led discussions on the underlying science of obesity, diagnosis (including clinical and genetic approaches such as the role of defective MC4R signalling), and emerging clinical data and research with targeted pharmacological approaches. The aim of the meeting was to agree on the questions that needed to be addressed in future research and to ensure that optimised diagnostic work-up was used with new genetic testing tools becoming available. This should aid the planning of new evidence-based treatment strategies for the future, as explained by co-chair Martin Wabitsch, Ulm University Medical Center, Germany.
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- 2024
20. Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy
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Kousi, Maria, Söylemez, Onuralp, Ozanturk, Aysegül, Mourtzi, Niki, Akle, Sebastian, Jungreis, Irwin, Muller, Jean, Cassa, Christopher A., Brand, Harrison, Mokry, Jill Anne, Wolf, Maxim Y., Sadeghpour, Azita, McFadden, Kelsey, Lewis, Richard A., Talkowski, Michael E., Dollfus, Hélène, Kellis, Manolis, Davis, Erica E., Sunyaev, Shamil R., and Katsanis, Nicholas
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- 2020
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21. Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing
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Barny, Iris, Perrault, Isabelle, Rio, Marlène, Dollfus, Hélène, Defoort-Dhellemmes, Sabine, Kaplan, Josseline, Rozet, Jean-Michel, Gerard, Xavier, Crusio, Wim E., Series Editor, Lambris, John D., Series Editor, Radeke, Heinfried H., Series Editor, Rezaei, Nima, Series Editor, Bowes Rickman, Catherine, editor, Grimm, Christian, editor, Anderson, Robert E., editor, Ash, John D., editor, LaVail, Matthew M., editor, and Hollyfield, Joe G., editor
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- 2019
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22. Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy
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Scheidecker, Sophie, Etard, Christelle, Haren, Laurence, Stoetzel, Corinne, Hull, Sarah, Arno, Gavin, Plagnol, Vincent, Drunat, Séverine, Passemard, Sandrine, Toutain, Annick, Obringer, Cathy, Koob, Mériam, Geoffroy, Véronique, Marion, Vincent, Strähle, Uwe, Ostergaard, Pia, Verloes, Alain, Merdes, Andreas, Moore, Anthony T, and Dollfus, Hélène
- Subjects
Intellectual and Developmental Disabilities (IDD) ,Congenital Structural Anomalies ,Rare Diseases ,Brain Disorders ,Neurosciences ,Genetics ,Clinical Research ,Eye Disease and Disorders of Vision ,Pediatric ,2.1 Biological and endogenous factors ,Aetiology ,Eye ,Base Sequence ,Choroid Diseases ,Exome ,Eye Diseases ,Hereditary ,Frameshift Mutation ,France ,Gene Components ,Humans ,Microcephaly ,Microtubule-Associated Proteins ,Microtubules ,Molecular Sequence Data ,Pedigree ,Retinal Diseases ,Sequence Analysis ,DNA ,Tubulin ,Biological Sciences ,Medical and Health Sciences ,Genetics & Heredity - Abstract
We have identified TUBGCP4 variants in individuals with autosomal-recessive microcephaly and chorioretinopathy. Whole-exome sequencing performed on one family with two affected siblings and independently on another family with one affected child revealed compound-heterozygous mutations in TUBGCP4. Subsequent Sanger sequencing was performed on a panel of individuals from 12 French families affected by microcephaly and ophthalmic manifestations, and one other individual was identified with compound-heterozygous mutations in TUBGCP4. One synonymous variant was common to all three families and was shown to induce exon skipping; the other mutations were frameshift mutations and a deletion. TUBGCP4 encodes γ-tubulin complex protein 4, a component belonging to the γ-tubulin ring complex (γ-TuRC) and known to regulate the nucleation and organization of microtubules. Functional analysis of individual fibroblasts disclosed reduced levels of the γ-TuRC, altered nucleation and organization of microtubules, abnormal nuclear shape, and aneuploidy. Moreover, zebrafish treated with morpholinos against tubgcp4 were found to have reduced head volume and eye developmental anomalies with chorioretinal dysplasia. In summary, the identification of TUBGCP4 mutations in individuals with microcephaly and a spectrum of anomalies in eye development, particularly photoreceptor anomalies, provides evidence of an important role for the γ-TuRC in brain and eye development.
