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Gwenaëlle COLLOD-BEROUD

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Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish

Gaelle Odelin , Adèle Faucherre , Damien Marchese , Amélie Pinard , Hager Jaouadi
Nature Communications, 2023, 14 (1), pp.1543. ⟨10.1038/s41467-023-37110-x⟩
Article dans une revue hal-04044322v1
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Piezo1 is required for outflow tract and aortic valve development.

Adèle Faucherre , Hamid Moha Ou Maati , Nathalie Nasr , Amélie Pinard , Alexis Theron
Journal of Molecular and Cellular Cardiology, 2020, 143, pp.51-62. ⟨10.1016/j.yjmcc.2020.03.013⟩
Article dans une revue hal-02863713v1
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Identification of a peripheral blood gene signature predicting aortic valve calcification

Donal Macgrogan , Beatriz Martínez-Poveda , Jean-Pierre Desvignes , Leticia Fernandez-Friera , Manuel José Gomez
Physiological Genomics, 2020, 52 (12), pp.563-574. ⟨10.1152/physiolgenomics.00034.2020⟩
Article dans une revue hal-02965646v1

Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect

Amélie Pinard , Nathalie Eudes , Julia Mitchell , Fanny Bajolle , Maude Grelet
MOLECULAR BIOLOGY REPORTS, 2018, 45 (5), pp.1507-1513. ⟨10.1007/s11033-018-4212-x⟩
Article dans une revue hal-01991345v1
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Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome

Pauline Arnaud , Nadine Hanna , Mélodie Aubart , Bruno Leheup , Sophie Dupuis-Girod
Journal of Medical Genetics, 2017, 54 (2), pp.100 - 103. ⟨10.1136/jmedgenet-2016-103996⟩
Article dans une revue hal-01670201v1
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Writing tremor: Should we look for a TOR1A mutation

Cécile Aerts , Alain Destée , Luc Defebvre , Alexandre Kreisler , François Cassim
Journal of the Neurological Sciences, 2017, 382, pp.146 - 147. ⟨10.1016/j.jns.2017.09.048⟩
Article dans une revue hal-01670211v1
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WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

Amélie Pinard , David Salgado , Jean-Pierre Desvignes , Ghadi Rai , Nadine Hanna
Human Mutation, 2016, Next Generation Sequencing and Human Genetic Disease, 37 (12), pp.1308-1317. ⟨10.1002/humu.23119⟩
Article dans une revue hal-01457375v1
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Molecular Genetics of the Fibrillinopathies

Mélodie Aubart , Louise Benarroch , Pauline Arnaud , Gwenaelle Collod-Beroud , Guillaume Jondeau
Article dans une revue hal-01682320v1
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Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia

Morgane Miltgen , Arnaud Blanchard , Hélène Mathieu , Alexandre Kreisler , Jean-Pierre Desvignes
Movement Disorders, 2016, 31 (8), pp.1251-1252. ⟨10.1002/mds.26717⟩
Article dans une revue hal-01670172v1
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UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

David Salgado , Jean-Pierre Desvignes , Ghadi Rai , Arnaud Blanchard , Morgane Miltgen
Human Mutation, 2016, 37 (5), pp.439 - 446. ⟨10.1002/humu.22965⟩
Article dans une revue hal-01670164v1
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Actionable Genes, Core Databases, and Locus-Specific Databases

Amélie Pinard , Morgane Miltgen , Arnaud Blanchard , Hélène Mathieu , Jean-Pierre Desvignes
Human Mutation, 2016, 37 (12, SI), pp.1299-1307. ⟨10.1002/humu.23112⟩
Article dans une revue hal-01469071v1
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BRCA Share: A Collection of Clinical BRCA Gene Variants

Christophe Béroud , Stanley I Letovsky , Corey D Braastad , Sandrine M Caputo , Olivia Beaudoux
Human Mutation, 2016, Next Generation Sequencing and Human Genetic Disease, 37 (12), pp.1318-1328. ⟨10.1002/humu.23113⟩
Article dans une revue hal-01670197v1
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Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

Mine Arslan-Kirchner , Eloisa Arbustini , Catherine Boileau , Philippe Charron , Anne Child
European Journal of Human Genetics, 2015, 24 (1), pp.146 - 150. ⟨10.1038/ejhg.2015.225⟩
Article dans une revue hal-01670149v1
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The revised ghent nosology; reclassifying isolated ectopia lentis

