V. Desportes

发表

S. Vukusic, F. Durand-Dubief, K. Deiva, 2017, Journal of Neurology.

Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis

J. Fryns, B. Gilbert-Dussardier, D. Lacombe, 2006, Neurogenetics.

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X‐inactivation pattern

R. Touraine, N. Lévy, P. Edery, 2006, American journal of medical genetics. Part A.

Neuro-cognitive and behavioural aspects in non-specific mental retardation. A proposal for phenotyping new XLMR genes.

V. Buret, M. Gomot, A. Jacobs, 2002, Genetic counseling.

MECP2 gene mutations in non‐syndromic X‐linked mental retardation: Phenotype–genotype correlation

A. Toutain, A. Verloes, V. Kalscheuer, 2003, American journal of medical genetics. Part A.

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

J. Fryns, H. van Bokhoven, V. Kalscheuer, 2002, Human molecular genetics.

Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis

C. Garel, P. Gaucherand, M. Massoud, 2014, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Attention and Executive Disorders in Neurofibromatosis 1: Comparison Between NF1 With ADHD Symptomatology (NF1 + ADHD) and ADHD Per Se

G. Michael, V. Herbillon, C. Mercier, 2020, Journal of attention disorders.

MECP2 mutation in a boy with language disorder and schizophrenia.

D. Cohen, D. Heron, P. Couvert, 2002, The American journal of psychiatry.

Expanding the clinical phenotype of patients with a ZDHHC9 mutation

J. Thevenon, V. Kalscheuer, L. Faivre, 2014, American Journal of Medical Genetics. Part A.

CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period.

D. Ville, A. Arzimanoglou, G. Lesca, 2022, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Effect of desipramine on patients with breathing disorders in RETT syndrome

O. Blin, L. Vallée, P. Franco, 2017, Annals of clinical and translational neurology.