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1,043 results on '"de Paepe, Anne"'

2. A clinical scoring system for congenital contractural arachnodactyly

Author

Meerschaut, Ilse, De Coninck, Shana, Steyaert, Wouter, Barnicoat, Angela, Bayat, Allan, Benedicenti, Francesco, Berland, Siren, Blair, Edward M., Breckpot, Jeroen, de Burca, Anna, Destrée, Anne, García-Miñaúr, Sixto, Green, Andrew J., Hanna, Bernadette C., Keymolen, Kathelijn, Koopmans, Marije, Lederer, Damien, Lees, Melissa, Longman, Cheryl, Lynch, Sally Ann, Male, Alison M., McKenzie, Fiona, Migeotte, Isabelle, Mihci, Ercan, Nur, Banu, Petit, Florence, Piard, Juliette, Plasschaert, Frank S., Rauch, Anita, Ribaï, Pascale, Pacheco, Iratxe Salcedo, Stanzial, Franco, Stolte-Dijkstra, Irene, Valenzuela, Irene, Varghese, Vinod, Vasudevan, Pradeep C., Wakeling, Emma, Wallgren-Pettersson, Carina, Coucke, Paul, De Paepe, Anne, De Wolf, Daniël, Symoens, Sofie, and Callewaert, Bert

Published
2020
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4. Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome

Author

Pearson, Gail, Stylianou, Mario, Mahony, Lynn, Sleeper, Lynn, Tennstedt, Sharon, Colan, Steven, Klein, Gloria, Guey, Lin, Wruck, Lisa, Travison, Thomas, Chen, Shan, Gerstenberger, Eric, Olesker, Tanya, Teitel, David F., Newburger, Jane, King, Martha, Dunbar-Masterson, Carolyn, Posa, Andrea, Nang, Quincy, Hass, Cara, Hsu, Daphne, Lai, Wyman, Hellenbrand, William, Printz, Beth, Devereux, Richard, Sherwood, Greysi, Vetter, Victoria, Paridon, Stephen, Gleason, Marie, Mirarchi, Nicole, DiLullo, Sandra, Ejembi, Agbenu, Morgan, Ruth, Benson, D. Woodrow, Border, William, Cnota, James, Heydarian, Haleh, James, Jeanne, Hogan, Kathryn, Bogenschutz, Lois, Benham, Mary Pat, Barnard, Teresa, Anderson, Page A.W., Li, Jennifer S., Wechsler, Stephanie Burns, Cook, Amanda, Sang, Charles, Covitz, Wesley, Sutton, Lori Jo, Crawford, Kari, Roberts, Summer, Palmer, Deborah, Saul, J. Philip, Atz, Andrew, Forbus, Geoffrey, Infinger, Patricia, Choudhury, Aparna, Minich, LuAnn, Williams, Richard, Yetman, Angela, Shearrow, Marian, Robinson, Michelle, Porter, June, McCrindle, Brian, Russell, Jennifer, Colman, Jack, Khaikin, Svetlana, Slater, Nancy, Dietz, Harry C., Ravekes, William J., Rykiel, Mary, Sparks, Elisabeth, MacCarrick, Gretchen, Leadroot, Jennifer, Canter, Charles, Sharkey, Angela, Braverman, Alan, Rainey, Cheryl, Jefferies, John L., Slesnick, Timothy, Martinez, Hugo, Menesses, Andres, Tenende, Tunu, Liang, David, Merkel, Elisabeth, Loeys, Bart, De Backer, Julie, Cobben, Jan Maarten, Sluysmans, Thierry, De Paepe, Anne, Gelb, Bruce, Srivastava, Shubhika, Mendiz-Ramdeen, Tejani, Weismann, Constance, Lawrence, Emily, Chin, Stephanie, Ko, Helen, Le Yau, Jen, Webber, Steven, Drant, Stacey, Luce, Jane, Stiegler, Kevin, Kinnard, Cheryl, Stewart, Cheri, Sommers, Sue, Madison, Carol, Young, Luciana, Domenico, Megan, Waitzman, Kathryn, Lozano, Carla, Baker, Charles, Zielinski, Erin, Velden, Heidi Vander, Overman, Alison, Lewin, Mark, Payne, Amy, Rimoin, David, Pariani, Mitchel, Siegel, Robert, Rafique, Asim, Grossfeld, Paul, Smith, Arlene, McLees-Palinkas, Terri, Colan, Steven D., Tierney, Elif Seda Selamet, Trevey, Shari, Rivera, Marga, Artman, Michael, Austin, Erle, Baldwin, H. Scott, Bernstein, Daniel, Feltes, Timothy, Johnson, Julie, Klitzner, Thomas, Krischer, Jeffrey, Matherne, G. Paul, Zahka, Kenneth G., Kugler, John, Driscoll, David J., Galantowicz, Mark, Hunsberger, Sally A., Knight, Thomas J., Taylor, Holly, Handisides, Jill C., Hollenbeck-Pringle, Danielle, Uzark, Karen, Trachtenberg, Felicia L., Pemberton, Victoria L., Atz, Teresa W., Bradley, Timothy J., Cappella, Elizabeth, De Nobele, Sylvia, Groh, Georgeann Keh-Teng, Hamstra, Michelle S., Korsin, Rosalind, Levine, Jami C., Lindauer, Bergen, Liou, Aimee, Neal, Meghan K. Mac, Markham, Larry W., Morrison, Tonia, Mussatto, Kathleen A., Olson, Aaron K., Pierpont, Mary Ella M., Pyeritz, Reed E., Radojewski, Elizabeth A., Roman, Mary J., Xu, Mingfen, and Lacro, Ronald V.

