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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
Journal articles
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 articles
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
Journal articles
hal-02965646v1
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Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect
Amélie Pinard
,
Nathalie Eudes
,
Julia Mitchell
,
Fanny Bajolle
,
Maude Grelet
Journal articles
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 articles
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 articles
hal-01670211v1
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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
Journal articles
hal-01670164v1
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Molecular Genetics of the Fibrillinopathies
Mélodie Aubart
,
Louise Benarroch
,
Pauline Arnaud
,
Gwenaelle Collod-Beroud
,
Guillaume Jondeau
Journal articles
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
Journal articles
hal-01670172v1
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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⟩
Journal articles
hal-01457375v1
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Actionable Genes, Core Databases, and Locus-Specific Databases
Amélie Pinard
,
Morgane Miltgen
,
Arnaud Blanchard
,
Hélène Mathieu
,
Jean-Pierre Desvignes
Journal articles
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⟩
Journal articles
hal-01670197v1
|
|
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
Journal articles
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
Journal articles
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
Journal articles
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
Journal articles
hal-01670135v1
|
|
The new Ghent criteria for Marfan syndrome: what do they change?
G Faivre
,
Gwenaëlle Collod-Béroud
,
A Adès
,
A Arbustini
,
C Child
Journal articles
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
Journal articles
hal-01670065v1
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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
Journal articles
inserm-00602236v1
|
|
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
Journal articles
hal-01670069v1
|
|
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
Journal articles
hal-01670010v1
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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
Journal articles
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
Journal articles
hal-01669921v1
|
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Dystonies monogéniques : l’hypothèse dopaminergique revisitée
Arnaud Blanchard
,
A. Roubertie
,
M. y Frédéric
,
M. Claustres
,
Gwenaëlle Collod-Béroud
Journal articles
hal-01669962v1
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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
Journal articles
hal-01669958v1
|
|
Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines
M Humbertclaude
,
Sylvie Tuffery-Giraud
,
C. Bareil
,
C. Thèze
,
P Paulet
Journal articles
hal-01670004v1
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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
Journal articles
hal-01669997v1
|
|
Cardiovascular manifestations in men and women carrying a FBN1 mutation
Delphine Detaint
,
Laurence Faivre
,
Gwenaelle Collod-Beroud
,
Anne Child
,
Bart L Loeys
Journal articles
hal-01669994v1
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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
Journal articles
inserm-00343925v2
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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
Journal articles
inserm-00396249v1
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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
Journal articles
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
Journal articles
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
Journal articles
hal-01669908v1
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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
Journal articles
inserm-00343886v1
|
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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
Journal articles
hal-01669916v1
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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
Journal articles
inserm-00396259v1
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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
Journal articles
inserm-00396263v1
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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
Journal articles
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 articles
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
Journal articles
inserm-00343965v1
|
|
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
Journal articles
inserm-00343940v2
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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
Journal articles
inserm-00344134v1
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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
Journal articles
inserm-00143113v2
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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 articles
inserm-00143572v1
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|
UMD (Universal Mutation Database): 2005 update
Christophe Béroud
,
Dalil Hamroun
,
Gwenaelle Collod-Beroud
,
Catherine Boileau
,
Thierry Soussi
Journal articles
hal-01669907v1
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Heterozygous TGFBR2 mutations in Marfan syndrome.
Takeshi Mizuguchi
,
Gwenaëlle Collod-Beroud
,
Takushi Akiyama
,
Marianne Abifadel
,
Naoki Harada
Journal articles
inserm-00143367v2
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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
Journal articles
inserm-00143439v1
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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
Journal articles
inserm-00143263v2
|
|
Marfan syndrome in the third Millennium.
Gwenaëlle Collod-Béroud
,
Catherine Boileau
Journal articles
inserm-00143603v2
|
|
Marfan syndrome in the third Millennium
Gwenaëlle Collod-Béroud
,
Catherine Boileau
Journal articles
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
Journal articles
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
Journal articles
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
Journal articles
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
Journal articles
hal-01662945v2
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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
Journal articles
inserm-00143175v1
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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
Journal articles
inserm-00143593v1
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[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
Journal articles
inserm-00143615v1
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|
Fibrillines et fibrillinopathies
Gwenaëlle Collod-Beroud
,
Catherine Boileau
Médecine/Sciences, 1996, 12 (10), pp.1077-1086
Journal articles
inserm-00344117v2
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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
Journal articles
hal-01662876v1
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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
Journal articles
inserm-00143563v1
|
|
Reply to "The question of heterogeneity in Marfan syndrome"
Catherine Boileau
,
Claudine Junien
,
Gwenaëlle Collod
,
Guillaume Jondeau
,
Olivier Dubourg
Journal articles
inserm-00348103v1
|
|
Reply to “The question of heterogeneity in Marfan syndrome”
Catherine Boileau
,
Claudine Junien
,
Gwenaelle Collod
,
Guillaume Jondeau
,
Olivier Dubourg
Journal articles
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
Journal articles
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
Journal articles
inserm-00143129v1
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|
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
Journal articles
inserm-00143533v1
|