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authIdHal_s : gwenaelle-collod-beroud

Piezo1 is required for outflow tract and aortic valve development

Adèle Faucherre , Hamid Moha Ou Maati , Nathalie Nasr , Amélie Pinard , Alexis Theron , et al.
2019
Preprints, Working Papers, ... hal-02404255v1
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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 , et al.
neurogenetics, 2008, 9 (2), pp.143-50. ⟨10.1007/s10048-008-0123-7⟩
Journal articles inserm-00343965v1
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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 , et al.
Clinical Genetics, 2013, 84 (6), pp.507--521. ⟨10.1111/cge.12094⟩
Journal articles hal-01068032v1

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

Amélie Pinard , Nathalie Eudes , Julia Mitchell , Fanny Bajolle , Maude Grelet , et al.
MOLECULAR BIOLOGY REPORTS, 2018, 45 (5), pp.1507-1513. ⟨10.1007/s11033-018-4212-x⟩
Journal articles hal-01991345v1
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Molecular Genetics of the Fibrillinopathies

Mélodie Aubart , Louise Benarroch , Pauline Arnaud , Gwenaelle Collod-Beroud , Guillaume Jondeau , et al.
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 , et al.
Movement Disorders, 2016, 31 (8), pp.1251-1252. ⟨10.1002/mds.26717⟩
Journal articles hal-01670172v1
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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 , et al.
Human Mutation, 2010, 31 (1), pp.E1021 - E1042. ⟨10.1002/humu.21131⟩
Journal articles hal-01669921v1
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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 , et al.
American Journal of Human Genetics, 2012, 91 (5), pp.950 - 957. ⟨10.1016/j.ajhg.2012.10.002⟩
Journal articles hal-01670135v1
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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 , et al.
Nature Communications, 2023, 14 (1), pp.1543. ⟨10.1038/s41467-023-37110-x⟩
Journal articles hal-04044322v1
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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 , et al.
Human Mutation, 2016, 37 (5), pp.439 - 446. ⟨10.1002/humu.22965⟩
Journal articles hal-01670164v1
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Writing tremor: Should we look for a TOR1A mutation

Cécile Aerts , Alain Destée , Luc Defebvre , Alexandre Kreisler , François Cassim , et al.
Journal of the Neurological Sciences, 2017, 382, pp.146 - 147. ⟨10.1016/j.jns.2017.09.048⟩
Journal articles hal-01670211v1
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Variations in the poly-histidine repeat motif of HOXA1 predispose individuals to bicuspid aortic valve

Gaëlle Odelin , Adèle Faucherre , Damien Marchese , Amelie Pinard , Emilie Faure , et al.
2022
Preprints, Working Papers, ... hal-03815668v1
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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 , et al.
Journal of Molecular and Cellular Cardiology, 2020, 143, pp.51-62. ⟨10.1016/j.yjmcc.2020.03.013⟩
Journal articles hal-02863713v1
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Heterozygous TGFBR2 mutations in Marfan syndrome.

Takeshi Mizuguchi , Gwenaëlle Collod-Beroud , Takushi Akiyama , Marianne Abifadel , Naoki Harada , et al.
Nature Genetics, 2004, 36 (8), pp.855-60. ⟨10.1038/ng1392⟩
Journal articles inserm-00143367v2
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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 , et al.
Human Mutation, 2016, Next Generation Sequencing and Human Genetic Disease, 37 (12), pp.1318-1328. ⟨10.1002/humu.23113⟩
Journal articles hal-01670197v1
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Actionable Genes, Core Databases, and Locus-Specific Databases

Amélie Pinard , Morgane Miltgen , Arnaud Blanchard , Hélène Mathieu , Jean-Pierre Desvignes , et al.
Human Mutation, 2016, 37 (12, SI), pp.1299-1307. ⟨10.1002/humu.23112⟩
Journal articles hal-01469071v1
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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 , et al.
Physiological Genomics, 2020, 52 (12), pp.563-574. ⟨10.1152/physiolgenomics.00034.2020⟩
Journal articles hal-02965646v1
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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 , et al.
European Journal of Human Genetics, 2015, 24 (1), pp.146 - 150. ⟨10.1038/ejhg.2015.225⟩
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 , et al.
Clinical Genetics, 2015, 87 (3), pp.284-287. ⟨10.1111/cge.12358⟩
Journal articles hal-01670143v1
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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 , et al.
Human Mutation, 2016, Next Generation Sequencing and Human Genetic Disease, 37 (12), pp.1308-1317. ⟨10.1002/humu.23119⟩
Journal articles hal-01457375v1