Genetic aspects of tuberous sclerosis in the west of Scotland.
about
Rhabdomyomas and tuberous sclerosis complex: our experience in 33 casesMutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organsComprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlationTuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus ConferenceReport of a critical recombination further narrowing the TSC1 region.Evidence for genetic heterogeneity in tuberous sclerosis.Variability of expression in tuberous sclerosis.Von Hippel-Lindau disease: a genetic study.The value of investigation for genetic counselling in tuberous sclerosis.Ascertainment and severity of Marfan syndrome in a Scottish population.Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.Evidence for population variation in TSC1 and TSC2 gene expressionThree independent mutations in the TSC2 gene in a family with tuberous sclerosis.Germ-line mosaicism in tuberous sclerosis: how common?High rate of mosaicism in tuberous sclerosis complex.TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex.Cardiac tumours in intrauterine life.Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.Twinning and mitotic crossing-over: some possibilities and their implications.Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.Recognition of tuberous sclerosis in adult women: delayed presentation with life-threatening consequences.Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features.Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphansImaging Manifestations of a Subependymal Giant Cell Astrocytoma in Tuberous SclerosisVariants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.Genetics and molecular biology of tuberous sclerosis complex.An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region.Non-penetrance in tuberous sclerosis.Complete inactivation of the TSC2 gene leads to formation of hamartomas.New research in tuberous sclerosis.Renal manifestations of tuberous sclerosis complex: patients' and parents' knowledge and routines for renal follow-up - a questionnaire study.Reproductive genetics and the aging male.Atypical Tuberous Sclerosis Complex presenting as familial renal cell carcinoma with leiomyomatous stroma.Parental age and risk of genetic syndromes predisposing to nervous system tumors: nested case-control study.
P2860
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P2860
Genetic aspects of tuberous sclerosis in the west of Scotland.
description
1989 nî lūn-bûn
@nan
1989 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
Genetic aspects of tuberous sclerosis in the west of Scotland.
@ast
Genetic aspects of tuberous sclerosis in the west of Scotland.
@en
type
label
Genetic aspects of tuberous sclerosis in the west of Scotland.
@ast
Genetic aspects of tuberous sclerosis in the west of Scotland.
@en
prefLabel
Genetic aspects of tuberous sclerosis in the west of Scotland.
@ast
Genetic aspects of tuberous sclerosis in the west of Scotland.
@en
P2093
P2860
P1476
Genetic aspects of tuberous sclerosis in the west of Scotland.
@en
P2093
P2860
P407
P577
1989-01-01T00:00:00Z