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- 2015
23. Characterization of SSBP1-related optic atrophy and foveopathy
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Meunier, Isabelle, Bocquet, Béatrice, Defoort-Dhellemmes, Sabine, Smirnov, Vasily, Arndt, Carl, Picot, Marie Christine, Dollfus, Hélène, Charif, Majida, Audo, Isabelle, Huguet, Hélèna, Zanlonghi, Xavier, and Lenaers, Guy
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- 2021
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24. Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
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Gabrielle, Pierre-Henry, Faivre, Laurence, Audo, Isabelle, Zanlonghi, Xavier, Dollfus, Hélène, Thiadens, Alberta A. H. J., Zeitz, Christina, Mancini, Grazia M. S., Perdomo, Yaumara, Mohand-Saïd, Saddek, Lizé, Eléonore, Lhussiez, Vincent, Nandrot, Emeline F., Acar, Niyazi, Creuzot-Garcher, Catherine, Sahel, José-Alain, Ansar, Muhammad, Thauvin-Robinet, Christel, Duplomb, Laurence, and Da Costa, Romain
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- 2021
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25. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
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Balak, Chris, Benard, Marianne, Schaefer, Elise, Iqbal, Sumaiya, Ramsey, Keri, Ernoult-Lange, Michèle, Mattioli, Francesca, Llaci, Lorida, Geoffroy, Véronique, Courel, Maité, Naymik, Marcus, Bachman, Kristine K., Pfundt, Rolph, Rump, Patrick, ter Beest, Johanna, Wentzensen, Ingrid M., Monaghan, Kristin G., McWalter, Kirsty, Richholt, Ryan, Le Béchec, Antony, Jepsen, Wayne, De Both, Matt, Belnap, Newell, Boland, Anne, Piras, Ignazio S., Deleuze, Jean-François, Szelinger, Szabolcs, Dollfus, Hélène, Chelly, Jamel, Muller, Jean, Campbell, Arthur, Lal, Dennis, Rangasamy, Sampathkumar, Mandel, Jean-Louis, Narayanan, Vinodh, Huentelman, Matt, Weil, Dominique, and Piton, Amélie
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- 2019
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26. In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies
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Brun, Agnès, Yu, Xiangxiang, Obringer, Cathy, Ajoy, Daniel, Haser, Elodie, Stoetzel, Corinne, Roux, Michel J., Messaddeq, Nadia, Dollfus, Hélène, and Marion, Vincent
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- 2019
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27. Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
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Scheidecker, Sophie, Etard, Christelle, Pierce, Nathan W, Geoffroy, Véronique, Schaefer, Elise, Muller, Jean, Chennen, Kirsley, Flori, Elisabeth, Pelletier, Valérie, Poch, Olivier, Marion, Vincent, Stoetzel, Corinne, Strähle, Uwe, Nachury, Maxence V, and Dollfus, Hélène
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Biological Sciences ,Bioinformatics and Computational Biology ,Biomedical and Clinical Sciences ,Genetics ,Rare Diseases ,Clinical Research ,Congenital Structural Anomalies ,Neurodegenerative ,Intellectual and Developmental Disabilities (IDD) ,Pediatric ,Brain Disorders ,2.1 Biological and endogenous factors ,Aetiology ,Animals ,Bardet-Biedl Syndrome ,Base Sequence ,Carrier Proteins ,Codon ,Nonsense ,Consanguinity ,DNA Mutational Analysis ,Exome ,Fibroblasts ,Genetic Association Studies ,Genetic Linkage ,HEK293 Cells ,Humans ,Male ,Middle Aged ,Molecular Sequence Annotation ,Pedigree ,Phenotype ,Polymorphism ,Single Nucleotide ,Zebrafish ,Clinical Genetics ,Diagnostics Tests ,Genetic Screening ,Counselling ,Molecular Genetics ,Ophthalmology ,Genetic Screening/Counselling ,Medical and Health Sciences ,Genetics & Heredity ,Clinical sciences - Abstract
BackgroundBardet-Biedl syndrome (BBS) is a recessive and genetically heterogeneous ciliopathy characterised by retinitis pigmentosa, obesity, kidney dysfunction, postaxial polydactyly, behavioural dysfunction and hypogonadism. 7 of the 17 BBS gene products identified to date assemble together with the protein BBIP1/BBIP10 into the BBSome, a protein complex that ferries signalling receptors to and from cilia.Methods and resultsExome sequencing performed on a sporadic BBS case revealed for the first time a homozygous stop mutation (NM_001195306: c.173T>G, p.Leu58*) in the BBIP1 gene. This mutation is pathogenic since no BBIP1 protein could be detected in fibroblasts from the patient, and BBIP1[Leu58*] is unable to associate with the BBSome subunit BBS4.ConclusionsThese findings identify BBIP1 as the 18th BBS gene (BBS18) and suggest that BBSome assembly may represent a unifying pathomechanism for BBS.
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- 2014
28. Response to comment on: Could internal limiting membrane peeling before Voretigen Neparvovec-ryzl subretinal injection prevent focal chorioretinal atrophy?
