A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.
about
Distinct and overlapping functions of the cullin E3 ligase scaffolding proteins CUL4A and CUL4BDonor splice-site mutation in CUL4B is likely cause of X-linked intellectual disabilityVariants in CUL4B are associated with cerebral malformationsMutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremorNon-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.Cul4B regulates neural progenitor cell growth.Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26.X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityHuman teneurin-1 is a direct target of the homeobox transcription factor EMX2 at a novel alternate promoter.Regulation of histone H3K4 methylation in brain development and disease.Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.To live or to die: a matter of processing damaged DNA termini in neurons.Hypogonadism and neurological diseases.Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaksGenome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection.Zebrafish cul4a, but not cul4b, modulates cardiac and forelimb development by upregulating tbx5a expression.The RNA-binding protein, ZC3H14, is required for proper poly(A) tail length control, expression of synaptic proteins, and brain function in mice.Novel X-linked mental retardation syndrome with short stature maps to Xq24.Genetic Dissection of Human Stature in a Large Sample of Multiplex Pedigrees
P2860
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P2860
A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.
description
2000 nî lūn-bûn
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2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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name
A new X linked mental retardat ...... tremor localises to Xq24-q25.
@ast
A new X linked mental retardat ...... tremor localises to Xq24-q25.
@en
A new X linked mental retardat ...... tremor localises to Xq24-q25.
@nl
type
label
A new X linked mental retardat ...... tremor localises to Xq24-q25.
@ast
A new X linked mental retardat ...... tremor localises to Xq24-q25.
@en
A new X linked mental retardat ...... tremor localises to Xq24-q25.
@nl
prefLabel
A new X linked mental retardat ...... tremor localises to Xq24-q25.
@ast
A new X linked mental retardat ...... tremor localises to Xq24-q25.
@en
A new X linked mental retardat ...... tremor localises to Xq24-q25.
@nl
P2093
P2860
P356
P1476
A new X linked mental retardat ...... tremor localises to Xq24-q25.
@en
P2093
C E Schwartz
D A Cabezas
R E Stevenson
P2860
P304
P356
10.1136/JMG.37.9.663
P407
P577
2000-09-01T00:00:00Z