Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.
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FMRP Expression Levels in Mouse Central Nervous System Neurons Determine Behavioral Phenotype.Low-normal FMR1 CGG repeat length: phenotypic associations.Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with fragile X syndrome: case report.Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.FMRP regulates neurogenesis in vivo in Xenopus laevis tadpoles.Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.FMR1 genotype interacts with parenting stress to shape health and functional abilities in older age.
P2860
Q30365865-FBB1A4E9-DBF9-461E-B88D-686481B726B0Q34153985-78340435-E47C-4EE0-94E4-4E0507DCA5DEQ35447154-F444D3B6-4BA0-4D4B-9CF6-5A1A93AAF937Q37687732-6A8919FE-D91A-4BC0-A58E-6D2CC339FB28Q41112966-A8E78ED5-8A4B-4096-B52A-BCDDC1EADDF8Q41331099-4E2841A0-55F2-4783-9975-7E4769AC6A4BQ47748992-F515F59B-1CA3-4CFE-8CB8-C72946CC1A4F
P2860
Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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name
Small genomic rearrangements i ...... ormal neurocognitive function.
@en
Small genomic rearrangements i ...... ormal neurocognitive function.
@nl
type
label
Small genomic rearrangements i ...... ormal neurocognitive function.
@en
Small genomic rearrangements i ...... ormal neurocognitive function.
@nl
prefLabel
Small genomic rearrangements i ...... ormal neurocognitive function.
@en
Small genomic rearrangements i ...... ormal neurocognitive function.
@nl
P2093
P2860
P1433
P1476
Small genomic rearrangements i ...... ormal neurocognitive function.
@en
P2093
Ankita Patel
Ayelet Erez
David Nelson
Frank J Probst
Linda A Baker
Patricia Bader
Patricia Evans
Patricia Hixson
Pawel Stankiewicz
P2860
P2888
P304
P356
10.1007/S10048-012-0340-Y
P577
2012-08-14T00:00:00Z