N. Ronce

发表

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

H. R. Crollius, P. Billuart, J. Fryns, 1998, Nature.

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

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

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.

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.

Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation.

P. Billuart, J. Chelly, C. Moraine, 1998, Pathologie-biologie.

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

C. Schwartz, S. Lenzner, H. Van Esch, 2005, Journal of Medical Genetics.

X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium.

S. Claes, H. Kremer, A. Toutain, 1999, American journal of medical genetics.

Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations

A. Toutain, N. Winer, A. Verloes, 2014, American journal of medical genetics. Part A.

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.

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.

P. Thomas, J. Fryns, H. van Bokhoven, 2002, American journal of human genetics.

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

J. Gécz, J. Fryns, T. Kleefstra, 2010, Molecular Psychiatry.

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.

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

A. Meindl, H. Ropers, R. Sudbrak, 2000, Nature Genetics.

Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31–p22.13 region

A. Toutain, C. Moraine, C. Francannet, 1997, Human Genetics.

A gene for FG syndrome maps in the Xq12-q21.31 region.

C. Romano, A. Poustka, M. Pembrey, 1997, American journal of medical genetics.

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes

A. Toutain, C. Wallgren‐Pettersson, J. Burn, 2002, European Journal of Human Genetics.

Exclusion of RAI2 as the causative gene for Nance-Horan syndrome

A. Toutain, J. Yates, N. Ronce, 1999, Human Genetics.

Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome

C. Romano, J. Opitz, M. Pembrey, 2003, European Journal of Human Genetics.

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 nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family.

J. Chelly, C. Moraine, M. Raynaud, 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.

Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin‐1 gene

M. Zilbovicius, C. Adamsbaum, N. Boddaert, 2004, American journal of medical genetics. Part A.

X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family.

M. Raynaud, C. Francannet, N. Ronce, 1998, American journal of medical genetics.

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

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

Twenty‐five novel mutations including duplications in the ATP7A gene

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

X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq.

A. Toutain, C. Houdayer, G. Lefort, 1993, Annales de genetique.

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

J. Gécz, J. Hettema, J. Fryns, 2010, Molecular Psychiatry.

Twenty‐five novel mutations including duplications in the ATP7A gene

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