Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition
about
Fragile X and X-linked intellectual disability: four decades of discoveryFMRP Expression Levels in Mouse Central Nervous System Neurons Determine Behavioral Phenotype.De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity.FMRP regulates neurogenesis in vivo in Xenopus laevis tadpoles.Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.Long time no see: the Type and Contre-type concept.Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes
P2860
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P2860
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition
description
2009 nî lūn-bûn
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2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
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2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Familial interstitial Xq27.3q2 ...... c mental retardation condition
@ast
Familial interstitial Xq27.3q2 ...... c mental retardation condition
@en
Familial interstitial Xq27.3q2 ...... c mental retardation condition
@nl
type
label
Familial interstitial Xq27.3q2 ...... c mental retardation condition
@ast
Familial interstitial Xq27.3q2 ...... c mental retardation condition
@en
Familial interstitial Xq27.3q2 ...... c mental retardation condition
@nl
prefLabel
Familial interstitial Xq27.3q2 ...... c mental retardation condition
@ast
Familial interstitial Xq27.3q2 ...... c mental retardation condition
@en
Familial interstitial Xq27.3q2 ...... c mental retardation condition
@nl
P2093
P2860
P50
P356
P1476
Familial interstitial Xq27.3q2 ...... c mental retardation condition
@en
P2093
Catherine Turleau
Ghislaine Royer
Marlène Rio
Michel Vekemans
Nicole Morichon-Delvallez
Sarah Boissel
Stéphanie Gobin
P2860
P2888
P304
P356
10.1038/EJHG.2009.159
P50
P577
2009-10-21T00:00:00Z