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authFullName_s : Brigitte Gilbert-Dussardier
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Finger creases lend a hand in Kabuki syndrome.

Caroline Michot , Carole Corsini , Damien Sanlaville , Clarisse Baumann , Annick Toutain , et al.
European Journal of Medical Genetics, 2013, 56 (10), pp.556-560. ⟨10.1016/j.ejmg.2013.07.005⟩
Journal articles hal-00916763v1

Mutations in INF2 Are a Major Cause of Autosomal Dominant Focal Segmental Glomerulosclerosis

Olivia Boyer , Geneviève Benoit , Olivier Gribouval , Fabien Nevo , Marie-Josèphe Tête , et al.
Journal of the American Society of Nephrology, 2011, 22 (2), pp.239-245. ⟨10.1681/ASN.2010050518⟩
Journal articles hal-02519750v1

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 , Benoit Laloo , Malika Barillot , Thomas Barnetche , Camille Blanchard , et al.
Human Molecular Genetics, 2010, 19 (10), pp.2015-2027. ⟨10.1093/hmg/ddq083⟩
Journal articles istex inserm-02437944v1
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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.
Human Mutation, 2016, 37 (4), pp.354-358. ⟨10.1002/humu.22952⟩
Journal articles hal-01259225v1
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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Amélie Cordovado , Martina Schaettin , Mederic Jeanne , Veranika Panasenkava , Anne‐sophie Denommé‐pichon , et al.
Human Molecular Genetics, 2022, 31 (19), pp.3325-3340. ⟨10.1093/hmg/ddac114⟩
Journal articles hal-03719616v1

Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria.

Oriane Leuret , Magalie Barth , Alice Kuster , Didier Eyer , Loïc de Parscau , et al.
Journal of Inherited Metabolic Disease, 2012, 35 (6), pp.975-981. ⟨10.1007/s10545-012-9464-3⟩
Journal articles istex inserm-00679536v1
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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 , Julie Brocard , Eric Denarier , Nicole Monnier , France Piétri-Rouxel , et al.
Human Gene Therapy, 2013, 24 (7), pp.702-13. ⟨10.1089/hum.2013.052⟩
Journal articles inserm-00904818v1
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One NF1 Mutation may Conceal Another

Laurence Pacot , Cyril Burin Des Roziers , Ingrid Laurendeau , Audrey Briand-Suleau , Audrey Coustier , et al.
Genes, 2019, 10 (9), pp.633. ⟨10.3390/genes10090633⟩
Journal articles hal-02436873v1
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

Médéric Jeanne , Hélène Demory , Aubin Moutal , Marie-Laure Vuillaume , Sophie Blesson , et al.
American Journal of Human Genetics, 2021, 108 (5), pp.951-961. ⟨10.1016/j.ajhg.2021.04.004⟩
Journal articles hal-03221134v1
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Severe phenotype in patients with large deletions of NF1

Laurence Pacot , Dominique Vidaud , Audrey Sabbagh , Ingrid Laurendeau , Audrey Briand-Suleau , et al.
Cancers, 2021, 13 (12), pp.2963. ⟨10.3390/cancers13122963⟩
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 , David Baux , Christel Vaché , Catherine Blanchet , Isabelle Meunier , et al.
International Journal of Molecular Sciences, 2021, 22 (24), pp.13294. ⟨10.3390/ijms222413294⟩
Journal articles 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 , Thomas Besnard , Martina Proietti Onori , Xénia Latypova , et al.
American Journal of Human Genetics, 2017, 101 (5), pp.768 - 788. ⟨10.1016/j.ajhg.2017.10.003⟩
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 , Frédéric Ebstein , Tahir N. Khan , Tomasz Gambin , et al.
American Journal of Human Genetics, 2017, 100 (2), pp.352-363. ⟨10.1016/j.ajhg.2017.01.003⟩
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 , Amandine Brun , Yves Paulignan , Anne Reboul , et al.
Orphanet Journal of Rare Diseases, 2014, 9, pp.25. ⟨10.1186/1750-1172-9-25⟩
Journal articles hal-01020483v1

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 , Claude Bendavid , Azzedine Aboura , Amandine Etcheverry , et al.
European Journal of Medical Genetics, 2010, 53 (2), pp.66-75. ⟨10.1016/j.ejmg.2009.10.002⟩
Journal articles 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 , Gaëtan Macgrogan , Isabelle de Mascarel , Valerie Velasco , et al.
Breast Cancer Research, 2010, 12 (4), pp.R63. ⟨10.1186/bcr2626⟩
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 , Thomas Besnard , et al.
American Journal of Human Genetics, 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
Journal articles hal-02181523v1
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Growth charts in Kabuki syndrome 1

Valentin Ruault , Carole Corsini , Claire Duflos , Sandrine Akouete , Véra Georgescu , et al.
American Journal of Medical Genetics Part A, 2019, 182 (3), pp.446-453. ⟨10.1002/ajmg.a.61462⟩
Journal articles hal-03388687v1

Delineation of 15q13.3 microdeletions.

Alice Masurel-Paulet , Joris Andrieux , Patrick Callier , Jean-Marie Cuisset , Cédric Le Caignec , et al.
Clinical Genetics, 2010, 78 (2), pp.149-61. ⟨10.1111/j.1399-0004.2010.01374.x⟩
Journal articles 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 , Radu Harbuz , Rakia Bhouri , Nicolas Perrot , et al.
American Journal of Medical Genetics Part A, 2015, 167A (8), pp.1851-8. ⟨10.1002/ajmg.a.37101⟩
Journal articles 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 , Audrey Remenieras , Darouna Kattygnarath , Johny Bombled , Sandrine Lefèvre , et al.
Journal of Medical Genetics, 2011, 48 (4), pp.226. ⟨10.1136/jmg.2010.085068⟩
Journal articles hal-00614499v1

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

Sophie Giraud , Claire Bardel , Sophie Dupuis-Girod , Marie-France Carette , Brigitte Gilbert-Dussardier , et al.
Orphanet Journal of Rare Diseases, 2020, 15 (1), pp.254. ⟨10.1186/s13023-020-01533-2⟩
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 , et al.
American Journal of Obstetrics and Gynecology, 2021, 225 (1), pp.51.e1-51.e17. ⟨10.1016/j.ajog.2021.01.014⟩
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⟩
Journal articles 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.
Clinical Genetics, 2016, 89 (5), pp.630-635. ⟨10.1111/cge.12696⟩
Journal articles hal-01237103v1