Published
2019
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5. Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

Author

Gistelinck, Charlotte, Kwon, Ronald Y., Malfait, Fransiska, Symoens, Sofie, Harris, Matthew P., Henke, Katrin, Hawkins, Michael B., Fisher, Shannon, Sips, Patrick, Guillemyn, Brecht, Bek, Jan Willem, Vermassen, Petra, De Saffel, Hanna, Witten, Paul Eckhard, Weis, MaryAnn, De Paepe, Anne, Eyre, David R., Willaert, Andy, and Coucke, Paul J.

Published
2018

8. Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome

Author

Beysen, Diane, De Jaegere, Sarah, Amor, David, Bouchard, Philippe, Christin‐Maitre, Sophie, Fellous, Marc, Touraine, Philippe, Grix, Arthur W, Hennekam, Raoul, Meire, Françoise, Oyen, Nina, Wilson, Louise C, Barel, Dalit, Clayton‐Smith, Jill, de Ravel, Thomy, Decock, Christian, Delbeke, Patricia, Ensenauer, Regina, Ebinger, Friedrich, Gillessen‐Kaesbach, Gabriele, Hendriks, Yvonne, Kimonis, Virginia, Laframboise, Rachel, Laissue, Paul, Leppig, Kathleen, Leroy, Bart P, Miller, David T, Mowat, David, Neumann, Luitgard, Plomp, Astrid, Van Regemorter, Nicole, Wieczorek, Dagmar, Veitia, Reiner A, De Paepe, Anne, and De Baere, Elfride

Subjects
Genetics, Rare Diseases, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Adult, Amino Acid Sequence, Blepharophimosis, Child, Child, Preschool, Codon, Nonsense, DNA Mutational Analysis, Eyelids, Female, Forkhead Box Protein L2, Forkhead Transcription Factors, Frameshift Mutation, Genotype, Humans, Infant, Infant, Newborn, Male, Middle Aged, Molecular Sequence Data, Mutation, Missense, Pedigree, Phenotype, Primary Ovarian Insufficiency, Sequence Alignment, Young Adult, Clinical Sciences, Genetics & Heredity
Abstract

Blepharophimosis syndrome (BPES) is caused by loss-of-function mutations in the single-exon forkhead transcription factor gene FOXL2 and by genomic rearrangements of the FOXL2 locus. Here, we focus on 92 new intragenic FOXL2 mutations, 34 of which are novel. Specifically, we found 10 nonsense mutations (11%), 13 missense mutations (14%), 40 deletions or insertions leading to a frameshift (43%), and 29 in-frame changes (32%), of which 28 (30%) lead to a polyalanine expansion. This study confirms the existence of two previously described mutational hotspots. Moreover, we gained novel insights in genotype-phenotype correlations, emphasizing the need to interpret genotype-phenotype correlations individually and always in the context of further clinical observations.

