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

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Nonsyndromic X-linked mental retardation: where are the missing mutations? is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/S0168-9525(03)00113-6
P698PubMed publication ID12801724

P50authorJozef GéczQ16230617
Jamel ChellyQ18169920
Hans-Hilger RopersQ20607814
Jean-Pierre FrynsQ28468805
Maria HoeltzenbeinQ28468810
Vera M. KalscheuerQ28468812
Claude MoraineQ28468815
Ben HamelQ88244414
Helger G YntemaQ114367419
P2093author name stringMichael Partington
P2860cites workA missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardationQ22009561
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardationQ24290357
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardationQ24292446
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardationQ24314619
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28Q24563790
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyQ28206529
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardationQ28215614
X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARXQ28217919
Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signalingQ28218983
PAK3 mutation in nonsyndromic X-linked mental retardationQ28281729
Comprehensive human genetic maps: individual and sex-specific variation in recombinationQ29618511
Genes for cognitive function: developments on the X.Q33836808
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardationQ33872910
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.Q33888444
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in malesQ34144191
XLMR genes: update 2000.Q34225912
Monogenic causes of X-linked mental retardation.Q34354315
Identification of the gene FMR2, associated with FRAXE mental retardationQ34385889
Mutations in GDI1 are responsible for X-linked non-specific mental retardationQ34471146
Genetic effects on human cognition: lessons from the study of mental retardation syndromesQ34542327
MECP2 is highly mutated in X-linked mental retardationQ48369835
Low frequency of MECP2 mutations in mentally retarded males.Q51955397
Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family.Q51972756
Nonspecific X-linked mental retardation II: the frequency in British Columbia.Q52105786
Renpenning's syndrome--X-linked mental retardation.Q52123854
Genes for intelligence on the X chromosome.Q55502723
How many X-linked genes for non-specific mental retardation (MRX) are there?Q71578912
Prevalence of fragile X syndromeQ71578926
P433issue6
P304page(s)316-320
P577publication date2003-06-01
P1433published inTrends in GeneticsQ2451468
P1476titleNonsyndromic X-linked mental retardation: where are the missing mutations?
P478volume19

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cites work (P2860)
Q35124057A computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis
Q34502255A novel mutation in JARID1C gene associated with mental retardation
Q36886749A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.
Q37519864Bioinformatical assay of human gene morbidity
Q37408049Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females
Q24676259Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males
Q24292830Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
Q47444133Enrichment of brain-related genes on the mammalian X chromosome is ancient and predates the divergence of synapsid and sauropsid lineages
Q36193571FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation
Q45345384Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Q37134140Lessons learnt from large-scale exon re-sequencing of the X chromosome
Q51929767Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation.
Q34629758Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy
Q51906849MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.
Q34643439Molecular and comparative genetics of mental retardation
Q43804873Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.
Q51914749Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology.
Q33998564Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation
Q24534092Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
Q24530632Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
Q24532155Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation
Q28186625Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
Q47215690Phf8 histone demethylase deficiency causes cognitive impairments through the mTOR pathway
Q46888969Reply to Mandel
Q47336770Screening of the ARX gene in 682 retarded males.
Q24561378TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation
Q21735931The DNA sequence of the human X chromosome
Q35794311The genetic basis for sex differences in human behaviour: role of the sex chromosomes
Q28296072The mental retardation protein PAK3 contributes to synapse formation and plasticity in hippocampus
Q41919203Unbalanced X; autosome translocation
Q36239035X linked mental retardation: a clinical guide
Q56270643X-linked mental retardation
Q40232805X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.

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