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Titolo:
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome
Autore:
Zori, RT; Marsh, DJ; Graham, GE; Marliss, EB; Eng, C;
Indirizzi:
Univ Florida, Dept Pediat, JHMHC, Div Genet, Gainesville, FL 32606 USA Univ Florida Gainesville FL USA 32606 iv Genet, Gainesville, FL 32606 USA HarvardaUniv, Sch Med,Dana Farber Canc Inst,Dept Adult Oncol, Charles A Dan Harvard Univ Boston MA USA 02115 anc Inst,Dept Adult Oncol, Charles A Dan Univ Calgary, Dept Med Genet, Calgary, AB, Canada Univ Calgary Calgary ABCanada gary, Dept Med Genet, Calgary, AB, Canada McGill Univ, Fac Med, McGill Nutr & Food Sci Ctr, Montreal, PQ, Canada McGill Univ Montreal PQ Canada Nutr & Food Sci Ctr, Montreal, PQ, Canada Univlandbridge, Canc Res Campaign, Human Canc Genet Res Grp, Cambridge, Eng Univ Cambridge Cambridge England man Canc Genet Res Grp, Cambridge, Eng
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 4, volume: 80, anno: 1998,
pagine: 399 - 402
SICI:
0148-7299(199812)80:4<399:GPMIAF>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
DISEASE; GENE;
Keywords:
Cowden disease; Bannayan-Riley-Ruvalcaba syndrome; PTEN; thyroid cancer; polyposis; Bannayan-Zonana syndrome; Ruvalcaba-Myhre syndrome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
9
Recensione:
Indirizzi per estratti:
Indirizzo: Zori, RT Univ606orida, Dept Pediat, JHMHC, Div Genet, POB 100296, Gainesville, FL 32 Univ Florida POB 100296 Gainesville FL USA 32606 inesville, FL 32
Citazione:
R.T. Zori et al., "Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome", AM J MED G, 80(4), 1998, pp. 399-402

Abstract

Clinical overlap between Cowden disease and Bannayan-Riley-Ruvalcaba syndrome has rarely been described and identical germline mutations in the PTEN gene have been demonstrated in a few families with Cowden disease and some cases of Bannayan-Riley-Ruvalcaba syndrome. We report on a mother with Cowden disease and a son with Bannayan-Riley-Ruvalcaba syndrome. Mutation analysis of the PTEN gene demonstrated a heterozygous nonsense mutation R130X inboth individuals. This might suggest that Cowden disease and Bannayan-Riley-Ruvalcaba syndrome are one causal entity. Am. J. Med. Genet. 80:399-402, 1998. (C) 1998 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/09/20 alle ore 09:05:02