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Audiological findings in 100 USH2 patients
C. Abadie
,
Christophe Blanchet
,
David Baux
,
L Larrieu
,
Thomas Besnard
,
et al.
Article dans une revue
istex
hal-02444096v1
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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
Claire Guissart
,
Xenia Latypova
,
Paul Rollier
,
Tahir Khan
,
Hannah Stamberger
,
et al.
Article dans une revue
hal-01796580v1
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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
Justyna A. Karolak
,
Marie Vincent
,
Gail Deutsch
,
Tomasz Gambin
,
Benjamin Cogne
,
et al.
Article dans une revue
hal-02461467v1
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Experience of targeted Usher exome sequencing as a clinical test
Thomas Besnard
,
Gema García-García
,
David Baux
,
Christel Vaché
,
Valérie Faugère
,
et al.
Article dans une revue
hal-02433835v1
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New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.
Mathilde Pacault
,
Marie Vincent
,
Thomas Besnard
,
Caroline Kannengiesser
,
Claire Beneteau
,
et al.
Article dans une revue
hal-02622816v1
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Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy
Christel Vache
,
Thomas Besnard
,
Pauline Le Berre
,
Gema García-García
,
David Baux
,
et al.
Article dans une revue
istex
hal-02443312v1
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Four-Year Follow-up of Diagnostic Service in USH1 Patients
Anne-Françoise Roux
,
Valérie Faugère
,
Christel Vache
,
David Baux
,
Thomas Besnard
,
et al.
Article dans une revue
hal-02444128v1
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De Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual Disability
Bertrand Isidor
,
Sébastien Küry
,
Jill A. Rosenfeld
,
Thomas Besnard
,
Sébastien Schmitt
,
et al.
Article dans une revue
hal-01259225v1
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Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome
Christel Vaché
,
Thomas Besnard
,
Catherine Blanchet
,
David Baux
,
Lise Larrieu
,
et al.
Article dans une revue
hal-00552381v1
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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Thomas Besnard
,
Natacha Sloboda
,
Alice Goldenberg
,
Sébastien Küry
,
Benjamin Cogné
,
et al.
Article dans une revue
hal-02629360v1
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Non-USH2A mutations in USH2 patients.
Thomas Besnard
,
Christel Vaché
,
David Baux
,
Lise Larrieu
,
Caroline Abadie
,
et al.
Article dans une revue
inserm-00650795v1
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WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Mara Cavallin
,
Maria A Rujano
,
Nathalie Bednarek
,
Daniel Medina-Cano
,
Antoinette Bernabe Gelot
,
et al.
Article dans une revue
hal-02620552v1
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The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.
G. García-García
,
Thomas Besnard
,
David Baux
,
C. Vache
,
E. Aller
,
et al.
Molecular Vision, 2013, 19, pp.367-73
Article dans une revue
hal-02442047v1
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Benjamin Cogné
,
Sophie Ehresmann
,
Eliane Beauregard-Lacroix
,
Justine Rousseau
,
Thomas Besnard
,
et al.
Article dans une revue
hal-02181523v1
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Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
Marion Lenglet
,
Florence Robriquet
,
Klaus Schwarz
,
Carme Camps
,
Anne Couturier
,
et al.
Article dans une revue
hal-01833917v1
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Syndrome de Usher : Outils innovants pour une exploration moléculaire exhaustive
Thomas Besnard
Génétique humaine. Université Montpellier 1, 2012. Français. ⟨NNT : ⟩
Thèse
tel-01991183v1
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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.
Article dans une revue
inserm-00343965v1
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Sébastien Küry
,
Thomas Besnard
,
Frédéric Ebstein
,
Tahir N. Khan
,
Tomasz Gambin
,
et al.
Article dans une revue
hal-01478814v1
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Sébastien Küry
,
Geeske M van Woerden
,
Thomas Besnard
,
Martina Proietti Onori
,
Xénia Latypova
,
et al.
Article dans une revue
inserm-01813739v1
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