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Fragile X syndrome: the FMR1 CGG repeat distribution among world populationsMapping of an origin of DNA replication in the promoter of fragile X gene FMR1Fragile X spectrum disordersUnstable mutations in the FMR1 gene and the phenotypesDevelopment of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion MutationsIn the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.FMR1 CGG allele size and prevalence ascertained through newborn screening in the United StatesIntermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failureIn search of the MRX genes.FMR1 and the fragile X syndrome: human genome epidemiology reviewGenetic effects on human cognition: lessons from the study of mental retardation syndromesDevelopment and validation of a multiplex-PCR assay for X-linked intellectual disability.The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.Absence of metabotropic glutamate receptor-mediated plasticity in the neocortex of fragile X mice.Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.The effect of an mGluR5 inhibitor on procedural memory and avoidance discrimination impairments in Fmr1 KO mice.Decreased nociceptive sensitization in mice lacking the fragile X mental retardation protein: role of mGluR1/5 and mTORTranscript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers.Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes.Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range.Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.Haplotypic determinants of instability in the FRAX region: Concatenated mutation or founder effect?Prevalence of the fragile X syndrome in African-Americans.Klinefelter syndrome: expanding the phenotype and identifying new research directions.Most Martin-Bell syndrome (FMR1-related disorder) Venezuelan patients did not show CGG expansion but instead display genetic heterogeneity.A new PCR assay useful for screening of FRAXE/FMR2 mental impairment among males.Allelic association with SNPs: metrics, populations, and the linkage disequilibrium map.Cognitive and behavioral performance among FMR1 high-repeat allele carriers surveyed from special education classes.Investigating the relationship between FMR1 allele length and cognitive ability in children: a subtle effect of the normal allele range on the normal ability range?An investigation of FRAXA intermediate allele phenotype in a longitudinal sample.Autism spectrum disorder: FRAXE mutation, a rare etiology.Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms.Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.EEG neurofeedback for executive functions in children with neurodevelopmental challenges
P2860
Q24629837-65C1561B-ABC2-43FA-B0BD-938C7C59B040Q24683661-82F9935C-EBD3-4865-A596-809AE9153CD0Q26824376-F21D6D49-BC45-4B7B-9F17-312680CA5998Q26996649-AB746050-2508-4CF6-B1A2-E24C7F1B0B7AQ28073062-601B7B57-0D1B-4860-86F1-B4F2D20A3FB2Q33728963-01F001BB-5BF0-4B06-8B02-32119BA2E274Q33758819-576A0FBA-6578-4CF7-837D-88EDDC6A1E09Q33781086-79657E2E-223F-4A01-8A92-1580C620C82CQ33787119-6A3037FA-0926-4B2D-8F96-DA9DA020907AQ34306151-73EF6306-D571-4E73-8A9F-94C7754BF671Q34362009-602DCEAA-E0E9-40A0-8F7A-E76B2E4BEC3EQ34542327-66BC815D-1367-4462-8916-3C5CE545D4E1Q34893346-DF5EAD99-0D2A-4507-802B-64B052906189Q35170163-091EC626-56F0-436E-9BE5-297154D05AF9Q35212704-0CCEC5DF-3747-4133-943E-B9DC3E2C5DC9Q35844502-AEACAEA7-DFE7-4F6F-8F89-FDDAEFE41025Q35875408-BF528748-41D7-4BC5-9F6C-897F8E44C926Q36329311-B4C0EF12-D7BE-43DD-A44E-C1EFDD17DEB0Q36379639-851BD9EE-9A06-4274-9D5F-940A6D163580Q36392817-521D4BE6-9FE2-4248-B5A2-439F9AB1E680Q37004710-1967173C-D3A7-4260-A479-1D9267AA262CQ37050617-AACE3B9B-B7B1-488F-B507-645A8FD37B9BQ37194646-FA6AB92B-EDA6-4399-9217-DB6A7AEC9708Q37217477-65F9BF6D-711D-4AC6-AD14-68DD6785970CQ37373910-9FC0F643-BD97-48B3-B82F-C1C402D34FBDQ38622358-FBDB68A8-AC76-4F31-B977-6858888A8A93Q43961143-7FC2A5BA-4C0E-4E6C-A8B1-7767C802F6D7Q46936622-E9F00099-24C9-436B-A8C4-7363341E14ABQ47388441-4913AAF6-430F-4D47-A084-E2BEAD6B01B4Q47920957-CFE0FA80-1719-4750-9E8C-AD55A80652C9Q48353031-8A7F6D05-9666-41AC-913C-FE860628F4B0Q48370926-D3F412A3-4A68-44C5-BD08-971DD0CDE0E4Q48614683-92F22E6D-F421-4ABF-AFB5-693AEDB9F214Q50278166-3DCDA013-26AA-469D-BAFE-F627DE7FFC94Q50278621-96401F76-4FEB-4593-9A9A-7862BB866387Q50305806-ABB5F070-4143-47DF-8778-A15EECFF3154Q51926110-A9CE4171-8DDC-48F5-B4C9-03EB38F03E75Q52618070-B6F0CAD9-861D-4837-AE65-0AB38CBA9F98Q55054636-9BC0871F-2931-4C8B-9B26-017821390B59Q56526757-3A5DF715-9EBB-462B-B933-4DA56782373E
P2860
description
2000 nî lūn-bûn
@nan
2000 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
FRAXA and FRAXE: the results of a five year survey.
@ast
FRAXA and FRAXE: the results of a five year survey.
@en
type
label
FRAXA and FRAXE: the results of a five year survey.
@ast
FRAXA and FRAXE: the results of a five year survey.
@en
prefLabel
FRAXA and FRAXE: the results of a five year survey.
@ast
FRAXA and FRAXE: the results of a five year survey.
@en
P2093
P2860
P356
P1476
FRAXA and FRAXE: the results of a five year survey.
@en
P2093
McKechnie N
Sharrock A
Youings SA
P2860
P304
P356
10.1136/JMG.37.6.415
P407
P577
2000-06-01T00:00:00Z