Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population.

scientific article published in January 2001

Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/1098-2272(200101)20:1<129::AID-GEPI11>3.0.CO;2-2
P698PubMed publication ID11119302

P2093author name stringGupta M
Sharma D
Thelma BK
P2860cites workVariation of the CGG repeat in FMR-1 gene in normal and fragile X Chinese subjects.Q51999055
Distribution of FMR-1 and associated microsatellite alleles in a normal Chinese population.Q52024857
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.Q52032643
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.Q52034632
Characterisation of a new rare fragile site easily confused with the fragile XQ52044126
Detection of full fragile X mutation.Q52045891
Population incidence and segregation ratios in the Martin-Bell syndrome.Q52080137
Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities.Q52200256
A survey of FRAXE allele sizes in three populations.Q52200257
Prenatal diagnosis and carrier screening for fragile X by PCR.Q52200609
Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG islandQ24324761
FRAXE and mental retardationQ24517881
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradoxQ28235115
Dynamic mutation: possible mechanisms and significance in human diseaseQ28256437
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromeQ28273791
Guidelines for the diagnosis of fragile X syndrome. National Fragile X FoundationQ33595334
Population studies of the fragile X: a molecular approachQ33595415
Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs populationQ34388858
Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutateQ36756225
Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implicationsQ40523653
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndromeQ44959699
Population genetics of the FRAXE and FRAXF GCC repeats, and a novel CGG repeat, in Xq28.Q45295470
Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs populationQ46450570
Prevalence of fragile-X syndrome and FRAXE among children with intellectual disability in a Caribbean island, Guadeloupe, French West IndiesQ46711703
Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardationQ50928572
Frequency of the fragile X syndrome in Chinese mentally retarded populations is similar to that in Caucasians.Q51984692
Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles.Q51996767
P433issue1
P921main subjectIndiaQ668
P304page(s)129-144
P577publication date2001-01-01
P1433published inGenetic EpidemiologyQ5532864
P1476titleExpansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population.
P478volume20

Reverse relations

cites work (P2860)
Q51963432Analysis of FMR1 (CGG)(n) alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia.
Q34515728Are common fragile sites merely structural domains or highly organized "functional" units susceptible to oncogenic stress?
Q35875408Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka
Q38351697Distribution of CGG repeat sizes within the fragile X mental retardation 1 (FMR1) homologue in a non-human primate population
Q34362009FMR1 and the fragile X syndrome: human genome epidemiology review
Q73024569FMR1 haplotype analyses among Indians: a weak founder effect and other findings
Q51927334FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.
Q24629837Fragile X syndrome: the FMR1 CGG repeat distribution among world populations
Q44959891Genetic counseling and prenatal diagnosis in India--experience at Sir Ganga Ram Hospital.
Q36132963Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study
Q51874487Prevalence of the fragile X syndrome among Estonian mentally retarded and the entire children's population.
Q39081888Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India
Q36239035X linked mental retardation: a clinical guide

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