A. Chandra , D. Patel , A. Aragon-Martin , Amélie Pinard , Gwenaëlle Collod-Béroud
Clinical Genetics, 2015, 87 (3), pp.284-287. ⟨10.1111/cge.12358⟩
Article dans une revue hal-01670143v1
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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

P. Callier , B. Aral , N. Hanna , S. Lambert , H. Dindy
Clinical Genetics, 2013, 84 (6), pp.507--521. ⟨10.1111/cge.12094⟩
Article dans une revue hal-01068032v1
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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac , Julie Thevenon , Lesley Ades , Bert Callewaert , Sophie Julia
American Journal of Human Genetics, 2012, 91 (5), pp.950 - 957. ⟨10.1016/j.ajhg.2012.10.002⟩
Article dans une revue hal-01670135v1
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The new Ghent criteria for Marfan syndrome: what do they change?

G Faivre , Gwenaëlle Collod-Béroud , A Adès , A Arbustini , C Child
Clinical Genetics, 2012, 81 (5), pp.433 - 442. ⟨10.1111/j.1399-0004.2011.01703.x⟩
Article dans une revue hal-01670114v1
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Singular DYT6 phenotypes in association with new THAP1 frameshift mutations

Arnaud Blanchard , Agathe Roubertie , Marion Simonetta-Moreau , Vuthy Ea , Coline Coquart
Movement Disorders, 2011, 26 (9), pp.1775 - 1776. ⟨10.1002/mds.23641⟩
Article dans une revue hal-01670065v1
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DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene

Arnaud Blanchard , Vuthy Ea , Agathe Roubertie , Mélanie Martin , Coline Coquart
Human Mutation, 2011, 32 (11), pp.1213 - 1224. ⟨10.1002/humu.21564⟩
Article dans une revue hal-01670069v1
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Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year

Chantal Stheneur , Laurence Faivre , Gwenaelle Collod-Beroud , Élodie Gautier , Christine Binquet
Pediatric Research, 2011, 69 (3), pp.265 - 270. ⟨10.1203/PDR.0b013e3182097219⟩
Article dans une revue hal-01670010v1
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New Topoisomerase I mutations are associated with resistance to camptothecin.

Céline Gongora , Nadia Vezzio-Vie , Sandie Tuduri , Vincent Denis , Annick Causse
Molecular Cancer, 2011, 10 (1), pp.64. ⟨10.1186/1476-4598-10-64⟩
Article dans une revue inserm-00602236v1
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Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Carine Le Goff , Clementine C. Mahaut , Lauren W Wang , Slimane Allali , Avinash Abhyankar
American Journal of Human Genetics, 2011, 89 (1), pp.7 - 14. ⟨10.1016/j.ajhg.2011.05.012⟩
Article dans une revue hal-01670058v1
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Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains

Philippe Khau van Kien , David Baux , Nathalie Pallares-Ruiz , Corinne Baudoin , Aurélie Plancke
Human Mutation, 2010, 31 (1), pp.E1021 - E1042. ⟨10.1002/humu.21131⟩
Article dans une revue hal-01669921v1
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Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

Mine Arslan-Kirchner , Eloisa Arbustini , Catherine Boileau , Anne Child , Gwenaelle Collod-Beroud
European Journal of Human Genetics, 2010, 18 (9), ⟨10.1038/ejhg.2010.42⟩
Article dans une revue hal-01669997v1
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Cardiovascular manifestations in men and women carrying a FBN1 mutation

Delphine Detaint , Laurence Faivre , Gwenaelle Collod-Beroud , Anne Child , Bart L Loeys
European Heart Journal, 2010, 31 (18), pp.2223 - 2229. ⟨10.1093/eurheartj/ehq258⟩
Article dans une revue hal-01669994v1
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Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines

M Humbertclaude , Sylvie Tuffery-Giraud , C. Bareil , C. Thèze , P Paulet
Pathologie Biologie, 2010, 58 (5), pp.387 - 395. ⟨10.1016/j.patbio.2009.09.008⟩
Article dans une revue hal-01670004v1
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Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: An open-label study

Laura Cif , Xavier Vasques , Victoria Gonzalez , Patrice Ravel , Brigitte Biolsi
Movement Disorders, 2010, 25 (3), pp.289 - 299. ⟨10.1002/mds.22802⟩
Article dans une revue hal-01669958v1
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Dystonies monogéniques : l’hypothèse dopaminergique revisitée

