Published in Am J Med Genet on March 01, 2002
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet (2004) 5.15
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
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Cell (2007) 3.06
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet (2009) 3.01
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet (2004) 2.99
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
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry (2009) 2.82
Genetics and pathophysiology of mental retardation. Eur J Hum Genet (2006) 2.52
Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized. Nat Rev Genet (2006) 2.42
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet (2002) 2.30
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24
Abnormal cortical voice processing in autism. Nat Neurosci (2004) 2.11
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation. Am J Psychiatry (2006) 2.05
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet (2010) 1.87
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Hum Mol Genet (2010) 1.83
Association between tumor necrosis factor receptor II and familial, but not sporadic, rheumatoid arthritis: evidence for genetic heterogeneity. Arthritis Rheum (2002) 1.81
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet (2008) 1.80
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
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat (2007) 1.68
Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. Ann Neurol (2002) 1.68
The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum (2002) 1.67
Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects. Trends Genet (2009) 1.66
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nat Genet (2003) 1.61
Key clinical features to identify girls with CDKL5 mutations. Brain (2008) 1.59
Mechanism of microtubule stabilization by doublecortin. Mol Cell (2004) 1.52
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am J Hum Genet (2003) 1.52
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. Hugo J (2010) 1.50
Diagnosis of cystic fibrosis in adults with diffuse bronchiectasis. J Cyst Fibros (2004) 1.50
Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes. PLoS Genet (2013) 1.50
Loss of X-linked mental retardation gene oligophrenin1 in mice impairs spatial memory and leads to ventricular enlargement and dendritic spine immaturity. J Neurosci (2007) 1.48
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet (2002) 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
Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice. Hum Mol Genet (2006) 1.44
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Rep (2012) 1.43
Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis. Arch Neurol (2008) 1.39
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Am J Hum Genet (2005) 1.38
Doublecortin functions at the extremities of growing neuronal processes. Cereb Cortex (2003) 1.38
Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up. PLoS One (2009) 1.36
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet (2008) 1.34
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
Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. Hum Mutat (2007) 1.31
Nonsyndromic X-linked mental retardation: where are the missing mutations? Trends Genet (2003) 1.30
What was the set of ubiquitin and ubiquitin-like conjugating enzymes in the eukaryote common ancestor? J Mol Evol (2009) 1.30
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain (2010) 1.30
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
Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis. J Neurosci (2008) 1.28
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. Hum Mutat (2006) 1.26
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. Brain (2008) 1.26
Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations. Eur J Hum Genet (2004) 1.26
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proc Natl Acad Sci U S A (2012) 1.26
Perception of complex sounds: abnormal pattern of cortical activation in autism. Am J Psychiatry (2003) 1.25
Human disorders of cortical development: from past to present. Eur J Neurosci (2006) 1.23
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nat Genet (2002) 1.23
Differentially activated macrophages orchestrate myogenic precursor cell fate during human skeletal muscle regeneration. Stem Cells (2013) 1.22
IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis. Hum Mol Genet (2003) 1.19
Motor control and children with autism: deficit of anticipatory function? Neurosci Lett (2003) 1.19
Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons. Brain Res Mol Brain Res (2004) 1.19
Deleterious mutations in exon 1 of MECP2 in Rett syndrome. Eur J Med Genet (2005) 1.17
Revised spectrum of mutations in sarcoglycanopathies. Eur J Hum Genet (2008) 1.17
Distinct roles of doublecortin modulating the microtubule cytoskeleton. EMBO J (2006) 1.16
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain (2013) 1.14
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
A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB. Mol Biol Cell (2008) 1.12
Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation. Hum Mol Genet (2009) 1.12
1H-NMR-based metabolomic profiling of CSF in early amyotrophic lateral sclerosis. PLoS One (2010) 1.12
Maternal exposure to LPS induces hypomyelination in the internal capsule and programmed cell death in the deep gray matter in newborn rats. Pediatr Res (2006) 1.11
A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation. Curr Biol (2010) 1.11
Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level. Biol Psychiatry (2009) 1.11
The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia (2008) 1.11
The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain. Mol Cell Neurosci (2003) 1.10
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Hum Genet (2005) 1.10
The incidence of Rett syndrome in France. Pediatr Neurol (2006) 1.09
Deficit in BDNF does not increase vulnerability to stress but dampens antidepressant-like effects in the unpredictable chronic mild stress. Behav Brain Res (2009) 1.08
X-linked mental retardation: focus on synaptic function and plasticity. J Neurochem (2009) 1.08
Increased perception of loudness in autism. Hear Res (2004) 1.06
Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway. Hum Mol Genet (2010) 1.06
CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery. Hum Mol Genet (2009) 1.05
Partial recovery of dopaminergic pathway after graft of adult mesenchymal stem cells in a rat model of Parkinson's disease. Neurochem Int (2008) 1.05
Variable effects of chronic subcutaneous administration of rotenone on striatal histology. J Comp Neurol (2004) 1.04
A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation. Neurogenetics (2009) 1.04