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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 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.
Journal articles
hal-00916763v1
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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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LIS1-Related Isolated Lissencephaly
Yoann Saillour
,
Nathalie Carion
,
Chloe Quelin
,
Pierre-Louis Leger
,
Nathalie Boddaert
et al.
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.
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.
Journal articles
hal-02347889v1
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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.
Journal articles
hal-01239808v1
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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
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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.
Journal articles
hal-01879612v1
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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.
Journal articles
istex
hal-01295644v1
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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
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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.
Journal articles
istex
hal-01116593v1
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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.
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.
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.
Journal articles
inserm-00619240v1
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Clinical and molecular spectrum of renal malformations in Kabuki syndrome
Jean-Benoît Courcet
,
Laurence Faivre
,
Caroline Michot
,
Antoine Burguet
,
Stéphanie Perez-Martin
et al.
Journal articles
hal-01064380v1
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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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New insights into genotype-phenotype correlation for GLI3 mutations
Florence Démurger
,
Amale Ichkou
,
Soumaya Mougou-Zerelli
,
Martine Le Merrer
,
Géraldine Goudefroye
et al.
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.
Journal articles
hal-01796580v1
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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.
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.
Journal articles
hal-01870357v1
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Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis
Nicolas Chatron
,
Kevin Cassinari
,
Olivier Quenez
,
Stéphanie Baert‐desurmont
,
Claire Bardel
et al.
Journal articles
hal-02339267v1
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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 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.
Journal articles
inserm-00405484v1
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