about
Identification of the gene encoding Brain Cell Membrane Protein 1 (BCMP1), a putative four-transmembrane protein distantly related to the Peripheral Myelin Protein 22 / Epithelial Membrane Proteins and the ClaudinsX-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin familyTM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutationTranscription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiencyX-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28A 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 patientsFragile X and X-linked intellectual disability: four decades of discoveryNon-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.X-linked mental retardation (XLMR): from clinical conditions to cloned genes.IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic featuresNovel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4.X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.Molecular and comparative genetics of mental retardation.XLMR genes: update 2007.Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.Genome-wide differential expression of synaptic long noncoding RNAs in autism spectrum disorderMonogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?XAP5 CIRCADIAN TIMEKEEPER regulates ethylene responses in aerial tissues of Arabidopsis.XAP5 CIRCADIAN TIMEKEEPER coordinates light signals for proper timing of photomorphogenesis and the circadian clock in Arabidopsis.A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases.Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation.Shashi XLMR syndrome: report of a second family.Family MRX9 revisited: further evidence for locus heterogeneity in MRX.Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23.Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3.
P2860
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P2860
description
2001 nî lūn-bûn
@nan
2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
XLMR genes: update 2000.
@ast
XLMR genes: update 2000.
@en
XLMR genes: update 2000.
@nl
type
label
XLMR genes: update 2000.
@ast
XLMR genes: update 2000.
@en
XLMR genes: update 2000.
@nl
prefLabel
XLMR genes: update 2000.
@ast
XLMR genes: update 2000.
@en
XLMR genes: update 2000.
@nl
P2093
P356
P1476
XLMR genes: update 2000.
@en
P2093
P2888
P356
10.1038/SJ.EJHG.5200603
P577
2001-02-01T00:00:00Z