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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.
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.
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.
Journal articles
hal-01068032v1
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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
,
et al.
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.
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.
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.
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.
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.
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 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 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.
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.
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.
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.
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.
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
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