The new Ghent criteria for Marfan syndrome: what do they change?
Faivre, L, Collod-Beroud, G, Adès, L, Arbustini, E, Child, A, Callewaert, BL, Loeys, B, Binquet, C, Gautier, E, Mayer, K, Arslan-Kirchner, M, Grasso, M, Beroud, C, Hamroun, D, Bonithon-Kopp, C, Plauchu, H, Robinson, PN, De Backer, J, Coucke, P, Francke, U, Bouchot, O, Wolf, JE, Stheneur, C, Hanna, N, Detaint, D, De Paepe, A, Boileau, C, Jondeau, G
Published in Clinical genetics (01.05.2012)
Published in Clinical genetics (01.05.2012)
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Journal Article
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion
Faivre, L., Collod-Beroud, G., Callewaert, B., Child, A., Loeys, B.L., Binquet, C., Gautier, E., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Kiotsekoglou, A., Comeglio, P., Grasso, M., Beroud, C., Bonithon-Kopp, C., Claustres, M., Stheneur, C., Bouchot, O., Wolf, J.E., Robinson, P.N., Adès, L., De Backer, J., Coucke, P., Francke, U., De Paepe, A., Boileau, C., Jondeau, G.
Published in American journal of medical genetics. Part A (01.05.2009)
Published in American journal of medical genetics. Part A (01.05.2009)
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Journal Article
The molecular genetics of Marfan syndrome and related disorders
Robinson, P N, Arteaga-Solis, E, Baldock, C, Collod-Béroud, G, Booms, P, De Paepe, A, Dietz, H C, Guo, G, Handford, P A, Judge, D P, Kielty, C M, Loeys, B, Milewicz, D M, Ney, A, Ramirez, F, Reinhardt, D P, Tiedemann, K, Whiteman, P, Godfrey, M
Published in Journal of Medical Genetics (01.10.2006)
Published in Journal of Medical Genetics (01.10.2006)
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Journal Article
Book Review
The revised ghent nosology; reclassifying isolated ectopia lentis
Chandra, A., Patel, D., Aragon-Martin, J.A., Pinard, A., Collod-Béroud, G., Comeglio, P., Boileau, C., Faivre, L., Charteris, D., Child, A.H., Arno, G.
Published in Clinical genetics (01.03.2015)
Published in Clinical genetics (01.03.2015)
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Journal Article
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
Faivre, L, Gorlin, R J, Wirtz, M K, Godfrey, M, Dagoneau, N, Samples, J R, Le Merrer, M, Collod-Beroud, G, Boileau, C, Munnich, A, Cormier-Daire, V
Published in Journal of medical genetics (01.01.2003)
Published in Journal of medical genetics (01.01.2003)
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Journal Article
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
Faivre, L, Collod-Beroud, G, Child, A, Callewaert, B, Loeys, B L, Binquet, C, Gautier, E, Arbustini, E, Mayer, K, Arslan-Kirchner, M, Stheneur, C, Kiotsekoglou, A, Comeglio, P, Marziliano, N, Halliday, D, Beroud, C, Bonithon-Kopp, C, Claustres, M, Plauchu, H, Robinson, P N, Adès, L, De Backer, J, Coucke, P, Francke, U, De Paepe, A, Boileau, C, Jondeau, G
Published in Journal of medical genetics (01.06.2008)
Published in Journal of medical genetics (01.06.2008)
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Journal Article
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
Callier, P, Aral, B, Hanna, N, Lambert, S, Dindy, H, Ragon, C, Payet, M, Collod-Beroud, G, Carmignac, V, Delrue, MA, Goizet, C, Philip, N, Busa, T, Dulac, Y, Missotte, I, Sznajer, Y, Toutain, A, Francannet, C, Megarbane, A, Julia, S, Edouard, T, Sarda, P, Amiel, J, Lyonnet, S, Cormier-Daire, V, Gilbert, B, Jacquette, A, Heron, D, Collignon, P, Lacombe, D, Morice-Picard, F, Jouk, PS, Cusin, V, Willems, M, Sarrazin, E, Amarof, K, Coubes, C, Addor, MC, Journel, H, Colin, E, Khau Van Kien, P, Baumann, C, Leheup, B, Martin- Coignard, D, Doco-Fenzy, M, Goldenberg, A, Plessis, G, Thevenon, J, Pasquier, L, Odent, S, Vabres, P, Huet, F, Marle, N, Mosca- Boidron, AL, Mugneret, F, Gauthier, S, Binquet, C, Thauvin-Robinet, C, Jondeau, G, Boileau, C, Faivre, L
Published in Clinical genetics (01.12.2013)
Published in Clinical genetics (01.12.2013)
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Journal Article
Monogenetic dystonia: revisiting the dopaminergic hypothesis
Blanchard, A, Roubertie, A, Frédéric, M Y, Claustres, M, Collod-Béroud, G
Published in Revue neurologique (01.04.2010)
Published in Revue neurologique (01.04.2010)
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Journal Article
Marfan Database (third edition): New mutations and new routines for the software
Collod-Béroud, Gwenaëlle, Béroud, Christophe, Ades, Lesley, Black, Cheryl, Boxer, Maureen, Brock, David J. H., Holman, Katherine J., de Paepe, Anne, Francke, Uta, Grau, Ulrich, Hayward, Caroline, Klein, Hanns-Georg, Liu, Wanguo, Nuytinck, Lieve, Peltonen, Leena, Perez, Ana Beatriz Alvarez, Rantamäki, Terhi, Junien, Claudine, Boileau, Catherine
Published in Nucleic acids research (01.01.1998)
Published in Nucleic acids research (01.01.1998)
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Journal Article
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
Frédéric, M. Y., Clot, F., Cif, L., Blanchard, A., Dürr, A., Vuillaume, I., Lesca, G., Kreisler, A., Davin, C., Besnard, T., Rousset, F., Thorel, D., Saquet, C., Mechin, D., Ozelius, L., Agid, Y., Barroso, B., Chabrol, B., Chan, V., Clanet, M., Coubes, C., Destee, A., Nguyen, K., Vial, C., Vidailhet, M., Xie, J., Sablonniere, B., Calender, A., Brice, A., Roubertie, A., Coubes, P., Claustres, M., Tuffery-Giraud, S., Collod-Beroud, G.