Published
2008

10. The use of Raman spectroscopy in pharmaceutical analysis

Author

De Paepe, Anne Therese Gustaaf

Subjects
541, Sample rotation, Polymorphs
Abstract

In this thesis, the use of Raman spectroscopy in pharmaceutical analysis is evaluated. Sample rotation in FT-Raman spectroscopy is studied. Sample rotation is particularly important when analysing heat sensitive samples such as polymorphs. By rotating the sample, laser heating by the near infrared laser is reduced. However, modulation and double modulation in the FT-instrument might induce spurious lines into the Raman spectrum. Therefore it is essential that rotational speeds are kept reasonably low. Another reason to rotate samples is to avoid sub sampling. Especially when performing quantitative analysis, this is of major concern. An attempt is made to further develop FT-Raman spectroscopy into a quantitative technique with the aim to make it applicable for analysis of pharmaceutical tablets. A study into FT-Raman intensity reproducibility of both liquids and solids is performed. Subsequently different sets of tablets were prepared and the correlation between concentration and Raman intensity evaluated. In addition, a comparison between internal and external standardisation is made. In another chapter, a study into a local anaesthetic system is performed. Vibrational spectroscopy is used to assess the extent of interactions between the two active ingredients in the formulation. In addition, interactions between the two actives and an aqueous solution of two block copolymers, in which they are present, are evaluated. On increasing the temperature, this aqueous solution of block copolymers goes into the gel state. Therefore a start into the study of conformation changes of the aqueous solution of block copolymers alone and combined with the two active components is made. A last chapter deals with the polymorphism of sulfathiazole. Sulfathiazole, an antibacterial agent, can exist in five different polymorphic forms. Polymorph I is thought to display unusual large anisotropic lattice expansion. This phenomenon is studied by vibrational spectroscopy and an attempt is made to correlate the NH stretching frequencies with the available X-ray data.

Published
2001

12. Supplementary Table 1 from Meta-analysis of Neuroblastomas Reveals a Skewed ALK Mutation Spectrum in Tumors with MYCN Amplification

Author

De Brouwer, Sara, primary, De Preter, Katleen, primary, Kumps, Candy, primary, Zabrocki, Piotr, primary, Porcu, Michaël, primary, Westerhout, Ellen M., primary, Lakeman, Arjan, primary, Vandesompele, Jo, primary, Hoebeeck, Jasmien, primary, Van Maerken, Tom, primary, De Paepe, Anne, primary, Laureys, Geneviève, primary, Schulte, Johannes H., primary, Schramm, Alexander, primary, Van Den Broecke, Caroline, primary, Vermeulen, Joëlle, primary, Van Roy, Nadine, primary, Beiske, Klaus, primary, Renard, Marleen, primary, Noguera, Rosa, primary, Delattre, Olivier, primary, Janoueix-Lerosey, Isabelle, primary, Kogner, Per, primary, Martinsson, Tommy, primary, Nakagawara, Akira, primary, Ohira, Miki, primary, Caron, Huib, primary, Eggert, Angelika, primary, Cools, Jan, primary, Versteeg, Rogier, primary, and Speleman, Frank, primary

Published
2023
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13. Supplementary Table 2 from Meta-analysis of Neuroblastomas Reveals a Skewed ALK Mutation Spectrum in Tumors with MYCN Amplification

Author

De Brouwer, Sara, primary, De Preter, Katleen, primary, Kumps, Candy, primary, Zabrocki, Piotr, primary, Porcu, Michaël, primary, Westerhout, Ellen M., primary, Lakeman, Arjan, primary, Vandesompele, Jo, primary, Hoebeeck, Jasmien, primary, Van Maerken, Tom, primary, De Paepe, Anne, primary, Laureys, Geneviève, primary, Schulte, Johannes H., primary, Schramm, Alexander, primary, Van Den Broecke, Caroline, primary, Vermeulen, Joëlle, primary, Van Roy, Nadine, primary, Beiske, Klaus, primary, Renard, Marleen, primary, Noguera, Rosa, primary, Delattre, Olivier, primary, Janoueix-Lerosey, Isabelle, primary, Kogner, Per, primary, Martinsson, Tommy, primary, Nakagawara, Akira, primary, Ohira, Miki, primary, Caron, Huib, primary, Eggert, Angelika, primary, Cools, Jan, primary, Versteeg, Rogier, primary, and Speleman, Frank, primary

