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Finger creases lend a hand in Kabuki syndrome.
Caroline Michot
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Carole Corsini
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Damien Sanlaville
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Clarisse Baumann
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Annick Toutain
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Journal articles
hal-00916763v1
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Mutations in INF2 Are a Major Cause of Autosomal Dominant Focal Segmental Glomerulosclerosis
Olivia Boyer
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Geneviève Benoit
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Olivier Gribouval
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Fabien Nevo
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Marie-Josèphe Tête
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hal-02519750v1
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A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia
Delphine Simon
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Benoit Laloo
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Malika Barillot
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Thomas Barnetche
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Camille Blanchard
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et al.
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De Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual Disability
Bertrand Isidor
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Sébastien Küry
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Jill A. Rosenfeld
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Thomas Besnard
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Sébastien Schmitt
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et al.
Journal articles
hal-01259225v1
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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance
Amélie Cordovado
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Martina Schaettin
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Mederic Jeanne
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Veranika Panasenkava
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Anne‐sophie Denommé‐pichon
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et al.
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hal-03719616v1
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Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria.
Oriane Leuret
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Magalie Barth
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Alice Kuster
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Didier Eyer
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Loïc de Parscau
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Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.
John Rendu
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Julie Brocard
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Eric Denarier
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Nicole Monnier
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France Piétri-Rouxel
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et al.
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inserm-00904818v1
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One NF1 Mutation may Conceal Another
Laurence Pacot
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Cyril Burin Des Roziers
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Ingrid Laurendeau
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Audrey Briand-Suleau
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Audrey Coustier
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et al.
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hal-02436873v1
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Médéric Jeanne
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Hélène Demory
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Aubin Moutal
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Marie-Laure Vuillaume
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Sophie Blesson
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et al.
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hal-03221134v1
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Severe phenotype in patients with large deletions of NF1
Laurence Pacot
,
Dominique Vidaud
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Audrey Sabbagh
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Ingrid Laurendeau
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Audrey Briand-Suleau
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et al.
Journal articles
hal-03403724v1
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The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A
Luke Mansard
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David Baux
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Christel Vaché
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Catherine Blanchet
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Isabelle Meunier
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et al.
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hal-03503346v1
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Sébastien Küry
,
Geeske M van Woerden
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Thomas Besnard
,
Martina Proietti Onori
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Xénia Latypova
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et al.
Journal articles
inserm-01813739v1
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Sébastien Küry
,
Thomas Besnard
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Frédéric Ebstein
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Tahir N. Khan
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Tomasz Gambin
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et al.
Journal articles
hal-01478814v1
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The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.
Aurore Curie
,
Tatjana Nazir
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Amandine Brun
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Yves Paulignan
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Anne Reboul
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et al.
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hal-01020483v1
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Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.
Sylvie Jaillard
,
Séverine Drunat
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Claude Bendavid
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Azzedine Aboura
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Amandine Etcheverry
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istex
inserm-00434932v1
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Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations.
Guillaume Banneau
,
Mickaël Guedj
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Gaëtan Macgrogan
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Isabelle de Mascarel
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Valerie Velasco
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et al.
Journal articles
inserm-00663724v1
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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
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Thomas Besnard
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et al.
Journal articles
hal-02181523v1
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Growth charts in Kabuki syndrome 1
Valentin Ruault
,
Carole Corsini
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Claire Duflos
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Sandrine Akouete
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Véra Georgescu
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et al.
Journal articles
hal-03388687v1
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Delineation of 15q13.3 microdeletions.
Alice Masurel-Paulet
,
Joris Andrieux
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Patrick Callier
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Jean-Marie Cuisset
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Cédric Le Caignec
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et al.
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istex
inserm-00466147v1
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Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).
Capucine Hyon
,
Sandra Chantot-Bastaraud
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Radu Harbuz
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Rakia Bhouri
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Nicolas Perrot
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et al.
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istex
hal-01311723v1
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Novel FH mutations in families with hereditary leiomyomatosis renal cell cancer (HLRCC) and in patients with isolated type 2 papillary renal cell carcinoma
Betty Gardie
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Audrey Remenieras
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Darouna Kattygnarath
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Johny Bombled
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Sandrine Lefèvre
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et al.
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hal-00614499v1
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Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia
Sophie Giraud
,
Claire Bardel
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Sophie Dupuis-Girod
,
Marie-France Carette
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Brigitte Gilbert-Dussardier
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et al.
Journal articles
hal-03985098v1
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Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study
Lieske Schrijver
,
Antonis Antoniou
,
Håkan Olsson
,
Thea Mooij
,
Marie-José Roos-Blom
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et al.
Journal articles
hal-03664541v1
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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
Marine Legendre
,
Véronique Abadie
,
Tania Attié-Bitach
,
Nicole Philip
,
Tiffany Busa
,
et al.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2017, 175 (4), pp.417 - 430. ⟨10.1002/ajmg.c.31591⟩
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hal-01691932v1
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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey
Mathilde Lefebvre
,
Damien Sanlaville
,
Nathalie Marle
,
Christel Thauvin-Robinet
,
Élodie Gautier
,
et al.
Journal articles
hal-01237103v1
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