Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms.
about
Unstable mutations in the FMR1 gene and the phenotypesRepeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disordersAdvanced technologies for the molecular diagnosis of fragile X syndromeEvidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and pubertIntermediate FMR1 alleles and cognitive and/or behavioural phenotypes.Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study.Fragile X syndrome: an overview and update of the FMR1 gene.Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions.Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.
P2860
Q26996649-2176E337-2F1A-4BCD-8844-BBB94B3921D2Q27011565-F1104BA1-8B92-4F19-986A-2E6766BD6DBFQ28087781-D9CFEAC2-C092-4930-932C-A7F6FC5D06F7Q33617809-16E745AB-360B-4287-93E4-C652323FE64AQ33926696-E6784767-C17F-4F14-9108-3F44F9B71BBBQ34544358-6515C823-D7C2-47A2-9AB1-CF129DFD848FQ35212704-54A1C3D7-7CD1-4800-80C0-9F3936FF3D55Q36132963-BB3B5AFD-4957-4CE5-835F-4AE128005B80Q39375765-FFC44FC3-C393-4A69-A77E-A3846A2B2528Q46018564-42DC4DBC-EA5E-412B-9348-788115AA3BF8Q47874718-6A48C047-D375-4A50-86DB-BCB6D0EEEA2FQ50749236-C1F98CB8-8988-4FEE-BAB4-AB253002F6EA
P2860
Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Linking the FMR1 alleles with ...... ment of epigenetic mechanisms.
@en
Linking the FMR1 alleles with ...... ment of epigenetic mechanisms.
@nl
type
label
Linking the FMR1 alleles with ...... ment of epigenetic mechanisms.
@en
Linking the FMR1 alleles with ...... ment of epigenetic mechanisms.
@nl
prefLabel
Linking the FMR1 alleles with ...... ment of epigenetic mechanisms.
@en
Linking the FMR1 alleles with ...... ment of epigenetic mechanisms.
@nl
P2093
P2860
P356
P1476
Linking the FMR1 alleles with ...... ment of epigenetic mechanisms.
@en
P2093
Danuta Z Loesch
Emma Gould
Flora Tassone
Freya Gehling
Howard Slater
K H Andy Choo
Mahmoud Khaniani
Richard Huggins
Trent Burgess
P2860
P304
P356
10.1002/AJMG.A.32990
P407
P577
2009-10-01T00:00:00Z