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authFullName_s : Joris Andrieux

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

Flore Zufferey , Elliott H Sherr , Noam D Beckmann , Ellen Hanson , Anne M Maillard et al.
Journal of Medical Genetics, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal articles hal-01120401v1

Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations

Alonso Cárdenas-De-La-Parra , Sandra Martin-Brevet , Clara Moreau , Borja Rodriguez-Herreros , Vladimir Fonov et al.
NeuroImage, 2019, 203, pp.116155. ⟨10.1016/j.neuroimage.2019.116155⟩
Journal articles hal-02441775v1
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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.
European Journal of Medical Genetics, 2011, 54 (2), pp.144-51. ⟨10.1016/j.ejmg.2010.11.003⟩
Journal articles inserm-00541962v1
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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.
European Journal of Human Genetics, 2011, 19 (11), pp.1198-201. ⟨10.1038/ejhg.2011.95⟩
Journal articles hal-00649446v1

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.
Journal of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Journal articles hal-02064139v1
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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.
Human Mutation, 2011, 32 (10), pp.1171-82. ⟨10.1002/humu.21558⟩
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.
American Journal of Medical Genetics Part A, 2015, 167 (6), pp.1252--1261. ⟨10.1002/ajmg.a.36932⟩
Journal articles istex hal-01165441v1

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.
Human Genetics, 2017, 136 (4), pp.463-479. ⟨10.1007/s00439-017-1772-0⟩
Journal articles hal-01502135v1

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Laïla El Khattabi , Fabien Guimiot , Eva Pipiras , Joris Andrieux , Clarisse Baumann et al.
European Journal of Human Genetics, 2015, 23 (8), pp.1010-1018. ⟨10.1038/ejhg.2014.230⟩
Journal articles hal-01116591v1
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Sébastien Jacquemont , Alexandre Reymond , Flore Zufferey , Louise Harewood , Robin G. Walters et al.
Nature, 2011, 478 (7367), pp.97-102. ⟨10.1038/nature10406⟩
Journal articles inserm-00619240v1

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

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.
American Journal of Medical Genetics Part A, 2011, 155A (4), pp.725-31. ⟨10.1002/ajmg.a.33758⟩
Journal articles istex inserm-00595096v1

Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma.

Alice Fievet , Marc-Antoine Belaud-Rotureau , Frédéric Dugay , Caroline Abadie , Catherine Henry et al.
European Journal of Medical Genetics, 2013, 56 (12), pp.643-7. ⟨10.1016/j.ejmg.2013.10.004⟩
Journal articles hal-00933759v1

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.
American Journal of Medical Genetics Part A, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
Journal articles istex hal-01237099v1
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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.
European Journal of Medical Genetics, 2009, 52 (5), pp.291-6. ⟨10.1016/j.ejmg.2009.05.011⟩
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 of Medical Genetics, 2010, 47 (1), pp.22-9. ⟨10.1136/jmg.2009.069732⟩
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.
Biological Psychiatry, 2018, 84 (4), pp.253 - 264. ⟨10.1016/j.biopsych.2018.02.1176⟩
Journal articles hal-01870357v1