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Dormegny, Lea, Studer, Fouzia, Sauer, Arnaud, Ballonzoli, Laurent, Speeg-Schatz, Claude, Bourcier, Tristan, Dollfus, Helene, and Gaucher, David
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- 2024
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29. Hydroxychloroquine hitting the headlines—retinal considerations
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Downes, Susan M., Leroy, Bart P., Sharma, Srilakshmi M., Sivaprasad, Sobha, and Dollfus, Hélène
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- 2020
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30. Adapted Surgical Procedure for Argus II Retinal Implantation: Feasibility, Safety, Efficiency, and Postoperative Anatomic Findings
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Delyfer, Marie-Noëlle, Gaucher, David, Govare, Marc, Cougnard-Grégoire, Audrey, Korobelnik, Jean-François, Ajana, Soufiane, Mohand-Saïd, Saddek, Ayello-Scheer, Sarah, Rezaiguia-Studer, Fouzia, Dollfus, Hélène, Sahel, José-Alain, and Barale, Pierre-Olivier
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- 2018
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31. Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey
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Mancuso, Michelangelo, primary, Lopriore, Piervito, additional, Lamperti, Costanza, additional, Klopstock, Thomas, additional, Rahman, Shamima, additional, Licchetta, Laura, additional, Kornblum, Cornelia, additional, Wortmann, Saskia B., additional, Dollfus, Hélène, additional, Papadopoulou, Maria T., additional, Arzimanoglou, Alexis, additional, Scarpa, Maurizio, additional, Graessner, Holm, additional, and Evangelista, Teresinha, additional
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- 2023
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32. The Use of Dog Guides for Orientation and Mobility by Individuals With the Argus II Retinal Prosthesis: A Case Series
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Flourence, Marine, primary, Merlini, Francesco, additional, Leffel, Ana, additional, Fossati, Marco, additional, Meddouri, Sophia, additional, Carbone, Valentina, additional, Benninghofen, Matthias, additional, Studer, Fouzia, additional, Dollfus, Hélène, additional, Gaucher, David, additional, Kirchhof, Bernd, additional, Mura, Marco, additional, and Fisher, Andy, additional
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- 2023
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33. Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy
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Gouronc, Aurélie, primary, Javey, Elodie, additional, Leuvrey, Anne-Sophie, additional, Nourisson, Elsa, additional, Friedmann, Sylvie, additional, Reichert, Valérie, additional, Derive, Nicolas, additional, Francannet, Christine, additional, Keren, Boris, additional, Lévy, Jonathan, additional, Planes, Marc, additional, Ruaud, Lyse, additional, Amiel, Jeanne, additional, Dollfus, Hélène, additional, Scheidecker, Sophie, additional, and Muller, Jean, additional
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- 2023
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34. Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis
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Aktas, Orhan, Albrecht, Philipp, Ashworth, Jane, Asgari, Nasrin, Balcer, Laura, Balk, Lisanne, Black, Graeme, Boehringer, Daniel, Behbehani, Raed, Benson, Leslie, Bermel, Robert, Bernard, Jacqueline, Brandt, Alexander, Burton, Jodie, Calabresi, Peter, Calkwood, Jonathan, Cordano, Christian, Costello, Fiona, Courtney, Ardith, Cruz-Herranz, Andrés, Diem, Ricarda, Daly, Avril, Dollfus, Helene, Fasser, Christina, Finke, Carsten, Frederiksen, Jette, Frohman, Elliot, Frohman, Teresa, Garcia-Martin, Elenaw, Suárez, Inés González, Pihl-Jensen, Gorm, Graves, Jennifer, Green, Ari, Havla, Joachim, Hemmer, Bernhard, Huang, Su-Chun, Imitola, Jaime, Jiang, Hong, Keegan, David, Kildebeck, Eric, Klistorner, Alexander, Knier, Benjamin, Kolbe, Scott, Korn, Thomas, LeRoy, Bart, Leocani, Letizia, Leroux, Dorothee, Levin, Netta, Liskova, Petra, Lorenz, Birgit, Preiningerova, Jana Lizrova, Martínez-Lapiscina, Elena Hernández, Mikolajczak, Janine, Montalban, Xavier, Morrow, Mark, Nolan, Rachel, Oberwahrenbrock, Timm, Oertel, Frederike Cosima, Oreja-Guevara, Celia, Osborne, Benjamin, Outteryck, Olivier, Papadopoulou, Athina, Paul, Friedemann, Petzold, Axel, Ringelstein, Marius, Saidha, Shiv, Sanchez-Dalmau, Bernardo, Sastre-Garriga, Jaume, Schippling, Sven, Shin, Robert, Shuey, Neil, Soelberg, Kerstin, Toosy, Ahmed, Torres, Rubén, Vidal-Jordana, Angela, Villoslada, Pablo, Waldman, Amy, White, Owen, Yeh, Ann, Wong, Sui, Zimmermann, Hanna, Balcer, Laura J, Calabresi, Peter A, Frohman, Teresa C, Frohman, Elliot M, Martinez-Lapiscina, Elena H, Green, Ari J, Kardon, Randy, Vermersch, Patrik, and Balk, Lisanne J
