M. Moizard

发表

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Mutation update for the GPC3 gene involved in Simpson‐Golabi‐Behmel syndrome and review of the literature

A. Toutain, E. Colin, S. Nampoothiri, 2018, Human mutation.

Duplication of exon 2 of the GPC3 gene in a case of Simpson‐Golabi‐Behmel syndrome

A. Toutain, M. Raynaud, A. David, 2014, American journal of medical genetics. Part A.

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

A. Toutain, N. Philip, A. Verloes, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Carotid artery dissection in an adult with the Simpson–Golabi–Behmel syndrome

D. Bonneau, M. Raynaud, T. Lebouvier, 2008, American journal of medical genetics. Part A.

Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium

J. Gécz, B. D. de Vries, S. Lenzner, 2007, Human mutation.

Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth

R. Pfundt, B. Yalcin, A. Toutain, 2021, Human Genetics.

Systematic analysis of X-inactivation in 19 XLMR families: extremely skewed profiles in carriers in three families

A. Toutain, C. Moraine, M. Raynaud, 2000, European Journal of Human Genetics.

Phenotype and genotype in females with POU3F4 mutations

F. Denoyelle, A. Toutain, M. Raynaud, 2009, Clinical Genetics.

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation

S. Haas, H. Ropers, V. Kalscheuer, 2013, American journal of medical genetics. Part A.

In-frame deletion in MECP2 causes mild nonspecific mental retardation.

J. Fryns, T. Kleefstra, H. van Bokhoven, 2002, American journal of medical genetics.

Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening

A. Toutain, C. Andres, C. Moraine, 2000, European Journal of Human Genetics.

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

H. Ropers, J. Fryns, J. Schaffer, 2002, Nature Genetics.

A patient with Simpson–Golabi–Behmel syndrome, biliary cirrhosis and successful liver transplantation

J. Gondry, H. Sevestre, B. Demeer, 2014, American journal of medical genetics. Part A.

Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?

A. Toutain, C. Billard, M. Moizard, 1998, American journal of medical genetics.

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

Albert David, Marie Gomot, Christian Andres, 2004, American journal of human genetics.

Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase

Christophe Béroud, Jamel Chelly, Mireille Claustres, 2009, Human mutation.

X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1.

A. Toutain, M. Raynaud, L. Villard, 1996, American journal of medical genetics.

FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3].

J. Opitz, M. Pembrey, C. Moraine, 2002, American journal of medical genetics.

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy

Christophe Béroud, Olivier Danos, Mireille Claustres, 2007, Human mutation.

Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening.

A. Toutain, C. Andres, C. Moraine, 2000, European journal of human genetics : EJHG.

Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome.

M. Raynaud, S. Elalaoui, A. Sefiani, 2010, The Turkish journal of pediatrics.

Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family.

A. Toutain, M. Raynaud, L. Colleaux, 1999, American journal of medical genetics.

X‐linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region

A. Toutain, C. Moraine, M. Raynaud, 1994, Clinical genetics.

TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment.

J. Chelly, C. Moraine, M. Gomot, 2002, American journal of medical genetics.

A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.

A. Toutain, L. Villard, N. Ronce, 1997, American journal of human genetics.

CUGC for Simpson-Golabi-Behmel syndrome (SGBS)

A. Toutain, A. Rauch, A. Baumer, 2019, European Journal of Human Genetics.

Mutation update for the GPC3 gene involved in Simpson–Golabi–Behmel syndrome and review of the literature

A. Toutain, E. Colin, S. Nampoothiri, 2018, Human mutation.

Are all Xq26.2 duplications overlapping GPC3 on array‐CGH a cause of Simpson‐Golabi‐Behmel syndrome? When do we need transcript analysis?

A. Toutain, C. Baumann, C. Dupont, 2018, Clinical genetics.

Twenty‐five novel mutations including duplications in the ATP7A gene

A. Toutain, S. Blesson, C. Moraine, 2011, Clinical genetics.

Twenty‐five novel mutations including duplications in the ATP7A gene

S. Blesson, C. Moraine, E. Bieth, 2011, Clinical genetics.

A patient with Simpson–Golabi–Behmel syndrome, biliary cirrhosis and successful liver transplantation

J. Gondry, H. Sevestre, B. Demeer, 2014, American journal of medical genetics. Part A.