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Gwenaelle Collod-Béroud
Gwenaelle Collod-Béroud
Unknown affiliation
Verified email at inserm.fr
Title
Cited by
Cited by
Year
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
FO Desmet, D Hamroun, M Lalande, G Collod-Béroud, M Claustres, ...
Nucleic acids research 37 (9), e67-e67, 2009
27912009
Heterozygous TGFBR2 mutations in Marfan syndrome
T Mizuguchi, G Collod-Beroud, T Akiyama, M Abifadel, N Harada, ...
Nature genetics 36 (8), 855-860, 2004
7842004
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study
L Faivre, G Collod-Beroud, BL Loeys, A Child, C Binquet, E Gautier, ...
The American Journal of Human Genetics 81 (3), 454-466, 2007
5952007
The molecular genetics of Marfan syndrome and related disorders
PN Robinson, E Arteaga-Solis, C Baldock, G Collod-Béroud, P Booms, ...
Journal of medical genetics 43 (10), 769-787, 2006
4962006
Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database
G Collod‐Béroud, S Le Bourdelles, L Ades, L Ala‐Kokko, P Booms, ...
Human mutation 22 (3), 199-208, 2003
4022003
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
L Faivre, RJ Gorlin, MK Wirtz, M Godfrey, N Dagoneau, JR Samples, ...
Journal of medical genetics 40 (1), 34-36, 2003
3182003
Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders
D Attias, C Stheneur, C Roy, G Collod-Béroud, D Detaint, L Faivre, ...
Circulation 120 (25), 2541-2549, 2009
2812009
UMD (Universal mutation database): a generic software to build and analyze locus‐specific databases
C Béroud, G Collod‐Béroud, C Boileau, T Soussi, C Junien
Human mutation 15 (1), 86-94, 2000
2412000
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
C Le Goff, C Mahaut, LW Wang, S Allali, A Abhyankar, S Jensen, ...
The American Journal of Human Genetics 89 (1), 7-14, 2011
2372011
A second locus for Marfan syndrome maps to chromosome 3p24. 2–p25
G Collod, MC Babron, G Jondeau, M Coulon, J Weissenbach, O Dubourg, ...
Nature genetics 8 (3), 264-268, 1994
2151994
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
L Faivre, A Masurel-Paulet, G Collod-Beroud, BL Callewaert, AH Child, ...
Pediatrics 123 (1), 391-398, 2009
2072009
Cardiovascular manifestations in men and women carrying a FBN1 mutation
D Détaint, L Faivre, G Collod-Beroud, AH Child, BL Loeys, C Binquet, ...
European heart journal 31 (18), 2223-2229, 2010
2032010
The new Ghent criteria for Marfan syndrome: what do they change?
L Faivre, G Collod‐Beroud, L Adès, E Arbustini, A Child, BL Callewaert, ...
Clinical genetics 81 (5), 433-442, 2012
1572012
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
L Faivre, G Collod-Beroud, A Child, B Callewaert, BL Loeys, C Binquet, ...
Journal of medical genetics 45 (6), 384-390, 2008
1562008
Long‐term follow‐up of DYT1 dystonia patients treated by deep brain stimulation: an open‐label study
L Cif, X Vasques, V Gonzalez, P Ravel, B Biolsi, G Collod‐Beroud, ...
Movement Disorders 25 (3), 289-299, 2010
1542010
Marfan Database: new mutations and new routines for the software
G Collod-Béroud, C Béroud, L Ades, C Black, M Boxer, DJH Brock, ...
Nucleic Acids Research 26 (1), 229-233, 1998
1391998
UMD (universal mutation database): 2005 update
C Béroud, D Hamroun, G Collod‐Béroud, C Boileau, T Soussi, ...
Human mutation 26 (3), 184-191, 2005
1382005
UMD‐predictor: a high‐throughput sequencing compliant system for pathogenicity prediction of any human cDNA substitution
D Salgado, JP Desvignes, G Rai, A Blanchard, M Miltgen, A Pinard, ...
Human mutation 37 (5), 439-446, 2016
1322016
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
V Carmignac, J Thevenon, L Adès, B Callewaert, S Julia, ...
The American Journal of Human Genetics 91 (5), 950-957, 2012
1272012
Marfan syndrome in the third Millennium
G Collod-Béroud, C Boileau
European Journal of Human Genetics 10 (11), 673-681, 2002
1252002
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