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Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America

forfatter

Peter L Choyke

udgivet i: American Journal of Human Genetics

dato for udgivelse: 2003-05-22

sprog: engelsk

main subject: leiomyomatosis, hereditary leiomyomatosis and renal cell cancer syndrome

Cites articles 31

Date

Titel

Forfattere

2002-03-20

BLAT—The BLAST-Like Alignment Tool
2002-02-25

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

Lauri Aaltonen, Kristiina Aittomäki, Rainer Lehtonen, David P. Kelsell, Richard Houlston, Simon Olpin, Auli Karhu, Ian Tomlinson, Andrew Rowan, Shamima Rahman
2002-04-01

Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome

Stephen M. Hewitt
2002-02-01

Hysterectomy rates in the United States 1990-1997

Cindy Farquhar
2001-12-07

Mitochondrial and cytosolic isoforms of yeast fumarase are derivatives of a single translation product and have identical amino termini

Ophry Pines
2001-09-01

Multiple leiomyomas of the esophagus, lung, and uterus in multiple endocrine neoplasia type 1.
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Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology

Lauri Aaltonen, Eero Pukkala
2001-08-30

Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.

Stephen M. Hewitt
2001-03-14

Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43

Steve Bevan, Eugene Healy, David P. Kelsell, Richard Houlston, Michele E. Murdoch, Ian Tomlinson
2001-02-27

Inherited susceptibility to uterine leiomyomas and renal cell cancer

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Uterine fibroids

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Prevalence of microscopic tumors in normal appearing renal parenchyma of patients with hereditary papillary renal cancer
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BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences
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Molecular analysis and prenatal diagnosis of human fumarase deficiency
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Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites

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Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas.

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Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency

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Collecting duct carcinoma: cytogenetic characterization
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Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes
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