(Q28219681)

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Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome

scientific article (publication date: August 2002)

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Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome (English)

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Birt-Hogg-Dube syndrome

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Peter Choyke

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Eamonn Maher

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Michael L Nickerson

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Michelle B Warren

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Jorge R Toro

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Vera Matrosova

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Gladys Glenn

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Maria L Turner

6

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Paul Duray

7

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Maria Merino

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Christian P Pavlovich

10

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Nirmala Sharma

11

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McClellan Walther

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David Munroe

13

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Rob Hill

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Cheryl Greenberg

16

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Michael I Lerman

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W Marston Linehan

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Berton Zbar

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Laura S Schmidt

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publication date

August 2002

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157-64

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Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2.

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The Heidelberg classification of renal cell tumours.

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Monoallelic mutation analysis (MAMA) for identifying germline mutations

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Homonucleotide tracts, short repeats and CpG/CpNpG motifs are frequent sites for heterogeneous mutations in the neurofibromatosis type 1 (NF1) tumour-suppressor gene

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Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome

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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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Novel mutations of the MET proto-oncogene in papillary renal carcinomas.

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

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Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

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

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Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia.

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Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome

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Familial renal oncocytoma: clinicopathological study of 5 families

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Denaturing high-performance liquid chromatography: A review

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Original Articles: Kidney Cancer: Hereditary Papillary Renal Cell Carcinoma: Clinical Studies in 10 Families

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Identifiers

10.1016/S1535-6108(02)00104-6

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Consolidated OpenCitations Corpus – April 2017

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OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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