Testing for fragile X gene mutations throughout the life span.
about
Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disordersAssociation of FMR1 genotypes with in vitro fertilization (IVF) outcomes based on ethnicity/raceFragile X: a family of disorders.Polymerase chain reaction, nuclease digestion, and mass spectrometry based assay for the trinucleotide repeat status of the fragile X mental retardation 1 gene.Association of skewed X-chromosome inactivation with FMR1 CGG repeat length and anti-Mullerian hormone levels: a cohort study.Broad clinical involvement in a family affected by the fragile X premutation.High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.Prevalence, nature, and correlates of sleep problems among children with fragile X syndrome based on a large scale parent survey.An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutationDistribution and frequency of intranuclear inclusions in female CGG KI mice modeling the fragile X premutationA novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis.
P2860
Q27011565-B53B07C6-FB55-4847-9178-4585AA5B6BDCQ28740984-2D5A01E9-88F5-410A-9CCF-232B106EE4A9Q30479991-7ED56D54-4E31-448E-9AA6-9463F269967FQ33465181-A702B632-A07D-45EC-81EC-5DC5CC67E6ABQ33617701-B18E6FC5-22D2-423E-BED0-A8247F539DE0Q33656457-E848D8F6-2A17-431B-B04F-9A52673B69E5Q33706961-4FBE1BFF-4C01-4893-8B12-D1B103B1CF7AQ33830944-804BF96F-B661-4F72-95F2-40197268E03BQ34084834-4F1AC3A2-DC36-4EC1-ABA9-98CF6C50CBCFQ35047721-B7351F51-F695-41FA-ADCB-5CEEC35651B0Q36611172-CE22DE9F-BA30-4B67-AAC0-654986B0EA35Q37415441-24EFA521-5BE6-4CEC-BF8F-A2E5F0D976A6
P2860
Testing for fragile X gene mutations throughout the life span.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Testing for fragile X gene mutations throughout the life span.
@en
Testing for fragile X gene mutations throughout the life span.
@nl
type
label
Testing for fragile X gene mutations throughout the life span.
@en
Testing for fragile X gene mutations throughout the life span.
@nl
prefLabel
Testing for fragile X gene mutations throughout the life span.
@en
Testing for fragile X gene mutations throughout the life span.
@nl
P2860
P356
P1476
Testing for fragile X gene mutations throughout the life span.
@en
P2093
Paul J Hagerman
Randi J Hagerman
P2860
P304
P356
10.1001/JAMA.2008.684
P407
P577
2008-11-01T00:00:00Z