Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis
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Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organsAbnormal growth of smooth muscle-like cells in lymphangioleiomyomatosis: Role for tumor suppressor TSC2Hypoxia-inducible factor-1alpha polymorphisms and TSC1/2 mutations are complementary in head and neck cancersResponse and acquired resistance to everolimus in anaplastic thyroid cancerLeft-right asymmetry in the light of TOR: An update on what we know so farGenome at juncture of early human migration: a systematic analysis of two whole genomes and thirteen exomes from Kuwaiti population subgroup of inferred Saudi Arabian tribe ancestry.Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesionsThe spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis.Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex.TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a reviewUltra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis.Missense mutations to the TSC1 gene cause tuberous sclerosis complex.Molecular genetic basis of tuberous sclerosis complex: from bench to bedside.The neural crest lineage as a driver of disease heterogeneity in Tuberous Sclerosis Complex and Lymphangioleiomyomatosis.Giant Cell Astrocytoma of the Retina in a 1-Month-Old InfantMolecular nature of 11 spontaneous de novo mutations in Drosophila melanogaster.Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicismA patient with TSC1 germline mutation whose clinical phenotype was limited to lymphangioleiomyomatosis.Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex and a literature review of 20 patients reported in China.Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2Tuberous sclerosis complex and epilepsy: recent developments and future challenges.Comparison of Color Fundus Photography, Infrared Fundus Photography, and Optical Coherence Tomography in Detecting Retinal Hamartoma in Patients with Tuberous Sclerosis Complex.Clinical response to everolimus in a patient with Hodgkin's lymphoma harboring a TSC2 mutationDistinct clinical characteristics of tuberous sclerosis complex patients with no mutation identifiedGenetics and molecular biology of tuberous sclerosis complex.A case of systemic lupus erythematosus with multiple nodules in the bilateral lungs and vertebrae.Transgenic expression of the N525S-tuberin variant in Tsc2 mutant (Eker) rats causes dominant embryonic lethality.TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex.Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.Early manifestations of renal disease in patients with tuberous sclerosis complex.The economic burden of tuberous sclerosis complex in UK patients with renal manifestations: a retrospective cohort study in the clinical practice research datalink (CPRD).The economic burden of tuberous sclerosis complex in the UK: A retrospective cohort study in the Clinical Practice Research Datalink.Critical role of T-loop and H-motif phosphorylation in the regulation of S6 kinase 1 by the tuberous sclerosis complex.Understanding the health economic burden of patients with tuberous sclerosis complex (TSC) with epilepsy: a retrospective cohort study in the UK Clinical Practice Research Datalink (CPRD).Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported.
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P2860
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis
description
1999 nî lūn-bûn
@nan
1999 թուականին հրատարակուած գիտական յօդուած
@hyw
1999 թվականին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Analysis of both TSC1 and TSC2 ...... tients with tuberous sclerosis
@ast
Analysis of both TSC1 and TSC2 ...... tients with tuberous sclerosis
@en
Analysis of both TSC1 and TSC2 ...... tients with tuberous sclerosis
@nl
type
label
Analysis of both TSC1 and TSC2 ...... tients with tuberous sclerosis
@ast
Analysis of both TSC1 and TSC2 ...... tients with tuberous sclerosis
@en
Analysis of both TSC1 and TSC2 ...... tients with tuberous sclerosis
@nl
prefLabel
Analysis of both TSC1 and TSC2 ...... tients with tuberous sclerosis
@ast
Analysis of both TSC1 and TSC2 ...... tients with tuberous sclerosis
@en
Analysis of both TSC1 and TSC2 ...... tients with tuberous sclerosis
@nl
P2093
P2860
P3181
P1433
P1476
Analysis of both TSC1 and TSC2 ...... tients with tuberous sclerosis
@en
P2093
N Lawrence-Smith
R L Beauchamp
P2860
P304
P3181
P356
10.1002/(SICI)1098-1004(199911)14:5<412::AID-HUMU7>3.0.CO;2-K
P407
P577
1999-01-01T00:00:00Z