Published in Neurogenetics (01.05.2008)
Published in Neurogenetics (01.05.2008)
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Journal Article
Software and database for the analysis of mutations in the human LDL receptor gene
Varret, M, Rabes, J.P, Collod-Beroud, G, Junien, C, Boileau, C, Beroud, C
Published in Nucleic acids research (1997)
Published in Nucleic acids research (1997)
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Journal Article
Demonstration of the Recurrence of Marfan-like Skeletal and Cardiovascular Manifestations Due to Germline Mosaicism for an FBN1 Mutation
Collod-Béroud, Gwenaëlle, Lackmy-Port-Lys, Marilyn, Jondeau, Guillaume, Mathieu, Michèle, Maingourd, Yves, Coulon, Monique, Guillotel, Michel, Junien, Claudine, Boileau, Catherine
Published in American journal of human genetics (01.09.1999)
Published in American journal of human genetics (01.09.1999)
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Journal Article
Dystonies monogéniques : l’hypothèse dopaminergique revisitée
Blanchard, A., Roubertie, A., Frédéric, M.Y., Claustres, M., Collod-Béroud, G.
Published in Revue neurologique (2010)
Published in Revue neurologique (2010)
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Journal Article
Heterozygous TGFBR2 mutations in Marfan syndrome
Kajii, Tadashi, Matsumoto, Naomichi, Morisaki, Takayuki, Morisaki, Hiroko, Collod-Beroud, Gwenaëlle, Ihara, Makoto, Mizuguchi, Takeshi, Claustres, Mireille, Varret, Mathilde, Jondeau, Guillaume, Boileau, Catherine, Yoshiura, Koh-ichiro, Junien, Claudine, Kishino, Tatsuya, Akiyama, Takushi, Kinoshita, Akira, Ohta, Tohru, Abifadel, Marianne, Harada, Naoki, Nakamura, Yusuke, Furukawa, Yoichi, Niikawa, Norio, Allard, Delphine
Published in Nature genetics (01.08.2004)
Published in Nature genetics (01.08.2004)
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Journal Article
Bicuspid aortic valve and aortopathy: Genetic background through 4 familial case reports
Gérard, H., Avierinos, J.F., Theron, A., Simoni, A.S., Habib, G., Norscini, G., Collod-Beroud, G., Zaffran, S.
Published in Archives of Cardiovascular Diseases Supplements (01.01.2021)
Published in Archives of Cardiovascular Diseases Supplements (01.01.2021)
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Journal Article
Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement
Danielsson, Annika, Carecchio, Miryam, Cif, Laura, Koy, Anne, Lin, Jean-Pierre, Solders, Göran, Romito, Luigi, Lohmann, Katja, Garavaglia, Barbara, Reale, Chiara, Zorzi, Giovanna, Nardocci, Nardo, Coubes, Philippe, Gonzalez, Victoria, Roubertie, Agathe, Collod-Beroud, Gwenaelle, Lind, Göran, Tedroff, Kristina
Published in Journal of clinical medicine (06.12.2019)
Published in Journal of clinical medicine (06.12.2019)
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Journal Article
Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene
Collod-Béroud, Gwenaëlle, Béroud, Christophe, Adès, Lesley, Black, Cheryl, Boxer, Maureen, Brock, David J., Godfrey, Maurice, Hayward, Carolyne, Karttunen, Leena, Milewicz, Dianna, Peltonen, Leena, Richards, Robert I., Wang, Mei, Junien, Claudine, Boileau, Catherine
Published in Nucleic acids research (01.01.1997)
Published in Nucleic acids research (01.01.1997)
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Journal Article
UMD (Universal Mutation Database): 2005 update
Béroud, Christophe, Hamroun, Dalil, Collod-Béroud, Gwenaëlle, Boileau, Catherine, Soussi, Thierry, Claustres, Mireille
Published in Human mutation (01.09.2005)
Published in Human mutation (01.09.2005)
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Journal Article
Marfan syndrome in the third Millennium
Collod-Béroud, Gwenaëlle, Boileau, Catherine
Published in European journal of human genetics : EJHG (01.11.2002)
Published in European journal of human genetics : EJHG (01.11.2002)
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