Published
2023
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20. Correction: Arterial tortuosity syndrome: 40 new families and literature review

Author

Beyens, Aude, Albuisson, Juliette, Boel, Annekatrien, Al-Essa, Mazen, Al-Manea, Waheed, Bonnet, Damien, Bostan, Ozlem, Boute, Odile, Busa, Tiffany, Canham, Nathalie, Cil, Ergun, Coucke, Paul J., Cousin, Margot A., Dasouki, Majed, De Backer, Julie, De Paepe, Anne, De Schepper, Sofie, De Silva, Deepthi, Devriendt, Koenraad, De Wandele, Inge, Deyle, David R., Dietz, Harry, Dupuis-Girod, Sophie, Fontenot, Eudice, Fischer-Zirnsak, Björn, Gezdirici, Alper, Ghoumid, Jamal, Giuliano, Fabienne, Baena, Neus, Haider, Mohammed Z., Hardin, Joshua S., Jeunemaitre, Xavier, Klee, Eric W., Kornak, Uwe, Landecho, Manuel F., Legrand, Anne, Loeys, Bart, Lyonnet, Stanislas, Michael, Helen, Moceri, Pamela, Mohammed, Shehla, Muiño-Mosquera, Laura, Nampoothiri, Sheela, Pichler, Karin, Prescott, Katrina, Rajeb, Anna, Ramos-Arroyo, Maria, Rossi, Massimiliano, Salih, Mustafa, Seidahmed, Mohammed Z., Schaefer, Elise, Steichen-Gersdorf, Elisabeth, Temel, Sehime, Uysal, Fahrettin, Vanhomwegen, Marine, Van Laer, Lut, Van Maldergem, Lionel, Warner, David, Willaert, Andy, Collins II, Tom R., Taylor, Andrea, Davis, Elaine C., Zarate, Yuri, and Callewaert, Bert

Published
2019
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23. The 2017 international classification of the Ehlers–Danlos syndromes

Author

Tinkle, Brad T., Malfait, Fransiska, Francomano, Clair A., Byers, Peter H., Malfait, Fransiska, Francomano, Clair, Byers, Peter, Belmont, John, Berglund, Britta, Black, James, Bloom, Lara, Bowen, Jessica M., Brady, Angela F., Burrows, Nigel P., Castori, Marco, Cohen, Helen, Colombi, Marina, Demirdas, Serwet, De Backer, Julie, De Paepe, Anne, Fournel‐Gigleux, Sylvie, Frank, Michael, Ghali, Neeti, Giunta, Cecilia, Grahame, Rodney, Hakim, Alan, Jeunemaitre, Xavier, Johnson, Diana, Juul‐Kristensen, Birgit, Kapferer‐Seebacher, Ines, Kazkaz, Hanadi, Kosho, Tomoki, Lavallee, Mark E., Levy, Howard, Mendoza‐Londono, Roberto, Pepin, Melanie, Pope, F. Michael, Reinstein, Eyal, Robert, Leema, Rohrbach, Marianne, Sanders, Lynn, Sobey, Glenda J., Van Damme, Tim, Vandersteen, Anthony, van Mourik, Caroline, Voermans, Nicol, Wheeldon, Nigel, Zschocke, Johannes, and Tinkle, Brad

Published
2017
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28. Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India.

