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IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
Laurence Desmyter
,
Michella Ghassibé
,
Nicole Revencu
,
Odile Boute
,
M. Lees
et al.
Journal articles
inserm-00538240v1
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Les tests génétiques à l'heure de la deuxième révision des lois de bioéthique. [Genetic testing in the context of the revision of the French law on bioethics].
Dominique Bonneau
,
Sandrine Marlin
,
Damien Sanlaville
,
Jean-Michel Dupont
,
Hagay Sobol
et al.
Journal articles
istex
inserm-00461832v1
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Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.
Nicolas Chassaing
,
Christelle Golzio
,
Sylvie Odent
,
Léopoldine Lequeux
,
Adeline Vigouroux
et al.
Journal articles
inserm-00372285v1
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Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus
Jamal Ghoumid
,
Joris Andrieux
,
Bernard Sablonnière
,
Sylvie Odent
,
Nathalie Philippe
et al.
Journal articles
hal-00649446v1
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Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.
Christèle Dubourg
,
Damien Sanlaville
,
Martine Doco-Fenzy
,
Cédric Le Caignec
,
Chantal Missirian
et al.
Journal articles
inserm-00541962v1
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New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.
Julie Demars
,
Sylvie Rossignol
,
Irène Netchine
,
Kai Syin Lee
,
Mansur Shmela
et al.
Journal articles
inserm-00610827v1
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Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review
Laïla El Khattabi
,
Sylvie Jaillard
,
Joris Andrieux
,
Laurent Pasquier
,
Laurence Perrin
et al.
Journal articles
istex
hal-01165441v1
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Christel Depienne
,
Caroline Nava
,
Boris Keren
,
Solveig Heide
,
Agnès Rastetter
et al.
Journal articles
hal-01502135v1
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Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
Laïla El Khattabi
,
Fabien Guimiot
,
Eva Pipiras
,
Joris Andrieux
,
Clarisse Baumann
et al.
Journal articles
hal-01116591v1
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Delineation of 15q13.3 microdeletions.
Alice Masurel-Paulet
,
Joris Andrieux
,
Patrick Callier
,
Jean-Marie Cuisset
,
Cédric Le Caignec
et al.
Journal articles
istex
inserm-00466147v1
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5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects.
Sylvie Jaillard
,
Joris Andrieux
,
Ghislaine Plessis
,
Ana Cv Krepischi
,
Josette Lucas
et al.
Journal articles
istex
inserm-00595096v1
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Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma.
Alice Fievet
,
Marc-Antoine Belaud-Rotureau
,
Frédéric Dugay
,
Caroline Abadie
,
Catherine Henry
et al.
Journal articles
hal-00933759v1
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Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.
Caroline Schluth-Bolard
,
Bruno Delobel
,
Damien Sanlaville
,
Odile Boute
,
Jean-Marie Cuisset
et al.
Journal articles
inserm-00405484v1
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MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
Nathalie Le Meur
,
Muriel Holder-Espinasse
,
Sylvie Jaillard
,
Alice Goldenberg
,
Sylvie Joriot
et al.
Journal articles
inserm-00406331v1
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Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
Sandra Martin
,
Borja Rodríguez-Herreros
,
Jared Nielsen
,
Clara Moreau
,
Claudia Modenato
et al.
Journal articles
hal-01870357v1
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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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Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients
Salima El Chehadeh
,
Laurence Faivre
,
Anne-Laure Mosca-Boidron
,
Valérie Malan
,
Jeanne Amiel
et al.
Journal articles
istex
hal-01237099v1
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