Arnaud Blanchard , A. Roubertie , M. y Frédéric , M. Claustres , Gwenaëlle Collod-Béroud
Revue Neurologique, 2010, 166 (4), pp.389-399. ⟨10.1016/j.neurol.2009.09.007⟩
Article dans une revue hal-01669962v1
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Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

Laurence Faivre , Gwenaëlle Collod-Beroud , Bert L. Callewaert , Anne H. Child , Christine Binquet
European Journal of Human Genetics, 2009, 17 (4), pp.491-501. ⟨10.1038/ejhg.2008.207⟩
Article dans une revue inserm-00343925v2
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The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

Melissa Yana Frédéric , Christine Monino , Christoph Marschall , Dalil Hamroun , Laurence Faivre
Human Mutation, 2009, 30 (2), pp.181-90. ⟨10.1002/humu.20794⟩
Article dans une revue inserm-00343886v1
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UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

Mélissa Yana Frédéric , Marine Lalande , Catherine Boileau , Dalil Hamroun , Mireille Claustres
Human Mutation, 2009, 30 (6), pp.952-9. ⟨10.1002/humu.20970⟩
Article dans une revue inserm-00396237v1
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Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

François-Olivier Desmet , Dalil Hamroun , Marine Lalande , Gwenaëlle Collod-Béroud , Mireille Claustres
Nucleic Acids Research, 2009, 37 (9), pp.e67. ⟨10.1093/nar/gkp215⟩
Article dans une revue inserm-00396239v1
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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

G Faivre , Gwenaëlle Collod-Béroud , C Callewaert , C Child , L. Loeys
American Journal of Medical Genetics Part A, 2009, 149A (5), pp.854 - 860. ⟨10.1002/ajmg.a.32809⟩
Article dans une revue hal-01669908v1
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Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

Chantal Stheneur , Gwenaëlle Collod-Béroud , Laurence Faivre , Jean François Buyck , Laurent Gouya
European Journal of Human Genetics, 2009, 17 (9), pp.1121-8. ⟨10.1038/ejhg.2009.36⟩
Article dans une revue inserm-00396249v1
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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.

Laurence Faivre , Alice Masurel-Paulet , Gwenaëlle Collod-Béroud , Bert L. Callewaert , Anne H. Child
Pediatrics, 2009, 123 (1), pp.391-8. ⟨10.1542/peds.2008-0703⟩
Article dans une revue inserm-00396263v1
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The p.Asp216His TOR1A allele effect is not found in the French population.

Mélissa Yana Frédéric , Fabienne Clot , Arnaud Blanchard , Claire-Marie Dhaenens , Gaetan Lesca
Movement Disorders, 2009, 24 (6), pp.919-21. ⟨10.1002/mds.22407⟩
Article dans une revue inserm-00396259v1
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Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

David Attias , Chantal Stheneur , Carine Roy , Gwenaëlle Collod-Béroud , Delphine Detaint
Circulation, 2009, 120 (25), pp.2541 - 2549. ⟨10.1161/CIRCULATIONAHA.109.887042⟩
Article dans une revue hal-01669916v1
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A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.

Melissa Yana Frederic , Dalil Hamroun , Laurence Faivre , Catherine Boileau , Guillaume Jondeau
Human Mutation, 2008, 29 (1), pp.33-8. ⟨10.1002/humu.20602⟩
Article dans une revue inserm-00343980v2
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Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

Laurence Faivre , Gwenaëlle Collod-Beroud , Anne H. Child , Bert L. Callewaert , Bart L. Loeys
Journal of Medical Genetics, 2008, 45 (6), pp.384-90. ⟨10.1136/jmg.2007.056382⟩
Article dans une revue inserm-00343946v1
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Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

Mélissa Yana Frédéric , Fabienne Clot , Laura Cif , Arnaud Blanchard , Alexandra Dürr
neurogenetics, 2008, 9 (2), pp.143-50. ⟨10.1007/s10048-008-0123-7⟩
Article dans une revue inserm-00343965v1
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Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

Chantal Stheneur , Gwenaëlle Collod-Béroud , Laurence Faivre , Laurent Gouya , Gilles Sultan
Human Mutation, 2008, 29 (11), pp.E284-95. ⟨10.1002/humu.20871⟩
Article dans une revue inserm-00343940v2
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First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population.

Mélissa y Frédéric , Estelle Lucarz , Christine Monino , Céline Saquet , Delphine Thorel
Movement Disorders, 2007, 22 (6), pp.884-8. ⟨10.1002/mds.21391⟩
Article dans une revue inserm-00143113v2
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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.

