X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.
about
The William Allan Memorial Award address: human population cytogenetics: the first twenty-five yearsRepeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disordersFragile X syndrome: A review of clinical managementA chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage responseFragile X mental retardation protein has a unique, evolutionarily conserved neuronal function not shared with FXR1P or FXR2PA mouse model of the human Fragile X syndrome I304N mutation.The fragile X: progress toward solving the puzzleClinical and molecular studies in fragile X patients with a Prader-Willi-like phenotypeNeurological findings in patients with the fragile-X syndrome.Fragile (X)(q27) sites in a pedigree with female carriers showing mild to severe mental retardationFragile X chromosome: clinical and cytogenetic studies on cases from seven families.Fragile X trait in a large kindred: transmission also through normal males.The fragile X syndrome: the patients and their chromosomes.Sotos syndrome: a study of the diagnostic criteria and natural history.The fragile X syndrome in a large family. I. Cytogenetic and clinical investigations.DNA testing for fragile X syndrome: implications for parents and family.Fragile X syndrome: an important preventable cause of mental handicap.Fragile X-linked mental retardation of macro-orchidism.X chromosome abnormalities and cognitive development: implications for understanding normal human development.Severe mental handicap: pathogenesis, treatment, and preventionThe FMR1 gene and fragile X-associated tremor/ataxia syndrome.Fragile (X) X-linked mental retardation. II. Frequency and replication pattern of fragile (X)(q28) in heterozygotesA strategy to reveal high-frequency RFLPs along the human X chromosomeFragile (X) expression induced by FUdR is transient and inversely related to levels of thymidylate synthase activity.A comparison of fragile X expression in lymphocyte and lymphoblastoid cultures.FUdR induction of the X chromosome fragile site: evidence for the mechanism of folic acid and thymidine inhibitionExpression of the marker (X) (q28) in lymphoblastoid cell linesAdditional evidence for fragile X activity in heterozygous carriers.Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotypeIs it possible to make a clinical diagnosis of the fragile X syndrome in a boy?Fragile X chromosome and X-linked mental retardation.Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia.Language phenotypes and intervention planning: bridging research and practiceLimbic epileptogenesis in a mouse model of fragile X syndrome.Fragile X syndrome and epilepsy.Perspectives in Pediatric Pathology, Chapter 15. Macrorchidism as the Expression of Several Congenital and Acquired Pathologies.Intelligence and cognitive profile in the fra(X) syndrome: a longitudinal study in 18 fra(X) boys.Intracellular folate distribution in cultured fibroblasts from patients with the fragile X syndrome.Fragile X syndrome in humans and mice.Fragile-X syndrome: a particular epileptogenic EEG pattern.
P2860
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P2860
X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.
description
1980 nî lūn-bûn
@nan
1980年の論文
@ja
1980年論文
@yue
1980年論文
@zh-hant
1980年論文
@zh-hk
1980年論文
@zh-mo
1980年論文
@zh-tw
1980年论文
@wuu
1980年论文
@zh
1980年论文
@zh-cn
name
X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.
@ast
X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.
@en
type
label
X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.
@ast
X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.
@en
prefLabel
X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.
@ast
X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.
@en
P2093
P1476
X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.
@en
P2093
P304
P356
10.1016/S0022-3476(80)80552-X
P407
P577
1980-05-01T00:00:00Z