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- 2017
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35. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development
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Ivanova, Ekaterina L., Mau-Them, Frédéric Tran, Riazuddin, Saima, Kahrizi, Kimia, Laugel, Vincent, Schaefer, Elise, de Saint Martin, Anne, Runge, Karen, Iqbal, Zafar, Spitz, Marie-Aude, Laura, Mary, Drouot, Nathalie, Gérard, Bénédicte, Deleuze, Jean-François, de Brouwer, Arjan P.M., Razzaq, Attia, Dollfus, Hélène, Assir, Muhammad Zaman, Nitchké, Patrick, Hinckelmann, Maria-Victoria, Ropers, Hilger, Riazuddin, Sheikh, Najmabadi, Hossein, van Bokhoven, Hans, and Chelly, Jamel
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- 2017
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36. Consensus clinical management guidelines for Alström syndrome
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Tahani, Natascia, Maffei, Pietro, Dollfus, Hélène, Paisey, Richard, Valverde, Diana, Milan, Gabriella, Han, Joan C., Favaretto, Francesca, Madathil, Shyam C., Dawson, Charlotte, Armstrong, Matthew J., Warfield, Adrian T., Düzenli, Selma, Francomano, Clair A., Gunay-Aygun, Meral, Dassie, Francesca, Marion, Vincent, Valenti, Marina, Leeson-Beevers, Kerry, Chivers, Ann, Steeds, Richard, Barrett, Timothy, and Geberhiwot, Tarekegn
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- 2020
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37. Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
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Kröll‐Hermi, Ariane, Ebstein, Frédéric, Stoetzel, Corinne, Geoffroy, Véronique, Schaefer, Elise, Scheidecker, Sophie, Bär, Séverine, Takamiya, Masanari, Kawakami, Koichi, Zieba, Barbara A, Studer, Fouzia, Pelletier, Valerie, Eyermann, Carine, Speeg‐Schatz, Claude, Laugel, Vincent, Lipsker, Dan, Sandron, Florian, McGinn, Steven, Boland, Anne, Deleuze, Jean‐François, Kuhn, Lauriane, Chicher, Johana, Hammann, Philippe, Friant, Sylvie, Etard, Christelle, Krüger, Elke, Muller, Jean, Strähle, Uwe, and Dollfus, Hélène
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- 2020
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38. Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome
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Schalk, Audrey, Greff, Géraldine, Drouot, Nathalie, Obringer, Cathy, Dollfus, Hélène, Laugel, Vincent, Chelly, Jamel, and Calmels, Nadège
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- 2018
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39. Neuropathy target esterase activity predicts retinopathy amongPNPLA6disorders
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Liu, James, primary, He, Yi, additional, Lwin, Cara, additional, Han, Marina, additional, Guan, Bin, additional, Naik, Amelia, additional, Bender, Chelsea, additional, Moore, Nia, additional, Huryn, Laryssa A., additional, Sergeev, Yuri, additional, Qian, Haohua, additional, Zeng, Yong, additional, Dong, Lijin, additional, Liu, Pinghu, additional, Lei, Jingqi, additional, Haugen, Carl J., additional, Prasov, Lev, additional, Shi, Ruifang, additional, Dollfus, Hélène, additional, Aristodemou, Petros, additional, Laich, Yannik, additional, Németh, Andrea H., additional, Taylor, John, additional, Downes, Susan, additional, Krawczynski, Maciej, additional, Meunier, Isabelle, additional, Strassberg, Melissa, additional, Tenney, Jessica, additional, Gao, Josephine, additional, Shear, Matthew A., additional, Moore, Anthony T., additional, Duncan, Jacque L., additional, Menendez, Beatriz, additional, Hull, Sarah, additional, Vincent, Andrea, additional, Siskind, Carly E., additional, Traboulsi, Elias I., additional, Blackstone, Craig, additional, Sisk, Robert, additional, Utz, Virginia, additional, Webster, Andrew R., additional, Michaelides, Michel, additional, Arno, Gavin, additional, Synofzik, Matthis, additional, and Hufnagel, Robert B, additional