Laurence Faivre , Gwenaëlle Collod-Beroud , Bart L. Loeys , Anne H. Child , Christine Binquet
American Journal of Human Genetics, 2007, 81 (3), pp.454-66. ⟨10.1086/520125⟩
Article dans une revue inserm-00344134v1
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The molecular genetics of Marfan syndrome and related disorders.

Peter N. Robinson , Emilio Arteaga-Solis , Clair Baldock , Gwenaëlle Collod-Béroud , Patrick Booms
Journal of Medical Genetics, 2006, 43 (10), pp.769-87. ⟨10.1136/jmg.2005.039669⟩
Article dans une revue inserm-00143572v1
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UMD (Universal Mutation Database): 2005 update

Christophe Béroud , Dalil Hamroun , Gwenaelle Collod-Beroud , Catherine Boileau , Thierry Soussi
Human Mutation, 2005, 26 (3), pp.184 - 191. ⟨10.1002/humu.20210⟩
Article dans une revue hal-01669907v1
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Heterozygous TGFBR2 mutations in Marfan syndrome.

Takeshi Mizuguchi , Gwenaëlle Collod-Beroud , Takushi Akiyama , Marianne Abifadel , Naoki Harada
Nature Genetics, 2004, 36 (8), pp.855-60. ⟨10.1038/ng1392⟩
Article dans une revue inserm-00143367v2
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Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

Gwenaëlle Collod-Béroud , Saga Le Bourdelles , Lesley Ades , Leena Ala-Kokko , Patrick Booms
Human Mutation, 2003, 22 (3), pp.199-208. ⟨10.1002/humu.10249⟩
Article dans une revue inserm-00143263v2
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In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

Laurence Faivre , J. R. Gorlin , M. K. Wirtz , Maurice Godfrey , N. Dagoneau
Journal of Medical Genetics, 2003, 40 (1), pp.34-6
Article dans une revue inserm-00143439v1
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Marfan syndrome in the third Millennium.

Gwenaëlle Collod-Béroud , Catherine Boileau
European Journal of Human Genetics, 2002, 10 (11), pp.673-81. ⟨10.1038/sj.ejhg.5200876⟩
Article dans une revue inserm-00143603v2
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Marfan syndrome in the third Millennium

Gwenaëlle Collod-Béroud , Catherine Boileau
European Journal of Human Genetics, 2002, 10 (11), pp.673 - 681. ⟨10.1038/sj.ejhg.5200876⟩
Article dans une revue hal-01669348v1
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UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.

Christophe Béroud , Gwenaëlle Collod-Béroud , Catherine Boileau , Thierry Soussi , Claudine Junien
Article dans une revue inserm-00143606v1
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Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.

Gwenaëlle Collod-Béroud , Marilyn Lackmy-Port-Lys , Guillaume Jondeau , Michèle Mathieu , Yves Maingourd
American Journal of Human Genetics, 1999, 65 (3), pp.917-21
Article dans une revue inserm-00143425v1
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Marfan Database (third edition): new mutations and new routines for the software.

Gwenaëlle Collod-Béroud , Christophe Béroud , Lesley Ades , Cheryl Black , Maureen Boxer
Nucleic Acids Research, 1998, 26 (1), pp.229-3
Article dans une revue inserm-00143200v1
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Apport de la génétique à la pathogénie et au diagnostic de la maladie de Marfan

C Boileau , Gwenaëlle Collod-Béroud , D Bonnet
Archives des Maladies du Coeur et des Vaisseaux, 1997, pp.1707-1712
Article dans une revue hal-01662945v2

[Contribution of genetics to pathogenicity and diagnosis of Marfan syndrome]

Catherine Boileau , Gwenaelle Collod , Damien Bonnet
Archives des Maladies du Coeur et des Vaisseaux, 1997, 90 (12 Suppl), pp.1707-12
Article dans une revue inserm-00143615v1
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Software and database for the analysis of mutations in the human LDL receptor gene.

Mathilde Varret , Jean-Pierre Rabès , Gwenaëlle Collod-Béroud , Claudine Junien , Catherine Boileau
Nucleic Acids Research, 1997, 25 (1), pp.172-80
Article dans une revue inserm-00143593v1

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.

