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Mutation / Genodermatoses / Tuberous sclerosis / TSC1 / Angiomyolipoma / TSC2 / Microsatellite / Point mutation / Frameshift mutation / Biology / Genetics / Medicine


Am. J. Hum. Genet. 64:1305–1315, 1999 Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis Alistair C. Jones, Magitha M. Shyamsundar, Meinir W. Thomas,
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Document Date: 2013-04-01 18:39:16

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City

York / Oxford / Mannheim / Cardiff / /

Company

Idziaszczyk SA / GenBank / Amersham / Raven Press / Tuberous Sclerosis Collaborative Group / Menon AG / Knudson AG / Fryer AE / Wilson / /

Country

United Kingdom / Scotland / /

Currency

pence / USD / /

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Facility

University of Wales College / Institute of Medical Genetics / University Hospital / Jeremy P. Cheadle Institute of Medical Genetics / /

IndustryTerm

gene product / /

MedicalCondition

severe tuberous sclerosis / TSC2-associated disease / JE / retinoblastoma / tuberous sclerosis hamartomas / angiomyolipoma / Cardiff Summary Introduction Tuberous sclerosis / pneumothorax / lymphangioleiomyomatosis / deletion syndrome / polycystic kidneys / clinically significant renal cystic disease / lung disease / renal cystic disease / disorder / Tuberous sclerosis / Tuberous Sclerosis Alistair C. Jones / attention-deficit disorder / familial and sporadic tuberous sclerosis / renal angiomyolipomas / tumor / angiomyolipomas / cancer / contiguous gene syndrome / disease / severe infantile polycystic kidney disease / kidney disease / lymphangiomyomatosis / TSC1- and TSC2-associated disease / putative tuberous sclerosis / autism / polycystic kidney disease / autosomal dominant disorder / Solitary cysts / autosomal dominant polycystic kidney disease / adjacent polycystic kidney disease / epilepsy / cystic disease / hamartomas / TSC1 disease / unilateral solitary cysts / associated hamartomas / adjacent autosomal dominant polycystic kidney disease / renal carcinogenesis / renal cysts / /

MedicalTreatment

amputation / /

Organization

Jeremy P. Cheadle Institute of Medical Genetics / TSC-family / American Society of Human Genetics / South Glamorgan Health Authority / References Ad Hoc Committee on Mutation / Institute of Medical Genetics / Medical Research Council / University of Wales College of Medicine / Tuberous Sclerosis Association / Ad Hoc Committee on Mutation Nomenclature / National Tuberous Sclerosis Association / University Hospital for Wales / Division of Medicine / /

Person

Shelley Idziaszczyk / Gold Polymerase (Cetus) / J. R. Sampson / Gilbert JR / Julian R. Sampson / Susan Tomkins / van den Ouweland / Julie Maynard / Ann Hum Genet / Wojciech Rychlik / /

Position

Short MP / Fisher / representative / /

Product

SJ / /

Technology

Electrophoresis / positional cloning / ultrasound / DNA Sequencing / genotype / gel electrophoresis / /

URL

http /

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