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- 2023
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40. WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects
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Karam, Adella, primary, Delvallée, Clarisse, additional, Estrada-Cuzcano, Alejandro, additional, Geoffroy, Véronique, additional, Lamouche, Jean-Baptiste, additional, Leuvrey, Anne-Sophie, additional, Nourisson, Elsa, additional, Tarabeux, Julien, additional, Stoetzel, Corinne, additional, Scheidecker, Sophie, additional, Porter, Louise Frances, additional, Génin, Emmanuelle, additional, Redon, Richard, additional, Sandron, Florian, additional, Boland, Anne, additional, Deleuze, Jean-François, additional, Le May, Nicolas, additional, Dollfus, Hélène, additional, and Muller, Jean, additional
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- 2023
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41. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
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Petzold, Friederike, primary, Billot, Katy, additional, Chen, Xiaoyi, additional, Henry, Charline, additional, Filhol, Emilie, additional, Martin, Yoann, additional, Avramescu, Marina, additional, Douillet, Maxime, additional, Morinière, Vincent, additional, Krug, Pauline, additional, Jeanpierre, Cécile, additional, Tory, Kalman, additional, Boyer, Olivia, additional, Burgun, Anita, additional, Servais, Aude, additional, Salomon, Remi, additional, Benmerah, Alexandre, additional, Heidet, Laurence, additional, Garcelon, Nicolas, additional, Antignac, Corinne, additional, Zaidan, Mohamad, additional, Saunier, Sophie, additional, Attié-Bitach, Tania, additional, Comier-Daire, Valerie, additional, Rozet, Jean-Michel, additional, Frishberg, Yaacov, additional, Llanas, Brigitte, additional, Broyer, Michel, additional, Mohsin, Nabil, additional, Macher, Marie-Alice, additional, Philip, Nicole, additional, Baudouin, Véronique, additional, Brackman, Damian, additional, Loirat, Chantal, additional, Charbit, Marina, additional, Dehennault, Maud, additional, Guyot, Claude, additional, Bataille, Pierre, additional, Elting, Mariet, additional, Deschenes, Georges, additional, Gropman, Andrea, additional, Guest, Geneviève, additional, Gagnadoux, Marie-France, additional, Nicoud, Philippe, additional, Cochat, Pierre, additional, Ranchin, Bruno, additional, Bensman, Albert, additional, Guerrot, Anne-Marie, additional, Knebelmann, Bertrand, additional, Bilge, Ilmay, additional, Bruno, Danièle, additional, Burtey, Stéphane, additional, Rouvière, Caroline Rousset, additional, Caudwell, Valérie, additional, Morin, Denis, additional, Dollfus, Hélène, additional, Maisin, Anne, additional, Hamel, Christian, additional, Bieth, Eric, additional, Gie, Sophie, additional, Goodship, Judith, additional, Roussey, Gwenaelle, additional, La Selve, Hermine, additional, Nivet, Hubert, additional, Bessenay, Lucie, additional, Caillez, Mathilde, additional, Palcoux, Jean Bernard, additional, Benoît, Stéphane, additional, Dubot, Philippe, additional, Fila, Marc, additional, Giuliano, Fabienne, additional, Iftene, Daouya, additional, Kessler, Michele, additional, Kwon, Theresa, additional, Lahoche, Anine, additional, Laurent, Audrey, additional, Leclerc, Anne-Laure, additional, Milford, David, additional, Neuhaus, Thomas, additional, Odent, Sylvie, additional, Eckart, Philippe, additional, Chauveau, Dominique, additional, Niaudet, Patrick, additional, Repetto, Horacio, additional, Taque, Sophie, additional, Bruel, Alexandra, additional, Noel-Botte, Alexandra, additional, Launay, Emma Allain, additional, Allard, Lisa, additional, Anlicheau, Dany, additional, Adra, Anne-Laure, additional, Garnier, Arnaud, additional, Nagra, Arvind, additional, Baatard, Remy, additional, Bacchetta, Justine, additional, Sadikoglu, Banu, additional, Barnerias, Christine, additional, Barthelemy, Anne, additional, Basel, Lina, additional, Bassilios, Nader, additional, Ben Maiz, Hedi, additional, Ben Moussa, Fatma, additional, Benmati, Faïza, additional, Berthaud, Romain, additional, Bertholet, Aurélia, additional, Blanchier, Dominique, additional, Boffa, Jean Jacques, additional, Bouchireb, Karim, additional, Bouhabel, Ihab, additional, Boukerroucha, Zakaria, additional, Bourdat-Michel, Guylhène, additional, Boute, Odile, additional, Brochard, Karine, additional, Caumes, Roseline, additional, Elalaoui, Siham Chafai, additional, Chamontin, Bernard, additional, Chastang, Marie