Gwenaëlle Collod-Béroud , Christophe Béroud , Lesley C. Adès , Cheryl Black , Maureen Boxer
Nucleic Acids Research, 1997, 25 (1), pp.147-50
Article dans une revue inserm-00143175v1
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Fibrillines et fibrillinopathies

Gwenaëlle Collod-Beroud , Catherine Boileau
Médecine/Sciences, 1996, 12 (10), pp.1077-1086
Article dans une revue inserm-00344117v2
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Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2.

Gwenaëlle Collod , Mon-Li Chu , Takako Sasaki , Monique Coulon , Ruppert Timpl
European Journal of Human Genetics, 1996, 4 (5), pp.292-5
Article dans une revue inserm-00143563v1
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Software and database for the analysis of mutations in the human FBN1 gene

Gwenaelle Collod , Christophe Béroud , Thierry Soussi , Claudine Junien , Catherine Boileau
Nucleic Acids Research, 1996, 24 (1), pp.137-140. ⟨10.1093/nar/24.1.137⟩
Article dans une revue hal-01662876v1
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Reply to "The question of heterogeneity in Marfan syndrome"

Catherine Boileau , Claudine Junien , Gwenaëlle Collod , Guillaume Jondeau , Olivier Dubourg
Nature Genetics, 1995, 9 (3), pp.230-231. ⟨10.1038/ng0395-230⟩
Article dans une revue inserm-00348103v1
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Reply to “The question of heterogeneity in Marfan syndrome”

Catherine Boileau , Claudine Junien , Gwenaelle Collod , Guillaume Jondeau , Olivier Dubourg
Nature Genetics, 1995, 9 (3), pp.230-231. ⟨10.1038/ng0395-230⟩
Article dans une revue hal-01662707v1
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A second locus for Marfan syndrome maps to chromosome 3p24.2–p25

Gwenaelle Collod , Marie-Claude Babron , Guillaume Jondeau , Monique Coulon , Jean Weissenbach
Nature Genetics, 1994, 8 (3), pp.264-268. ⟨10.1038/ng1194-264⟩
Article dans une revue hal-01662693v1
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A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

Gwenaëlle Collod , Marie-Claude Babron , Guillaume Jondeau , Monique Coulon , Jean Weissenbach
Nature Genetics, 1994, 8 (3), pp.264-8. ⟨10.1038/ng1194-264⟩
Article dans une revue inserm-00143129v1

Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: further support for a unique European ancestral mutation.

Nathalie Loux , Bruno Saint-Jore , Gwenaelle Collod , Pascale Benlian , Jean-Pierre Cambou
Hum Mutat, 1993, 2 (2), pp.145-7. ⟨10.1002/humu.1380020216⟩
Article dans une revue inserm-00143533v1
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Marfan and Related Fibrillinopathies

Gwenaëlle Collod-Beroud , Catherine Boileau
Jürgen Fuchs and Maurizio Podda. Marcel Dekker, 6, pp.761-765, 2004
Ouvrages inserm-00343984v2
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Bioinformatics identification of splice site signals and prediction of mutation effects

François-Olivier Desmet , Dalil Hamroun , Gwenaëlle Collod-Béroud , Mireille Claustres , Christophe Béroud
RM Mohan. Research Advances In Nucleic Acids Research, Global Research Network Publishers, pp.1-14, 2010
Chapitre d'ouvrage hal-01671042v1
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Primary dystonia: In search of new genes...

Melissa Yana Frédéric , Sylvie Tuffery-Giraud , Gwenaëlle Collod-Beroud
Pr Mireille Claustres. Molecular Genetic Analysis of Rare Diseases in 2007: Selected examples, S.G. Pandalai and A. Gayathri, pp.59-77, 2007
Chapitre d'ouvrage inserm-00343976v1
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Chapter 8: The Marfan Mutation Database

Gwenaëlle Collod-Beroud , Catherine Boileau , Peter N. Robinson , Maurice Godfrey
Peter Robinson and Maurice Godfrey. Marfan Syndrome: A Primer for Clinicians and Scientists, Eurekah.com and Luwer Academic/Plenum Publishers, pp.1-11, 2004
Chapitre d'ouvrage inserm-00343985v2
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An Update on the Marfan Syndrome and its Pathological Aspects at the protein and Molecular Level

Gwenaëlle Collod-Beroud , Catherine Boileau
S.G. Pandalai. Recent Research Developments in Human Genetics, Vol 1, Research Signpost, pp.23-34, 2002
Chapitre d'ouvrage inserm-00343987v2