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Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
Marguerite Miguet
,
Laurence Faivre
,
Jeanne Amiel
,
Mathilde Nizon
,
Renaud Touraine
et al.
Article dans une revue
hal-02064139v1
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Severe X-linked chondrodysplasia punctata in nine new female fetuses
Mathilde Lefebvre
,
Fabienne Dufernez
,
Ange-Line Bruel
,
Marie Gonzales
,
Bernard Aral
et al.
Article dans une revue
istex
hal-01376847v1
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Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test
Julien Thevenon
,
Yannis Duffourd
,
Alice Masurel-Paulet
,
M. . Lefebvre
,
François Feillet
et al.
Article dans une revue
hal-01405124v1
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Type A competitiveness traits correlate with downregulation of c-Fos expression in patients with type 1 diabetes
J.-C. Chauvet-Gélinier
,
A.-L. Mosca-Boidron
,
C. Lemogne
,
S. Ragot
,
N. Forestier
et al.
Article dans une revue
hal-01953572v1
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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.
Article dans une revue
hal-01670135v1
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Lucilla Pizzo
,
Matthew Jensen
,
Andrew Polyak
,
Jill Rosenfeld
,
Katrin Männik
et al.
Article dans une revue
hal-02059381v1
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Germline JAK2 L611S mutation in a child with thrombocytosis
Bernard Aral
,
Martine Courtois
,
Sylviane Ragot
,
Valentin Bourgeois
,
Elodie Bottollier-Lemallaz
et al.
Article dans une revue
hal-01761978v1
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Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
Estelle Lopez
,
Patrick Callier
,
Valérie Cormier-Daire
,
Didier Lacombe
,
Anne Moncla
et al.
Article dans une revue
istex
inserm-00662892v1
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Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes
J. Piard
,
B. Aral
,
P. Vabres
,
M. Holder-Espinasse
,
André Mégarbané
et al.
Article dans une revue
istex
hal-02279939v1
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Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients
Simon Verdez
,
Quentin Thomas
,
Philippine Garret
,
Céline Verstuyft
,
Emilie Tisserant
et al.
Article dans une revue
inserm-03694953v1
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Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes
Ange-Line Bruel
,
Brunella Franco
,
Yannis Duffourd
,
Julien Thévenon
,
Laurence Jego
et al.
Article dans une revue
hal-01789377v1
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Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
Salima El Chehadeh
,
R. Touraine
,
F. Prieur
,
W. Reardon
,
T. Bienvenu
et al.
Article dans une revue
hal-01452730v1
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15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia
Minh-Tuan Huynh
,
Anne-Sophie Lambert
,
Lucie Tosca
,
François Petit
,
Christophe Philippe
et al.
Article dans une revue
hal-01882481v1
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High HFE mutation incidence in idiopathic erythrocytosis
Bénédicte Burlet
,
Valentin Bourgeois
,
Céline Buriller
,
Bernard Aral
,
Fabrice Airaud
et al.
Article dans une revue
hal-01919082v1
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Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
Frédéric Tran Mau-Them
,
Julian Delanne
,
Anne-Sophie Denommé-Pichon
,
Hana Safraou
,
Ange-Line Bruel
et al.
Article dans une revue
hal-04081633v1
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