Caroline, additional, Pietrement, Christine, additional, Richer, Christine, additional, Legendre, Christophe, additional, Dahan, Karin, additional, Dalla-Vale, Fabienne, additional, Thibaudin, Damien, additional, Dauvergne, Maxime, additional, Davourie, Salandre, additional, Debeukelaer, Martin, additional, Delbet, Jean Daniel, additional, Deltas, Constantinos, additional, Graber, Denis, additional, Devillars, Nadège, additional, Diouf, Boucar, additional, Fenzy, Martine Doco, additional, André, Jean-Luc, additional, Joly, Dominique, additional, Fryer, Alan, additional, Albano, Laetitia, additional, Cassuto, Elisabeth, additional, Pincon, Aline, additional, Medeira, Ana, additional, Chaussenot, Annabelle, additional, Mensire-Marinier, Anne, additional, Bouissou, Francois, additional, Decramer, Stephane, additional, Bottani, Armand, additional, Hummel, Aurélie, additional, Karras, Alexandre, additional, Katz, Avi, additional, Azema, Christine, additional, Janbon, Bénédicte, additional, Roussel, Bernard, additional, Bonniol, Claude, additional, Mariat, Christiophe, additional, Champion, Gérard, additional, Chantreuil, Deborah, additional, Chassaing, Nicolas, additional, Mousson, Christiane, additional, Baudeau, Christine, additional, Cuntz, Delphine Hafdar, additional, Mignot, Cyril, additional, Dehoux, Laurene, additional, Lacombe, Didier, additional, Hannedouche, Thierry, additional, Mérieau, Elodie, additional, Charlin, Emmanuelle, additional, Gauthier, Eric, additional, Plasse, Florent, additional, Faguer, Stanislas, additional, Lebas, Fanny, additional, Demurger, Florence, additional, Emma, Francesco, additional, Cartault, François, additional, Dumont, Geneviève, additional, Godefroid, Nathalie, additional, Guigonis, Vincent, additional, Hillaire, Sophie, additional, Groothoff, Jaap, additional, Dudley, Jan, additional, Jourde-Chiche, Noémie, additional, El Karoui, Khalil, additional, Krid, Saoussen, additional, Coudert, Krier, additional, Bencheick, Larbi, additional, Yver, Laurent, additional, Lavocat, Marie-Pierre, additional, De Sagazan, Le Monies, additional, Leroy, Valerie, additional, Thibaudin, Lise, additional, Ingulli, Liz, additional, Gwanmesia, Lorraine, additional, Burglen, Lydie, additional, Saïd-Menthon, Marie-Hélène, additional, Carrera, Marta, additional, Nizon, Mathilde, additional, Melander, Catherine, additional, Foulard, Michel, additional, Blayo, Monique, additional, Prinseau, Jacques, additional, Jay, Nadine, additional, Brun, Nathalie, additional, Camille, Nicolas, additional, Nobili, François, additional, Devuyst, Olivier, additional, Ben Brahim, Ouafa, additional, Parvex, Paloma, additional, Sabourin, Laurence Perrin, additional, Blanc, Philippe, additional, Vanhille, Philippe, additional, Galichon, Pierre, additional, Pierrepont, Sophie, additional, Planquois, Vincent, additional, Poussard, Gwenaelle, additional, Noble, Claire Pouteil, additional, Allal, Radia, additional, Bernard, Raphaelle, additional, Mounet, Raynaud, additional, Cahen, Rémi, additional, Touraine, Renaud, additional, Rigothier, Claire, additional, Ryckewaert, Amélie, additional, Sacquepee, Mathieu, additional, El Chehadeh, Salima, additional, Samaille, Charlotte, additional, Haq, Shuman, additional, Simckes, Ari, additional, Lanoiselée, Stéphanie, additional, Tellier, Stephanie, additional, Subra, Jean-François, additional, Cloarec, Sylvie, additional, Tenenbam, Julie, additional, Lamy, Thomas, additional, Drouin Garraud, Valérie, additional, Valette, Huguette, additional, Meyssonnier, Vanina, additional, Vargas-Poussou, Rosa, additional, Snajer, Yves, additional, Durault, Sandrine, additional, Plaisier, Emmanuelle, additional, Berard, Etienne, additional, Fakhouri, Fadi, additional, Louillet, Ferielle, additional, Finielz, Paul, additional, Fischbach, Michel, additional, Foliguet, Bernard, additional, Francois-Pradier, Hélène, additional, Garaix, Florentine, additional, Gerard, Marion, additional, Rizzoni, Gianfranco, additional, Gilbert, Brigitte, additional, Glotz, Denis, additional, Dubrasquet, Astrid Godron, additional, Grünfeld, Jean-Pierre, additional, Bollee, Guillaume, additional, Hall, Michelle, additional, Hansson, Sverker, additional, Haye, Damien, additional, Taffin, Hélène, additional, Hildebrandt, Friedhelm, additional, Hourmand, Maryvonne, additional, Kayserili, Hümya, additional, Tack, Ivan, additional, Jacquemont, Marie