Camille Leroy

Hôpital Necker-Enfants Malades

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Dominique Gaillard

Université de Reims Champagne-Ardenne

Alain Verloès

Hôpital Robert-Debré

Emilie Landais

Université de Reims Champagne-Ardenne

Valérie Malan

Hôpital Necker-Enfants Malades

Martine Doco‐Fenzy

Centre Hospitalier Universitaire de Reims

Serge Romana

Assistance Publique – Hôpitaux de Paris

Valérie Cormier‐Daire

Hôpital Necker-Enfants Malades

Philippe Jonveaux

Agence de la Biomédecine

Brigitte Benzacken

Hôpital Jean-Verdier

Sophie Valleix

Université Paris Cité

Cooperative Institutions

Washington Center

207

University of Washington

193

Inserm

101

Assistance Publique – Hôpitaux de Paris

Université Paris Cité

Hôpital Necker-Enfants Malades

Sorbonne Paris Cité

Génétique Médicale & Génomique Fonctionelle

Hôpital Robert-Debré

Centre National de la Recherche Scientifique

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Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion

European Journal of Medical Genetics (2012)

Ksenija Vucurovic Emilie Landais Cécile Delahaigue Julien Eutrope Anouck Schneider

10.1016/j.ejmg.2012.07.009

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Citations (47)

Table of Contents, Volume 164A, Number 9, September 2014

American Journal of Medical Genetics Part A (2014)

Gözde Yes Anne Lebre Dos Santos Ömer Güran Ipek Özahi

The radiographs show the cone shaped epiphyses in the hand and the characteristic lateral spine in cono-spondylar dysplasia.See article by Ben-Omran et al. in this issue.

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Table of contents

10.1002/ajmg.a.36745

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La compétence des autorités judiciaires pour émettre un mandat d’arrêt européen

HAL (Le Centre pour la Communication Scientifique Directe) (2019)

Camille Leroy

Le seisme judiciaire ne devrait pas avoir lieu pour les parquets francais (a propos des arrets de la Cour de justice de l’Union europeenne du 27 mai 2019).

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Le concept d'arbitrage : regards croisés entre droit et sport / sous la responsabilité scientifique de Camille Leroy et Loïc Yboud

Camille Leroy doctorante Loïc Yboud

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VRK2 : A Novel Gene Causing Isolated Autosomal Dominant Bilateral Congenital Optic Nerve Hypoplasia

日本人類遺伝学会大会プログラム・抄録集 (2016)

Eva Pipiras K. Lewis Suzanne L. Mo Jonathan Camille Leroy Dupont Celine

Optic nerve hypoplasia

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Règles sportives et droit de l'Union Européenne : la recherche d'un équilibre entre les intérêts économiques et la dimension sociétale

HAL (Le Centre pour la Communication Scientifique Directe) (2017)

Camille Leroy

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Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy

Clinical Genetics (2015)

Camille Leroy M. Jacquemont Bérénice Doray Denis Lamblin Valérie Cormier‐Daire

The Xq25 duplications syndrome has recently emerged as a distinct clinical entity. We report here on six new patients belonging to two unrelated families and harbouring an Xq25 microduplication detected by array CGH. Similarly to previously reported cases, the phenotype of our patients is characterized by delayed milestones, speech disturbance, intellectual disability, abnormal behaviours and a characteristic facial dysmorphism. The common duplicated interval allowed further refinement of the shortest region of overlap to 173 kb, including only one gene, STAG2, which encodes a component of the cohesin complex. We suggest that increased STAG2 gene copy number and dysregulation of its downstream target genes may be responsible for the specific clinical findings of this syndrome. Therefore, the Xq25 microduplication could be considered as a novel cohesinopathy, thus increasing the group of these disorders.

10.1111/cge.12567

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Citations (24)

Protocole national de diagnostic et de soins (PNDS) de l’aniridie congénitale : synthèse pour le médecin traitant

Journal Français d Ophtalmologie (2022)

Dominique Brémond‐Gignac M. Robert A. Daruich V. Borderie F. Chiambaretta

10.1016/j.jfo.2022.01.005

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Duplication 8p11,23p11.21 impliquant le gène FGFR1 chez un fœtus présentant une agénésie complète du corps calleux par défaut de commissuration

Morphologie (2017)

Camille Leroy Féréchté Encha‐Razavi Marie‐Laure Maurin Charlotte Mechler M. Kuleva

10.1016/j.morpho.2017.07.027

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De novo deletion of TBL1XR1 in a child with non‐specific developmental delay supports its implication in intellectual disability

American Journal of Medical Genetics Part A (2014)

Anne‐Claude Tabet Camille Leroy Céline Dupont Emilie Serrano Karen Hernandez

We report on a 6‐year‐old child with a de novo 1.6 Mb deletion in the 3q26.31q26.32 region identified by SNP array, involving only one relevant gene: TBL1XR1 . The girl shows non‐specific, mild to moderate intellectual deficiency but no autistic behavior. Point mutations in TBL1XR1 have recently been implicated in three patients with intellectual disability (ID) and autistic features. Our report supports that haploinsufficiency for TBL1XR1 could be implicated in non‐ASD autosomal dominant ID. © 2014 Wiley Periodicals, Inc.

Haploinsufficiency

SNP

10.1002/ajmg.a.36619

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Citations (25)