(Q56270643)

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 January 2018

1 reference

Monogenic causes of X-linked mental retardation.

21 January 2018

1 reference

Identification of the gene FMR2, associated with FRAXE mental retardation

21 January 2018

1 reference

Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island

21 January 2018

1 reference

Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1

21 January 2018

1 reference

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

21 January 2018

1 reference

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

21 January 2018

1 reference

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

21 January 2018

1 reference

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

21 January 2018

1 reference

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

21 January 2018

1 reference

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

21 January 2018

1 reference

Nonsyndromic X-linked mental retardation: where are the missing mutations?

21 January 2018

1 reference

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

21 January 2018

1 reference

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

21 January 2018

1 reference

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

21 January 2018

1 reference

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

21 January 2018

1 reference

Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway

21 January 2018

1 reference

RNA and microRNAs in fragile X mental retardation

21 January 2018

1 reference

The fragile X syndrome: from molecular genetics to neurobiology

21 January 2018

1 reference

Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation

21 January 2018

1 reference

Rho proteins, mental retardation and the cellular basis of cognition

21 January 2018

1 reference

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

21 January 2018

1 reference

PAK3 mutation in nonsyndromic X-linked mental retardation

21 January 2018

1 reference

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

21 January 2018

1 reference

Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene

21 January 2018

1 reference

The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis.

21 January 2018

1 reference

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

21 January 2018

1 reference

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

21 January 2018

1 reference

Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons

21 January 2018

1 reference

Neurexin mediates the assembly of presynaptic terminals

21 January 2018

1 reference

Disorder-associated mutations lead to functional inactivation of neuroligins

21 January 2018

1 reference

Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy

21 January 2018

1 reference

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

21 January 2018

1 reference

Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice.

21 January 2018

1 reference

Neuronal Ca2+ sensor 1, the mammalian homologue of frequenin, is expressed in chromaffin and PC12 cells and regulates neurosecretion from dense-core granules

21 January 2018

1 reference

21 January 2018

1 reference

IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system.

21 January 2018

1 reference

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

21 January 2018

1 reference

Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).

21 January 2018

1 reference

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

21 January 2018

1 reference

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

21 January 2018

1 reference

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

21 January 2018

1 reference

MECP2 mutation in male patients with non-specific X-linked mental retardation.

21 January 2018

1 reference

Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

21 January 2018

1 reference

Cleavage of proBDNF by tPA/plasmin is essential for long-term hippocampal plasticity

21 January 2018

1 reference

A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos

21 January 2018

1 reference

X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome

21 January 2018

1 reference

RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice.

21 January 2018

1 reference

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

21 January 2018

1 reference

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

21 January 2018

1 reference

Nerve growth factor activates a Ras-dependent protein kinase that stimulates c-fos transcription via phosphorylation of CREB.

21 January 2018

1 reference

ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome

21 January 2018

1 reference

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome

21 January 2018

1 reference

FMR2 function: insight from a mouse knockout model

21 January 2018

1 reference

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

21 January 2018

1 reference

Identification of a mouse male-specific transplantation antigen, H-Y.

21 January 2018

1 reference

JmjC: cupin metalloenzyme-like domains in jumonji, hairless and phospholipase A2β

21 January 2018

1 reference

X inactivation as a source of behavioural differences in monozygotic female twins.

21 January 2018

1 reference

Human genetics. A father's imprint on his daughter's thinking.

21 January 2018

1 reference

Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing

21 January 2018

1 reference

The sequence organization of Yp/proximal Xq homologous regions of the human sex chromosomes is highly conserved.

21 January 2018

1 reference

Intelligence: genetics, genes, and genomics

21 January 2018

1 reference

Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France.