Author

Shenoy, Rathika D., Shetty, Vikram, Dheedene, Annelies, Menten, Björn, Pandyanda Nanjappa, Dechamma, Chakraborty, Gunimala, Sips, Patrick, de Paepe, Anne, Callewaert, Bert, and Chakraborty, Anirban

Subjects
MANDIBULOFACIAL dysostosis, DEAFNESS, HEALTH outcome assessment, COLOBOMA, MICROCEPHALY, GENOTYPES, MEDICAL genetics, PHENOTYPES
Abstract

Objective: Facial dysostosis is a group of rare craniofacial congenital disabilities requiring multidisciplinary long-term care. This report presents the phenotypic and genotypic information from South India. Design: The study is a case series. Setting: This was an international collaborative study involving a tertiary craniofacial clinic and medical genetics unit. Patients, Participants: The participants were 9 families with 17 affected individuals of facial dysostosis. Intervention: Exome analysis focused on known genes associated with acrofacial and mandibulofacial syndromes. Main Outcome Measure: The outcome measure was to report phenotyptic and genetic heterogeneity in affected individuals. Results: A Tessier cleft was seen in 7 (41%), lower eyelid coloboma in 12 (65%), ear anomalies in 10 (59%), uniolateral or bilateral aural atresia in 4 (24%), and deafness in 6 (35%). The facial gestalt of Treacher Collins syndrome (TCS) showed extensive phenotypic variations. Pathogenic variants in TCOF1 (Treacher Collins syndrome) were seen in six families, POLR1A (acrofacial dysostosis, Cincinnati type) and EFTUD2 (mandibulofacial dysostosis with microcephaly) in one each. One family (11.1%) had no detectable variation. Five out of six probands with Treacher Collins syndrome had other affected family members (83.3%), including a non-penetrant mother, identified after sequencing. Conclusion: Our report illustrates the molecular heterogeneity of mandibulofacial dysostosis in India. [ABSTRACT FROM AUTHOR]

Published
2022
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30. Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial

Author

Ong, Kim-Thanh, Perdu, Jérôme, De Backer, Julie, Bozec, Erwan, Collignon, Patrick, Emmerich, Joseph, Fauret, Anne-Laure, Fiessinger, Jean-Noël, Germain, Dominique P, Georgesco, Gabriella, Hulot, Jean-Sebastien, De Paepe, Anne, Plauchu, Henri, Jeunemaitre, Xavier, Laurent, Stéphane, and Boutouyrie, Pierre

Published
2010
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32. Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialistsʼ Collaboration

Author

Pitcher, Alex, Emberson, Jonathan, Lacro, Ronald V., Sleeper, Lynn A., Stylianou, Mario, Mahony, Lynn, Pearson, Gail D., Groenink, Maarten, Mulder, Barbara J., Zwinderman, Aeilko H., De Backer, Julie, De Paepe, Anne M., Arbustini, Eloisa, Erdem, Guliz, Jin, Xu Yu, Flather, Marcus D., Mullen, Michael J., Child, Anne H., Forteza, Alberto, Evangelista, Arturo, Chiu, Hsin-Hui, Wu, Mei-Hwan, Sandor, George, Bhatt, Ami B., Creager, Mark A., Devereux, Richard B., Loeys, Bart, Forfar, Colin J., Neubauer, Stefan, Watkins, Hugh, Boileau, Catherine, Jondeau, Guillaume, Dietz, Harry C., and Baigent, Colin

Published
2015
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34. Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer

