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ABSENCE OF LINKAGE OF NOONAN SYNDROME TO THE NEUROFIBROMATOSIS TYPE-1 LOCUS
Author(s): SHARLAND M, TAYLOR R, PATTON MA, JEFFERY S
Source: JOURNAL OF MEDICAL GENETICS    Volume: 29    Issue: 3    Pages: 188-190    Published: MAR 1992  
Times Cited: 22     References: 21     
Abstract: Eleven families with Noonan syndrome in either two or three generations have been identified. Following the reports of subjects with features of both Noonan syndrome and neurofibromatosis type 1, these pedigrees have been studied using a number of probes at the neurofibromatosis type 1 locus (17q11). A significantly negative lod score was obtained with the intragenic probe NF1-C2, suggesting that the genes for Noonan syndrome and neurofibromatosis type 1 are not contiguous.
Document Type: Article
Language: English
Reprint Address: SHARLAND, M (reprint author), ST GEORGE HOSP, SCH MED, SW THAMES REG GENET SERV, CRANMER TERRACE, LONDON SW17 0RE, ENGLAND
Publisher: BRITISH MED JOURNAL PUBL GROUP, BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON, ENGLAND WC1H 9JR
Subject Category: Genetics & Heredity
IDS Number: HG625
ISSN: 0022-2593
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