21 January 2018

1 reference

Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

21 January 2018

1 reference

Role of genotype in the cycle of violence in maltreated children

21 January 2018

1 reference

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

21 January 2018

1 reference

High prevalence of SLC6A8 deficiency in X-linked mental retardation

21 January 2018

1 reference

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

21 January 2018

1 reference

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients

21 January 2018

1 reference

Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation

21 January 2018

1 reference

Spine motility. Phenomenology, mechanisms, and function

21 January 2018

1 reference

Genesis of dendritic spines: insights from ultrastructural and imaging studies

21 January 2018

1 reference

Altered synaptic plasticity in a mouse model of fragile X mental retardation

21 January 2018

1 reference

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

21 January 2018

1 reference

Subtle chromosomal rearrangements in children with unexplained mental retardation

21 January 2018

1 reference

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

21 January 2018

1 reference

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

21 January 2018

1 reference

Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome

21 January 2018

1 reference

Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain

21 January 2018

1 reference

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

21 January 2018

1 reference

The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation

21 January 2018

1 reference

Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia.

21 January 2018

1 reference

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

21 January 2018

1 reference

ASPM is a major determinant of cerebral cortical size

21 January 2018

1 reference

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

21 January 2018

1 reference

Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene

21 January 2018

1 reference

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias

21 January 2018

1 reference

Cloning and regional localization of the mouse faciogenital dysplasia (Fgd1) gene.

21 January 2018

1 reference

Rett syndrome and MeCP2: linking epigenetics and neuronal function

21 January 2018

1 reference

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

21 January 2018

1 reference

X-linked creatine transporter defect: an overview

21 January 2018

1 reference

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

21 January 2018

1 reference

Clinical study and haplotype analysis in two brothers with Partington syndrome.

21 January 2018

1 reference

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

21 January 2018

1 reference

Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter

21 January 2018

1 reference

IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis

21 January 2018

1 reference

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

21 January 2018

1 reference

Genomewide analysis of the Drosophila tetraspanins reveals a subset with similar function in the formation of the embryonic synapse

21 January 2018

1 reference

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

21 January 2018

1 reference

Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association

21 January 2018

1 reference

Effects on blood pressure and exploratory behaviour of mice lacking angiotensin II type-2 receptor

21 January 2018

1 reference

A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)

21 January 2018

1 reference

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation

21 January 2018

1 reference

Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation

21 January 2018

1 reference

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.

21 January 2018

1 reference

The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers

21 January 2018

1 reference

Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor

31 March 2020

1 reference

Synapsin is a novel Rab3 effector protein on small synaptic vesicles. I. Identification and characterization of the synapsin I-Rab3 interactions in vitro and in intact nerve terminals

31 March 2020

1 reference

Synapsin is a novel Rab3 effector protein on small synaptic vesicles. II. Functional effects of the Rab3A-synapsin I interaction

31 March 2020

1 reference

Two affected boys in a Rett syndrome family: clinical and molecular findings

31 March 2020

1 reference

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

31 March 2020

1 reference

A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human.

31 March 2020

1 reference

Genes for intelligence on the X chromosome.

31 March 2020

1 reference

Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function.

31 March 2020

1 reference

Ancient linkage groups and frozen accidents.

31 March 2020

1 reference

Nonspecific X-linked mental retardation II: the frequency in British Columbia.

31 March 2020

1 reference

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group

31 March 2020

1 reference

Prevalence of fragile X syndrome

31 March 2020

1 reference

Screening of the ARX gene in 682 retarded males.

31 March 2020

1 reference

Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A

31 March 2020

1 reference

The fragile X syndrome: no evidence for any recent mutations

31 March 2020

1 reference

Nomenclature guidelines for X-linked mental retardation

31 March 2020

1 reference

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

31 March 2020

1 reference

A tiling resolution DNA microarray with complete coverage of the human genome

31 March 2020

1 reference

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.

31 March 2020

1 reference

Molecular-clinical spectrum of the ATR-X syndrome

31 March 2020

1 reference

A neural tetraspanin, encoded by late bloomer, that facilitates synapse formation

31 March 2020

1 reference

Cosegregation of T108A Elk-1 with mental retardation

31 March 2020

1 reference