Author

Rebbeck, Timothy R., Mitra, Nandita, Wan, Fei, Sinilnikova, Olga M., Healey, Sue, McGuffog, Lesley, Mazoyer, Sylvie, Chenevix-Trench, Georgia, Easton, Douglas F., Antoniou, Antonis C., Nathanson, Katherine L., Laitman, Yael, Kushnir, Anya, Paluch-Shimon, Shani, Berger, Raanan, Zidan, Jamal, Friedman, Eitan, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Einbeigi, Zakaria, Loman, Niklas, Harbst, Katja, Rantala, Johanna, Melin, Beatrice, Huo, Dezheng, Olopade, Olufunmilayo I., Seldon, Joyce, Ganz, Patricia A., Nussbaum, Robert L., Chan, Salina B., Odunsi, Kunle, Gayther, Simon A., Domchek, Susan M., Arun, Banu K., Lu, Karen H., Mitchell, Gillian, Karlan, Beth Y., Walsh, Christine, Lester, Jenny, Godwin, Andrew K., Pathak, Harsh, Ross, Eric, Daly, Mary B., Whittemore, Alice S., John, Esther M., Miron, Alexander, Terry, Mary Beth, Chung, Wendy K., Goldgar, David E., Buys, Saundra S., Janavičius, Ramūnas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Steele, Linda, Neuhausen, Susan L., Ding, Yuan Chun, Ejlertsen, Bent, Gerdes, Anne-Marie, Hansen, Thomas v. O., Ramón y Cajal, Teresa, Osorio, Ana, Benitez, Javier, Godino, Javier, Tejada, Maria-Isabel, Duran, Mercedes, Weitzel, Jeffrey N., Bobolis, Kristie A, Sand, Sharon R., Fontaine, Annette, Savarese, Antonella, Pasini, Barbara, Peissel, Bernard, Bonanni, Bernardo, Zaffaroni, Daniela, Vignolo-Lutati, Francesca, Scuvera, Giulietta, Giannini, Giuseppe, Bernard, Loris, Genuardi, Maurizio, Radice, Paolo, Dolcetti, Riccardo, Manoukian, Siranoush, Pensotti, Valeria, Gismondi, Viviana, Yannoukakos, Drakoulis, Fostira, Florentia, Garber, Judy, Torres, Diana, Rashid, Muhammad Usman, Hamann, Ute, Peock, Susan, Frost, Debra, Platte, Radka, Evans, D. Gareth, Eeles, Rosalind, Davidson, Rosemarie, Eccles, Diana, Cole, Trevor, Cook, Jackie, Brewer, Carole, Hodgson, Shirley, Morrison, Patrick J., Walker, Lisa, Porteous, Mary E., Kennedy, M. John, Izatt, Louise, Adlard, Julian, Donaldson, Alan, Ellis, Steve, Sharma, Priyanka, Schmutzler, Rita Katharina, Wappenschmidt, Barbara, Becker, Alexandra, Rhiem, Kerstin, Hahnen, Eric, Engel, Christoph, Meindl, Alfons, Engert, Stefanie, Ditsch, Nina, Arnold, Norbert, Plendl, Hans Jörg, Mundhenke, Christoph, Niederacher, Dieter, Fleisch, Markus, Sutter, Christian, Bartram, C. R., Dikow, Nicola, Wang-Gohrke, Shan, Gadzicki, Dorothea, Steinemann, Doris, Kast, Karin, Beer, Marit, Varon-Mateeva, Raymonda, Gehrig, Andrea, Weber, Bernhard H., Stoppa-Lyonnet, Dominique, Sinilnikova, Olga M., Mazoyer, Sylvie, Houdayer, Claude, Belotti, Muriel, Gauthier-Villars, Marion, Damiola, Francesca, Boutry-Kryza, Nadia, Lasset, Christine, Sobol, Hagay, Peyrat, Jean-Philippe, Muller, Danièle, Fricker, Jean-Pierre, Collonge-Rame, Marie-Agnès, Mortemousque, Isabelle, Nogues, Catherine, Rouleau, Etienne, Isaacs, Claudine, De Paepe, Anne, Poppe, Bruce, Claes, Kathleen, De Leeneer, Kim, Piedmonte, Marion, Rodriguez, Gustavo, Wakely, Katie, Boggess, John, Blank, Stephanie V., Basil, Jack, Azodi, Masoud, Phillips, Kelly-Anne, Caldes, Trinidad, de la Hoya, Miguel, Romero, Atocha, Nevanlinna, Heli, Aittomäki, Kristiina, van der Hout, Annemarie H., Hogervorst, Frans B. L., Verhoef, Senno, Collée, J. Margriet, Seynaeve, Caroline, Oosterwijk, Jan C., Gille, Johannes J. P., Wijnen, Juul T., Garcia, Encarna B. Gómez, Kets, Carolien M., Ausems, Margreet G. E. M., Aalfs, Cora M., Devilee, Peter, Mensenkamp, Arjen R., Kwong, Ava, Olah, Edith, Papp, Janos, Diez, Orland, Lazaro, Conxi, Darder, Esther, Blanco, Ignacio, Salinas, Mónica, Jakubowska, Anna, Lubinski, Jan, Gronwald, Jacek, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Sukiennicki, Grzegorz, Huzarski, Tomasz, Byrski, Tomasz, Cybulski, Cezary, Toloczko-Grabarek, Aleksandra, Złowocka-Perłowska, Elżbieta, Menkiszak, Janusz, Arason, Adalgeir, Barkardottir, Rosa B., Simard, Jacques, Laframboise, Rachel, Montagna, Marco, Agata, Simona, Alducci, Elisa, Peixoto, Ana, Teixeira, Manuel R., Spurdle, Amanda B., Lee, Min Hyuk, Park, Sue K., Kim, Sung-Won, Friebel, Tara M., Couch, Fergus J., Lindor, Noralane M., Pankratz, Vernon S., Guidugli, Lucia, Wang, Xianshu, Tischkowitz, Marc, Foretova, Lenka, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Rau-Murthy, Rohini, Kauff, Noah, Fink-Retter, Anneliese, Singer, Christian F., Rappaport, Christine, Gschwantler-Kaulich, Daphne, Pfeiler, Georg, Tea, Muy-Kheng, Berger, Andreas, Greene, Mark H., Mai, Phuong L., Imyanitov, Evgeny N., Toland, Amanda Ewart, Senter, Leigha, Bojesen, Anders, Pedersen, Inge Sokilde, Skytte, Anne-Bine, Sunde, Lone, Thomassen, Mads, Moeller, Sanne Traasdahl, Kruse, Torben A., Jensen, Uffe Birk, Caligo, Maria Adelaide, Aretini, Paolo, Teo, Soo-Hwang, Selkirk, Christina G., Hulick, Peter J., and Andrulis, Irene