Line, additional, Fabre-Teste, Jennifer, additional, Kashtan, Cliff, additional, Van Hoeck, Kkoen, additional, Klein, Alexandre, additional, Knefati, Yannick, additional, Knoers, Nine, additional, Konrad, Martin, additional, Lachaux, Alain, additional, Landru, Isabelle, additional, Landthaler, Gilbert, additional, Lang, Philippe, additional, Le Pogamp, Patrick, additional, Legris, Tristan, additional, Didailler, Catherine, additional, Lobbedez, Thierry, additional, de Parscau, Loïc, additional, Pinson, Lucile, additional, Maheut, Hervé, additional, Duval-Arnould, Marc, additional, Rio, Marlène, additional, Gubler, Marie-Claire, additional, Merville, Pierre, additional, Mestrallet, Guillaume, additional, Meunier, Maite, additional, Moreau, Karine, additional, Harambat, Jérôme, additional, Morgan, Graeme, additional, Mourad, Georges, additional, Stuber, Niksic, additional, Boespflug-Tanguy, Odile, additional, Dunand, Olivier, additional, Niel, Olivier, additional, Ouali, Nacera, additional, Malvezzi, Paolo, additional, Abou Jaoude, Pauline, additional, Pelletier, Solenne, additional, Peltier, Julie, additional, Petersen, M.B., additional, Michel, Philippe, additional, Rémy, Philippe, additional, Philit, Jean-Baptiste, additional, Pichault, Valérie, additional, Billette de Villemeur, Thierry, additional, Boudailliez, Bernard, additional, Leheup, Bruno, additional, Dossier, Claire, additional, Djeddi, Djamal-Dine, additional, Berland, Yves, additional, Hurault de Ligny, Bruno, additional, Rigden, Susan, additional, Robino, Christophe, additional, Rossi, Annick, additional, Sarnacki, Sabine, additional, Saidani, Messaoud, additional, Sartorius, Albane Brodin, additional, Schäfer, Elise, additional, Laszlo, Sztriha, additional, Thouret, Marie-Christine, additional, Thuillier-Lecouf, Angélique, additional, Trachtman, Howard, additional, Trivin, Claire, additional, Tsimaratos, Michel, additional, Van Damme-Lombaerts, Rita, additional, Willems, Marjolaine, additional, Youssef, Michel, additional, Zaloszyc, Ariane, additional, Zawodnik, Alexis, additional, and Ziliotis, Marie-Julia, additional
- Published
- 2023
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42. Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders
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Liu, James, He, Yi, Lwin, Cara, Han, Marina, Guan, Bin, Naik, Amelia, Bender, Chelsea, Moore, Nia, Huryn, Laryssa A., Sergeev, Yuri, Qian, Haohua, Zeng, Yong, Dong, Lijin, Liu, Pinghu, Lei, Jingqi, Haugen, Carl J., Prasov, Lev, Shi, Ruifang, Dollfus, Hélène, Aristodemou, Petros, Laich, Yannik, Németh, Andrea H., Taylor, John, Downes, Susan, Krawczynski, Maciej, Meunier, Isabelle, Strassberg, Melissa, Tenney, Jessica, Gao, Josephine, Shear, Matthew A., Moore, Anthony T., Duncan, Jacque L., Menendez, Beatriz, Hull, Sarah, Vincent, Andrea, Siskind, Carly E., Traboulsi, Elias I., Blackstone, Craig, Sisk, Robert, Utz, Virginia, Webster, Andrew R., Michaelides, Michel, Arno, Gavin, Synofzik, Matthis, and Hufnagel, Robert B
- Subjects
Article - Abstract
Biallelic pathogenic variants in the PNPLA6 gene cause a broad spectrum of disorders leading to gait disturbance, visual impairment, anterior hypopituitarism, and hair anomalies. PNPLA6 encodes Neuropathy target esterase (NTE), yet the role of NTE dysfunction on affected tissues in the large spectrum of associated disease remains unclear. We present a clinical meta-analysis of a novel cohort of 23 new patients along with 95 reported individuals with PNPLA6 variants that implicate missense variants as a driver of disease pathogenesis. Measuring esterase activity of 46 disease-associated and 20 common variants observed across PNPLA6 -associated clinical diagnoses unambiguously reclassified 10 variants as likely pathogenic and 36 variants as pathogenic, establishing a robust functional assay for classifying PNPLA6 variants of unknown significance. Estimating the overall NTE activity of affected individuals revealed a striking inverse relationship between NTE activity and the presence of retinopathy and endocrinopathy. This phenomenon was recaptured in vivo in an allelic mouse series, where a similar NTE threshold for retinopathy exists. Thus, PNPLA6 disorders, previously considered allelic, are a continuous spectrum of pleiotropic phenotypes defined by an NTE genotype:activity:phenotype relationship. This relationship and the generation of a preclinical animal model pave the way for therapeutic trials, using NTE as a biomarker.
