Published in Eur J Med Genet on December 20, 2005
Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. Proc Natl Acad Sci U S A (2007) 2.27
A thorough MECP2 mutation analysis. Clin Genet (2008) 1.38
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1. Autism Res (2012) 1.10
MECP2 mutations in males. J Med Genet (2007) 1.05
Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome. Hum Mol Genet (2013) 0.98
IUGR differentially alters MeCP2 expression and H3K9Me3 of the PPARγ gene in male and female rat lungs during alveolarization. Birth Defects Res A Clin Mol Teratol (2011) 0.96
The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform. Neurogenetics (2008) 0.89
Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes. Eur J Hum Genet (2011) 0.87
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements. Eur J Hum Genet (2012) 0.86
The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome. Front Cell Neurosci (2015) 0.77
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet (2005) 3.87
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med (2011) 3.46
Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO. Science (2013) 3.45
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet (2006) 3.16
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum Mutat (2009) 2.93
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Genetics and pathophysiology of mental retardation. Eur J Hum Genet (2006) 2.52
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24
Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice. J Neurosci (2005) 2.20
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06
Successful management of cataplexy with intravenous immunoglobulins at narcolepsy onset. Ann Neurol (2004) 2.03
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. Hum Mutat (2007) 1.89
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet (2009) 1.81
Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method. Hum Mutat (2008) 1.78
Pancreas divisum is not a cause of pancreatitis by itself but acts as a partner of genetic mutations. Am J Gastroenterol (2011) 1.71
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. Am J Hum Genet (2011) 1.71
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat (2007) 1.68
The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum (2002) 1.67
Key clinical features to identify girls with CDKL5 mutations. Brain (2008) 1.59
Diagnosis of cystic fibrosis in adults with diffuse bronchiectasis. J Cyst Fibros (2004) 1.50
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet (2002) 1.45
Another patient with cryptic unbalanced translocation between chromosomes 4q and 18q: evidence by microarray CGH. Am J Med Genet A (2004) 1.45
Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia. Am J Hum Genet (2013) 1.45
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Hum Mol Genet (2002) 1.36
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet (2006) 1.33
A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes. J Clin Endocrinol Metab (2009) 1.32
PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase. J Cell Sci (2006) 1.30
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain (2010) 1.30
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain (2013) 1.29
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. Am J Hum Genet (2004) 1.29
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet (2010) 1.27
Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti. Hum Mol Genet (2007) 1.25
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nat Genet (2002) 1.23
Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome. Eur J Neurosci (2007) 1.23
Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood. J Pediatr (2010) 1.21
Early onset collagen VI myopathies: Genetic and clinical correlations. Ann Neurol (2010) 1.21
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. Eur J Med Genet (2010) 1.21
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am J Med Genet A (2012) 1.21
Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons. Brain Res Mol Brain Res (2004) 1.19
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions. Eur J Hum Genet (2008) 1.14
BRAF, p53 and SOX2 in anaplastic thyroid carcinoma: evidence for multistep carcinogenesis. Pathology (2011) 1.13
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. Neurogenetics (2009) 1.13
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Hum Mol Genet (2009) 1.13
The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia (2008) 1.11
Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH. Am J Med Genet A (2009) 1.10
Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations. Eur J Hum Genet (2007) 1.09
The incidence of Rett syndrome in France. Pediatr Neurol (2006) 1.09
Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials. Eur J Paediatr Neurol (2011) 1.08
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. Eur J Hum Genet (2006) 1.08
Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype. Eur J Hum Genet (2010) 1.08
Modulation of p38 mitogen-activated protein kinase cascade and metalloproteinase activity in diaphragm muscle in response to free radical scavenger administration in dystrophin-deficient Mdx mice. Am J Pathol (2007) 1.07
Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene. Oncogene (2003) 1.07
An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet (2004) 1.06
CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery. Hum Mol Genet (2009) 1.05
Defective B-cell-negative selection and terminal differentiation in the ICF syndrome. Blood (2003) 1.05
Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France. Am J Med Genet A (2004) 1.04
Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility. Hum Mutat (2011) 1.03
Extended spectrum of MBD5 mutations in neurodevelopmental disorders. Eur J Hum Genet (2013) 1.03
CFTR genotypes in patients with normal or borderline sweat chloride levels. Hum Mutat (2003) 1.02
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. Arch Neurol (2009) 1.02
Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. Hum Mutat (2006) 1.02
A FOXG1 mutation in a boy with congenital variant of Rett syndrome. Neurogenetics (2010) 1.01
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. Eur J Hum Genet (2009) 1.01
Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago. Am J Med Genet A (2005) 1.01
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics (2006) 1.00
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. Eur J Hum Genet (2008) 1.00
Distal intestinal obstruction syndrome in adults with cystic fibrosis. Clin Gastroenterol Hepatol (2004) 0.99
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. Hum Mutat (2003) 0.99
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. J Med Genet (2012) 0.98
Brain-derived neurotrophic factor, food intake regulation, and obesity. Arch Med Res (2011) 0.98
Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia. J Med Genet (2009) 0.97
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients. Eur J Hum Genet (2012) 0.97
Truncation of NHEJ1 in a patient with polymicrogyria. Hum Mutat (2007) 0.97
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. J Allergy Clin Immunol (2011) 0.97
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet J Rare Dis (2012) 0.97
TCF4 deletions in Pitt-Hopkins Syndrome. Hum Mutat (2008) 0.96
Rapid detection of common autosomal aneuploidies by quantitative fluorescent PCR on uncultured amniocytes. Eur J Hum Genet (2002) 0.96
MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications. Mol Diagn (2003) 0.95
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. Eur J Hum Genet (2005) 0.95
A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization. Hum Mutat (2010) 0.93
Intravascular bone marrow accumulation in persistent polyclonal lymphocytosis: a misleading feature for B-cell neoplasm. Mod Pathol (2004) 0.93
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. Am J Med Genet A (2013) 0.93
Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy. Am J Med Genet A (2009) 0.93
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. Am J Med Genet A (2011) 0.92