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Structure: Internal structure identifier : 334722

Transient Neonatal Liver Disease After Maternal Antenatal Intravenous Immunoglobulins in Gestational Alloimmune Liver Disease Associated With Neonatal Hemochromatosis

Julien Baruteau , Sophie Heissat , Pierre Broué , Sophie Collardeau-Frachon , Raymonde Bouvier et al.
Journal of Pediatric Gastroenterology and Nutrition, 2014, 59 (5), pp.629-635. ⟨10.1097/MPG.0000000000000514⟩
Journal articles hal-01064591v1
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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

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.
Pathologie Biologie, 2010, 58 (5), pp.396-401. ⟨10.1016/j.patbio.2009.12.002⟩
Journal articles istex inserm-00461832v1
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LIS1-Related Isolated Lissencephaly

Yoann Saillour , Nathalie Carion , Chloe Quelin , Pierre-Louis Leger , Nathalie Boddaert et al.
Archives of Neurology -Chigago-, 2009, 66 (8), pp.1007-1015. ⟨10.1001/archneurol.2009.149⟩
Journal articles hal-01104698v1
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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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Author Correction : A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne-Claude Tabet , Thomas Rolland , Marie Ducloy , Jonathan Levy , Julien Buratti et al.
npj Genomic Medicine, 2019, 4 (1), pp.16. ⟨10.1038/s41525-019-0090-y⟩
Journal articles hal-02347889v1

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Mouna Barat-Houari , Bruno Dumont , Aurelie J Fabre , Frédéric Tm Them , Yves Alembik et al.
European Journal of Human Genetics, 2016, 24 (7), pp.992-1000. ⟨10.1038/ejhg.2015.250⟩
Journal articles hal-01239808v1

Achieving SVR Does Not Prevent From Fibrosis Progression In Patients With FCH: Results From A Large French Prospective Multicentric ANRS CO23 Cupilt Cohort

Mylene Sebagh , Claire Fougerou-Leurent , Georges-Philippe Pageaux , Vincent Leroy , Jerome Dumortier et al.
Hepatology, 2017, 66, pp.872A-872A
Journal articles hal-01684629v1

Systemic Antifungal Prophylaxis in Patients Hospitalized in Hematology Units in France: The AFHEM Cross-Sectional Observational Study

Jean-Pierre Gangneux , Jean El Cheikh , Raoul Herbrecht , Ibrahim Yakoub-Agha , Jean-Baptiste Quiniou et al.
Infectious Diseases and Therapy, 2018, 7 (3), pp.309 - 325. ⟨10.1007/s40121-018-0203-4⟩
Journal articles hal-01879612v1

Pregnancy outcomes in prenatally diagnosed 47,XXX and 47,XYY syndromes: a 30-year French, retrospective, multicentre study

Marie-Agnès Collonge-Rame , Philippe Vago , Mylène Valduga , Nathalie Leporrier , François Vialard et al.
Prenatal Diagnosis, 2016, 36 (6), pp.523-529. ⟨10.1002/pd.4817⟩
Journal articles istex hal-01295644v1

Achieving SVR Does Not Prevent From Fibrosis Progession In Patients With FCH Results From A Large French Prospective Multicentric ANRS CO23 Cupilt Cohort

Mylene Sebagh , Claire Fougerou-Leurent , Georges-Philippe Pageaux , Vincent Leroy , Jerome Dumortier et al.
Hepatology, 2017, 66, pp.872A-872A
Journal articles hal-01769633v1

Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases.

N Gruchy , François Vialard , E Blondeel , Nolwenn Le Meur , G Joly-Hélas et al.
Prenatal Diagnosis, 2014, 34 (12), pp.1133-8. ⟨10.1002/pd.4439⟩
Journal articles istex hal-01116593v1

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Annie Laquérriere , Jérome Maluenda , Adrien Camus , Laura Fontenas , Klaus Dieterich et al.
Human Molecular Genetics, 2014, 23 (9), pp.2279--2289. ⟨10.1093/hmg/ddt618⟩
Journal articles hal-01064295v1
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Laparoscopic hysterectomy after concurrent radiochemotherapy in locally advanced cervical cancer compared to laparotomy: a multi institutional prospective pilot study of cost, surgical outcome and quality of life

Sandrine Baffert , S. Alran , V. Fourchotte , M. A. Traore , C. Simondi et al.
EJSO - European Journal of Surgical Oncology, 2016, 42 (3), pp.391-399. ⟨10.1016/j.ejso.2015.09.010⟩
Journal articles hal-01214004v1
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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

Clinical and molecular spectrum of renal malformations in Kabuki syndrome

Jean-Benoît Courcet , Laurence Faivre , Caroline Michot , Antoine Burguet , Stéphanie Perez-Martin et al.
The Journal of Pediatrics, 2013, 163 (3), pp.742--746. ⟨10.1016/j.jpeds.2013.02.032⟩
Journal articles hal-01064380v1

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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New insights into genotype-phenotype correlation for GLI3 mutations

Florence Démurger , Amale Ichkou , Soumaya Mougou-Zerelli , Martine Le Merrer , Géraldine Goudefroye et al.
European Journal of Human Genetics, 2015, 23 (1), pp.92-102. ⟨10.1038/ejhg.2014.62⟩
Journal articles hal-01064583v1
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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.
American Journal of Human Genetics, 2018, 102 (5), pp.744 - 759. ⟨10.1016/j.ajhg.2018.02.021⟩
Journal articles hal-01796580v1

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.

Frédérique Béna , Damien L Bruno , Mats Eriksson , Conny van Ravenswaaij-Arts , Zornitza Stark et al.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2013, 162B (4), pp.388-403. ⟨10.1002/ajmg.b.32148⟩
Journal articles istex hal-01120394v1
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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
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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

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

Nicolas Chatron , Kevin Cassinari , Olivier Quenez , Stéphanie Baert‐desurmont , Claire Bardel et al.
Human Mutation, 2019, 40 (11), pp.1993-2000. ⟨10.1002/humu.23845⟩
Journal articles hal-02339267v1

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Caroline Schluth Schluth-Bolard , Flavie Diguet , Nicolas Chatron , Pierre-Antoine Rollat-Farnier , Claire Bardel et al.
Journal of Medical Genetics, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
Journal articles hal-03863519v1
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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