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- 2023
43. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients
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Vincent, Marie, Geneviève, David, Ostertag, Agnès, Marlin, Sandrine, Lacombe, Didier, Martin-Coignard, Dominique, Coubes, Christine, David, Albert, Lyonnet, Stanislas, Vilain, Catheline, Dieux-Coeslier, Anne, Manouvrier, Sylvie, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Layet, Valérie, Naudion, Sophie, Odent, Sylvie, Pasquier, Laurent, Pelras, Sybille, Philip, Nicole, Pierquin, Geneviève, Prieur, Fabienne, Aboussair, Nisrine, Attie-Bitach, Tania, Baujat, Geneviève, Blanchet, Patricia, Blanchet, Catherine, Dollfus, Hélène, Doray, Bérénice, Schaefer, Elise, Edery, Patrick, Giuliano, Fabienne, Goldenberg, Alice, Goizet, Cyril, Guichet, Agnès, Herlin, Christian, Lambert, Laetitia, Leheup, Bruno, Martinovic, Jelena, Mercier, Sandra, Mignot, Cyril, Moutard, Marie-Laure, Perez, Marie-José, Pinson, Lucile, Puechberty, Jacques, Willems, Marjolaine, Randrianaivo, Hanitra, Szaskon, Kateline, Toutain, Annick, Verloes, Alain, Vigneron, Jacqueline, Sanchez, Elodie, Sarda, Pierre, Laplanche, Jean-Louis, and Collet, Corinne
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- 2016
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44. Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement
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Rey, Tristan, primary, Tarabeux, Julien, additional, Gerard, Bénédicte, additional, Delbarre, Marion, additional, Le Béchec, Antony, additional, Stoetzel, Corinne, additional, Prasad, Megana, additional, Laugel-Haushalter, Virginie, additional, Kawczynski, Marzena, additional, Muller, Jean, additional, Chelly, Jamel, additional, Dollfus, Hélène, additional, Manière, Marie-Cécile, additional, and Bloch-Zupan, Agnès, additional
- Published
- 2019
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45. Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing
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Barny, Iris, primary, Perrault, Isabelle, additional, Rio, Marlène, additional, Dollfus, Hélène, additional, Defoort-Dhellemmes, Sabine, additional, Kaplan, Josseline, additional, Rozet, Jean-Michel, additional, and Gerard, Xavier, additional
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- 2019
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46. Correction to: An ontological foundation for ocular phenotypes and rare eye diseases
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Sergouniotis, Panagiotis I., Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N., Dollfus, Hélène, and for the ERN-EYE Ontology Study Group
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- 2019
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47. Current management of patients with RPE65 mutation-associated Inherited Retinal Degenerations (RPE65-IRD) in Europe. Results of a 2 years follow-up multinational survey
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Lorenz, Birgit, primary, Tavares, Joana, additional, van den Born, L. Ingeborgh, additional, Marques, João Pedro, additional, Pilotto, Elisabetta, additional, Stingl, Katarina, additional, Charbel Issa, Peter, additional, Leroux, Dorothée, additional, Dollfus, Hélène, additional, and Scholl, Hendrik P.N., additional
- Published
- 2023
- Full Text
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48. Long term follow up of two independent patients with Schinzel–Giedion carrying SETBP1 mutations
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Herenger, Yvan, Stoetzel, Corinne, Schaefer, Elise, Scheidecker, Sophie, Manière, Marie-Cécile, Pelletier, Valérie, Alembik, Yves, Christmann, Dominique, Clavert, Jean-Michel, Terzic, Joelle, Fischbach, Michel, De Saint Martin, Anne, and Dollfus, Hélène
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- 2015
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49. Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome
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Scheidecker, Sophie, Hull, Sarah, Perdomo, Yaumara, Studer, Fouzia, Pelletier, Valérie, Muller, Jean, Stoetzel, Corinne, Schaefer, Elise, Defoort-Dhellemmes, Sabine, Drumare, Isabelle, Holder, Graham E., Hamel, Christian P., Webster, Andrew R., Moore, Anthony T., Puech, Bernard, and Dollfus, Hélène J.
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- 2015
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50. High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features
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Manes, Gaël, Guillaumie, Tremeur, Vos, Werner L., Devos, Aurore, Audo, Isabelle, Zeitz, Christina, Marquette, Virginie, Zanlonghi, Xavier, Defoort-Dhellemmes, Sabine, Puech, Bernard, Said, Saddek Mohand, Sahel, José Alain, Odent, Sylvie, Dollfus, Hélène, Kaplan, Josseline, Dufier, Jean-Louis, Le Meur, Guylène, Weber, Michel, Faivre, Laurence, Cohen, Francine Behar, Béroud, Christophe, Picot, Marie-Christine, Verdier, Coralie, Sénéchal, Audrey, Baudoin, Corinne, Bocquet, Béatrice, Findlay, John B., Meunier, Isabelle, Dhaenens, Claire-Marie, and Hamel, Christian P.
- Published
- 2015
- Full Text
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Catalog
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