Population incidence and segregation ratios in the Martin-Bell syndrome.

scientific article published in January 1986

Population incidence and segregation ratios in the Martin-Bell syndrome. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/AJMG.1320230151
P698PubMed publication ID3953667

P2093author name stringTodd J
Bundey SE
Thake AI
Webb TP
P433issue1-2
P921main subjectfragile X syndromeQ221472
P304page(s)573-580
P577publication date1986-01-01
P1433published inAmerican Journal of Medical Genetics Part AQ15755121
P1476titlePopulation incidence and segregation ratios in the Martin-Bell syndrome.
P478volume23

Reverse relations

cites work (P2860)
Q42220824A 15-item checklist for screening mentally retarded males for the fragile X syndrome
Q48063954A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males
Q34733385A developmental approach to understanding Fragile X syndrome in females
Q45946062A fragile X female with Down syndrome.
Q33676017A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci
Q71867820An association between precocious puberty and fragile X syndrome?
Q35644285An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene
Q41059570Annotation: behavioural phenotypes: a window onto the biology of behaviour
Q42035133Anthropometric and craniofacial patterns in mentally retarded males with emphasis on the fragile X syndrome
Q52047302Association of the Robin sequence with the fragile X syndrome
Q40892066Brief report: low frequency of the fragile X syndrome among Japanese autistic subjects
Q42131201Cardiac abnormalities in the fragile X syndrome
Q28270283Characterization and localization of the FMR-1 gene product associated with fragile X syndrome
Q33595787Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype
Q37456443Current developments in the understanding of mental retardation. Part I: Biological and phenomenological perspectives
Q38354157Deletion in the FMR1 gene in a fragile-X male
Q72253503Diagnosis of fragile X syndrome by direct mutation analysis
Q34352411Direct detection of novel expanded trinucleotide repeats in the human genome
Q38986043Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection
Q41647578Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics
Q51971383Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population.
Q50303294Facial emotion identification in males with fragile X syndrome
Q24801535Facile FMR1 mRNA structure regulation by interruptions in CGG repeats
Q52030169Fragile X (Martin-Bell) syndrome.
Q50307602Fragile X in female autistic twins
Q35625959Fragile X mental retardation
Q68155815Fragile X syndrome
Q72298737Fragile X syndrome
Q73691116Fragile X syndrome
Q41167683Fragile X syndrome in humans and mice
Q52243201Fragile X syndrome--an important cause of mental retardation.
Q34073910Fragile X syndrome: an important preventable cause of mental handicap
Q41976045General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation
Q40585513Genetic anticipation. Expanding tandem repeats.
Q41328270Genetic disorders associated with overgrowth
Q52074686Genetic heterogeneity of X-linked mental retardation with fragile X. Association of tight linkage to factor IX and incomplete penetrance in males.
Q71578944Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations
Q51996767Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles.
Q69370692Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome
Q33590125Isolation of the human chromosomal band Xq28 within somatic cell hybrids by fragile X site breakage
Q52034009KH domains within the FMR1 sequence suggest that fragile X syndrome stems from a defect in RNA metabolism
Q35197242Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304).
Q41346550Linkage heterogeneity and fragile X.
Q35247649Linkage studies in a large fragile X family
Q33223604Long-range walking techniques in positional cloning strategies
Q45210434Mapping of a new RFLP marker RN1 (DXS369) close to the fragile site FRAXA on Xq27-q28.
Q68019503Medical genetics
Q42220809Metacarpophalangeal pattern profile analysis in fragile X syndrome
Q57304771Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families
Q33537385Molecular and cellular genetics of fragile X syndrome
Q40873957Molecular genetic advances in fragile X syndrome
Q33756485Molecular genetic analysis of mentally retarded males with features of the fragile-X syndrome
Q41677828New distal marker closely linked to the fragile X locus
Q38238174Perspectives in Pediatric Pathology, Chapter 15. Macrorchidism as the Expression of Several Congenital and Acquired Pathologies
Q38300690Plastic microchip electrophoresis for genetic screening: the analysis of polymerase chain reactions products of fragile X (CGG)n alleles
Q38326364Polymerase chain reaction analysis of fragile X mutations
Q51874487Prevalence of the fragile X syndrome among Estonian mentally retarded and the entire children's population.
Q69217845Prevalence of the fragile X syndrome in four birth cohorts of children of school age
Q51971845Rapid analysis of CGG repeat length in the FMR1 gene.
Q37966441Rett syndrome and the autistic disorders.
Q35249493Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group
Q41579814Screening for fragile X syndrome: information needs for health planners
Q35625200Survey of adolescents with severe intellectual handicap
Q70187271Ten families with fragile X syndrome: linkage relationships with four DNA probes from distal Xq
Q42591469The FRAXE Syndrome: is it time for routine screening?
Q57591562The KH module has an αβ fold
Q35644289The fragile X premutation in carriers and its effect on mutation size in offspring
Q69487914The fragile X syndrome
Q36265695The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation
Q33347811The fragile X: progress toward solving the puzzle
Q33596305The impact of genetic counselling on females in fragile X families
Q36779254The neurobiology and genetics of infantile autism
Q48351859Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome
Q52230051Use of a molecular genetic approach to diagnosing the fragile X genotype.
Q28235115Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
Q35196563Why are autism and the fragile-X syndrome associated? Conceptual and methodological issues
Q73013123X-linked mental retardation

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