Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.
about
Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disordersAdvanced technologies for the molecular diagnosis of fragile X syndromeGenetic anticipation and musculoskeletal diseaseDoes genetic anticipation occur in familial rheumatoid arthritis?Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree.Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity.Testing the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome.Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.Fragile X syndrome. Molecular and clinical insights and treatment issuesClinical and molecular implications of mosaicism in FMR1 full mutations.Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation conditionPrevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.Age-dependent decrease and alternative splicing of methionine synthase mRNA in human cerebral cortex and an accelerated decrease in autismHypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiencyEvidence for genetic anticipation in nodal osteoarthritis.Quantitative comparison of FMR1 gene expression in normal and premutation allelesPopulation dynamics of a meiotic/mitotic expansion model for the fragile X syndromeA multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature.Methotrexate treatment of FraX fibroblasts results in FMR1 transcription but not in detectable FMR1 protein levels.Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus.The FMR1 promoter is selectively hydroxymethylated in primary neurons of fragile X syndrome patients.The high prevalence of fragile X premutation carrier females: is this frequency unique to the French Canadian population?Size and methylation mosaicism in males with Fragile X syndrome.Haplotype Analysis of DXS548 and FRAXAC1 Microsatellite Loci in Iranian Patients with Fragile X Syndrome.Fragile X syndromeFXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the Gene
P2860
Q27011565-E2A55C9B-4061-441B-B668-7233B6865088Q28087781-2BFD2185-6B10-4346-955D-54235BD1F3D8Q33566842-818A0DA2-B85E-49E9-A507-ADE1066832C0Q33566875-746F45FE-EB9F-4419-894C-B5904FE0555BQ33678120-EBDDABB5-DD42-4620-A095-FE8F36D8FAA8Q33680162-823DC76F-6C6A-4B30-9A0A-E1CA6ECAAB87Q33682842-6176733F-F0B6-4FCA-B490-3CF67A912E34Q33897004-ED3108E4-1491-42C1-82D8-A47EF12BF754Q34016335-C28E0E5B-1974-458D-9381-287FCE4C6310Q34145956-081B2186-A17B-49AB-B2ED-FEE895C437DBQ34167443-424D5D41-AF60-4ACE-B9B3-C37DB0168A39Q34185158-310A2EB4-4A23-48F9-90B9-34599F27458DQ34198878-3B7C3C0D-4D61-4E16-9496-0F7930228E1AQ34328657-3F70B3A8-4709-4674-9E0B-20201CC50624Q34388858-B02ADCD6-EF66-4014-A80D-AC4DE176D4F3Q34599738-36DA8F12-4367-4197-AB26-A68903E99F0FQ34810486-A9803D8A-4BEC-4A57-A5F9-6F07F3982941Q35230078-0751E04F-F442-44FD-BB87-BC1A8F792084Q35548147-4EF41739-EFF6-451D-A587-D121DA939AB0Q35643830-E36A064F-2BD0-4E9E-A2FF-1A5EC52CC963Q35644120-69990373-2943-4B72-9F39-1B75488E01A1Q35889635-3A65DC99-6B20-42AB-A246-33A76BCF9037Q37120607-BB710698-C1C1-4E46-A5CE-39DB5DE529CFQ37356074-BE4F09EA-0A11-48CF-8B8E-4851E452E4E2Q37448481-A35739E7-C5A9-4F85-85A9-970456372209Q38760301-28BC3B8D-E0F8-41D0-8FEB-1C2F9E25EF84Q42951074-E3A5D712-3ECB-4602-A20A-52A1B9570976Q46006405-873D77BD-864D-4B72-BCA2-EE47B75374E1Q47550933-92397D91-114B-4D0E-8DC5-2EF1525CE805Q56091828-371CE3F2-B182-4827-9440-1F903C5BCC30Q59137486-058622F2-8E89-4E9C-87A5-F53D3A37411C
P2860
Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.
description
1993 nî lūn-bûn
@nan
1993 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Evidence that methylation of t ...... ion of the fragile X syndrome.
@ast
Evidence that methylation of t ...... ion of the fragile X syndrome.
@en
type
label
Evidence that methylation of t ...... ion of the fragile X syndrome.
@ast
Evidence that methylation of t ...... ion of the fragile X syndrome.
@en
prefLabel
Evidence that methylation of t ...... ion of the fragile X syndrome.
@ast
Evidence that methylation of t ...... ion of the fragile X syndrome.
@en
P2093
P2860
P1476
Evidence that methylation of t ...... sion of the fragile X syndrome
@en
P2093
A M Lachiewicz
A McConkie-Rosell
G A Spiridigliozzi
J Tarleton
M C Phelan
P Goonewardena
S Schoenwald
P2860
P304
P407
P577
1993-10-01T00:00:00Z