Published
2015
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39. List of Contributors

Author

Aglan, Mona, primary, Alanay, Yasemin, additional, Allingham, Rand, additional, Arlet, Vincent, additional, Baaj, Ali A., additional, Bächinger, Hans Peter, additional, Bishop, Nick J., additional, Boskey, Adele L., additional, Bowen, Richard, additional, Brennen, Feng-Shu, additional, Brodsky, Barbara, additional, Burshell, Alan, additional, Byers, Peter, additional, Caparrós-Martín, José Antonio, additional, Carleton, Stephanie M., additional, Challa, Pratap, additional, Chau, Felix Y., additional, Chien, Anna L., additional, Cho, Tae-Joon, additional, Cohen, Julie S., additional, Coors, Marilyn E., additional, Dalgleish, Raymond, additional, De Paepe, Anne, additional, DiGirolamo, Douglas J., additional, Doty, Stephen B., additional, Enagonia, Elisabeth, additional, Engelbert, Raoul H.H., additional, Esposito, Paul W., additional, Fassier, François R., additional, Fedarko, Neal S., additional, Frick, Steven L., additional, Gdalevitch, Marie, additional, Gentry, Bettina A., additional, Germain-Lee, Emily L., additional, Giunta, Cecilia, additional, Glorieux, Francis, additional, Grover, Monica, additional, Gujar, Bansari, additional, Hartsfield, James K., additional, Herndon, Leon, additional, Hochberg, Marc C., additional, Homan, Erica P., additional, Huber, Mary Beth, additional, Jacobsen, Stephen, additional, Joeng, Kyu Sang, additional, Joseph, Christopher, additional, Judge, Daniel P., additional, Kang, Sewon, additional, Koehler, Michelle, additional, Krakow, Deborah, additional, Kram, Vardit, additional, Lamandé, Shireen R., additional, Lapunzina, Pablo, additional, Lee, Brendan, additional, Lee, Paul P., additional, Leet, Arabella, additional, Leigh Bishop, P., additional, Leikin, Sergey, additional, Loeys, Bart, additional, Makareeva, Elena, additional, Malfait, Fransiska, additional, Martin, Elizabeth, additional, Martínez-Glez, Víctor, additional, Maumenee, Irene, additional, Mears, Simon C., additional, Mizuno, Kazunori, additional, Moffatt, Pierre, additional, Morello, Roy, additional, Mu, Euphemia W., additional, Orwoll, Eric S., additional, Papadimitriou, Kyriakos, additional, Pasala, Satish, additional, Pechon, Pierre H.M., additional, Persikov, Anton, additional, Phillips, Charlotte L., additional, Pillion, Joseph P., additional, Plotkin, Horacio, additional, Pokidysheva, Elena, additional, Puvanesarajah, Varun, additional, Rajagopal, Abbhirami, additional, Rameckers, Eugene A.A., additional, Rauch, Frank, additional, Retrouvey, Jean-Marc, additional, Rosenbaum, Kenneth N., additional, Rowe, David W., additional, Ruiz-Pe´rez, Víctor L., additional, Russell, R.Graham G., additional, Sandhaus, Robert A., additional, Santos, Felipe, additional, Schultz, Scott C., additional, Schwartz, Stéphane, additional, Shalaby-Rana, Eglal, additional, Shapiro, Jay R., additional, Owen Sillence, David, additional, Smith Hart, Tracy, additional, Sponseller, Paul, additional, Steinmann, Beat, additional, Sutton, V.Reid, additional, Symoens, Sofie, additional, Temtamy, Samia, additional, Tenorio, Jair, additional, Trovato, Melissa K., additional, Valencia, María, additional, Vajaranant, Thasarat S., additional, van Brussel, Marco, additional, Vernick, David M., additional, Wallace, Dana J., additional, Wolinsky, Jean-Paul, additional, Young, Marian F., additional, Zand, Dina J., additional, and Zionts, Lewis E., additional

