Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria - Wikidata - awgldk - TriplyDB

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

http://www.wikidata.org/entity/Q28293292

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13-year-old tuberous sclerosis patient with renal cell carcinoma associated with multiple renal angiomyolipomas developing multifocal micronodular pneumocyte hyperplasia Tuberous sclerosis diagnosed by incidental computed tomography findings of multifocal micronodular pneumocyte hyperplasia: a case report Brain functional networks in syndromic and non-syndromic autism: a graph theoretical study of EEG connectivity.Rhabdomyomas and tuberous sclerosis complex: our experience in 33 cases Rapamycin and its analogues (rapalogs) for tuberous sclerosis complex The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.Subependymal Giant Cell Astrocytoma (SEGA) Treatment Update Serum vascular endothelial growth factor-D prospectively distinguishes lymphangioleiomyomatosis from other diseases Mesenchymal-epithelial interactions involving epiregulin in tuberous sclerosis complex hamartomas MCP-1 overexpressed in tuberous sclerosis lesions acts as a paracrine factor for tumor development.Rapamycin and rapalogs for tuberous sclerosis complex Tuberin phosphorylation regulates its interaction with hamartin. Two proteins involved in tuberous sclerosis Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference Differential cellular expression of neurotrophins in cortical tubers of the tuberous sclerosis complex Ophthalmic manifestations of tuberous sclerosis: a population based study Multicenter phase 2 trial of sirolimus for tuberous sclerosis: kidney angiomyolipomas and other tumors regress and VEGF- D levels decrease Loss of tuberin, the tuberous-sclerosis-complex-2 gene product is associated with angiogenesis Ophthalmic manifestations of tuberous sclerosis: a review.Refractive errors and strabismus in children with tuberous sclerosis: a controlled study.Hereditary genodermatoses with cancer predisposition Endocrine tumours in neurofibromatosis type 1, tuberous sclerosis and related syndromes Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex.Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions Diffusion tensor imaging and related techniques in tuberous sclerosis complex: review and future directions.Abnormal sudomotor function in the hypomelanotic macules of tuberous sclerosis complex.Brain abnormalities in tuberous sclerosis complex.Clinical presentation and diagnosis of tuberous sclerosis complex in infancy.Selective alterations in glutamate and GABA receptor subunit mRNA expression in dysplastic neurons and giant cells of cortical tubers.The 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.Mucocutaneous changes in tuberous sclerosis complex: a clinical profile of 27 Indian patients TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review Prenatally Diagnosis and Outcome of Fetuses with Cardiac Rhabdomyoma - Single Centre Experience.CT of sclerotic bone lesions: imaging features differentiating tuberous sclerosis complex with lymphangioleiomyomatosis from sporadic lymphangioleiomymatosis Diffusion features of white matter in tuberous sclerosis with tractography Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.The genomic landscape of tuberous sclerosis complex

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P2860

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

http://www.wikidata.org/entity/Q28293292

description

1998 nî lūn-bûn

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1998 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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1998 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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1998年の論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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1998年论文

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name

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

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Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

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Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

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type

label

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

@ast

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

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Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

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prefLabel

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

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Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

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Journal of Child Neurology

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Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

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E S Roach

http://www.w3.org/2001/XMLSchema#string

H Northrup

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M R Gomez

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P2860

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

Identification and characterization of the tuberous sclerosis gene on chromosome 16

Focal neuronal migration disorders and intractable partial epilepsy: a study of 30 patients.

Variability of expression in tuberous sclerosis.

Renal angiomyolipoma in association with pulmonary lymphangioleiomyomatosis: forme fruste of tuberous sclerosis?

Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis.

Diagnostic criteria: tuberous sclerosis complex. Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association.

Cutaneous tumors in patients with multiple endocrine neoplasia type 1 show allelic deletion of the MEN1 gene.

First-meiotic-division nondisjunction in human oocytes.

Incidence of hepatic hamartomas in tuberous sclerosis.

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