about
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) geneRenpenning syndrome maps to Xp11.Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X SyndromeAdvances in the Understanding of the Gabaergic Neurobiology of FMR1 Expanded Alleles Leading to Targeted Treatments for Fragile X Spectrum DisorderDysregulation and restoration of translational homeostasis in fragile X syndromeFragile X spectrum disordersUnstable mutations in the FMR1 gene and the phenotypesThe unstable repeats--three evolving faces of neurological diseaseFragile X and X-linked intellectual disability: four decades of discoveryFragile X syndrome: A review of clinical managementStudy of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 GeneThe fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiologyProgress toward therapeutic potential for AFQ056 in Fragile X syndrome.Ras and Rap signaling in synaptic plasticity and mental disorders.Two progenitor cells for human oogonia inferred from pedigree data and the X-inactivation imprinting model of the fragile-X syndromeFragile X syndrome: a review of clinical and molecular diagnoses.Familial X-linked mental retardation with an X chromosome abnormality.Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotypeGenotype prediction in the fragile X syndrome.The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation.Fragile X chromosome: clinical and cytogenetic studies on cases from seven families.Chromosomal breakage in normal and fragile X subjects using low folate culture conditions.The fragile X syndrome: the patients and their chromosomes.Deleted X chromosomes in patients with the fragile X syndrome.Frequency and replication status of the fragile X, fra(X)(q27-28), in a pair of monozygotic twins of markedly differing intelligenceA community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology.FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.Fragile X syndrome: a major cause of X-linked mental retardationEpilepsy and chromosomal abnormalities.Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardationFragile X-linked mental retardation of macro-orchidism.A combination of ascorbic acid and α-tocopherol to test the effectiveness and safety in the fragile X syndrome: study protocol for a phase II, randomized, placebo-controlled trialMendelian Inheritance in Man and its online version, OMIMFruit flies and intellectual disability.Severe mental handicap: pathogenesis, treatment, and preventionToward fulfilling the promise of molecular medicine in fragile X syndromeThe FMR1 gene and fragile X-associated tremor/ataxia syndrome.A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.Replication patterns of the fragile X in heterozygous carriers: analysis by a BrdUrd antibody method.
P2860
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P2860
description
1969 nî lūn-bûn
@nan
1969 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1969 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1969年の論文
@ja
1969年論文
@yue
1969年論文
@zh-hant
1969年論文
@zh-hk
1969年論文
@zh-mo
1969年論文
@zh-tw
1969年论文
@wuu
name
A marker X chromosome
@ast
A marker X chromosome
@en
A marker X chromosome
@nl
type
label
A marker X chromosome
@ast
A marker X chromosome
@en
A marker X chromosome
@nl
prefLabel
A marker X chromosome
@ast
A marker X chromosome
@en
A marker X chromosome
@nl
P2860
P3181
P1476
A marker X chromosome
@en
P2093
P2860
P304
P3181
P407
P577
1969-05-01T00:00:00Z