Published
2014
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41. Leapfrogging with technology: introduction of a monitoring platform to support a large-scale Ebola vaccination program in Rwanda

Author

Mc Kenna, Paula, primary, Masyn, Serge, additional, Willems, Annik, additional, De Paepe, Anne, additional, Rutten, Romain, additional, Mazarati, Jean Baptiste, additional, Sayinzoga, Felix, additional, Karita, Etienne, additional, Nduwamungu, Jean Nepo, additional, Mazzei, Amelia, additional, Nyombayire, Julien, additional, Ingabire, Rosine, additional, Amponsah, Monica, additional, Egoeh, Seth Gogo, additional, and Ezeanochie, Nnamdi, additional

Published
2021
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46. Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum

Author

De Zaeytijd, Julie, Vanakker, Olivier M., Coucke, Paul J., De Paepe, Anne, De Laey, Jean-Jacques, and Leroy, Bart P.

Subjects
Pseudoxanthoma elasticum -- Diagnosis, Pseudoxanthoma elasticum -- Genetic aspects, Pseudoxanthoma elasticum -- Research, Ocular manifestations of general diseases -- Diagnosis, Ocular manifestations of general diseases -- Research, Fluorescence angiography -- Usage, Fluorescence angiography -- Research, Health
Published
2010

47. Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country

Author

Nampoothiri, Sheela, Yesodharan, Dhanya, Sainulabdin, Gazel, Narayanan, Dhanyalakshmi, Padmanabhan, Laxmi, Girisha, Katta Mohan, Cathey, Sara S., De Paepe, Anne, Malfait, Fransiska, Syx, Delfien, Hennekam, Raoul C., Bonafe, Luisa, Unger, Sheila, and Superti-Furga, Andrea

Published
2014
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49. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

Author

Faivre, Laurence, Masurel-Paulet, Alice, Collod-Beroud, Gwenaelle, Callewaert, Bert L., Child, Anne H., Stheneur, Chantal, Binquet, Christine, Gautier, Elodie, Chevallier, Bertrand, Huet, Frederic, Loeys, Bart L., Arbustini, Eloisa, Mayer, Karin, Arsland-Kirchner, Mine, Kiotsekoglou, Anatoli, Comeglio, Paolo, Grasso, Maurizia, Halliday, Dorothy J., Beroud, Christophe, Bonithon-Kopp, Claire, Claustres, Mireille, Robinson, Peter N., Ades, Lesley, De Backer, Julie, Coucke, Paul, Francke, Uta, De Paepe, Anne, Boileau, Catherine, and Jondeau, Guillaume

Subjects
Marfan syndrome -- Development and progression, Marfan syndrome -- Demographic aspects, Marfan syndrome -- Care and treatment, Marfan syndrome -- Research
Published
2009

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