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Titolo:
MUTATIONS OF PTEN IN PATIENTS WITH BANNAYAN-RILEY-RUVALCABA PHENOTYPE
Autore:
LONGY M; COULON V; DUBOUE B; DAVID A; LARREGUE M; ENG C; AMATI P; KRAIMPS JL; BOTTANI A; LACOMBE D; BONNEAU D;
Indirizzi:
CHU POITIERS,SERV GENET,BP 577 F-86021 POITIERS FRANCE CHU POITIERS,SERV GENET F-86021 POITIERS FRANCE CHU POITIERS,SERV DERMATOL F-86021 POITIERS FRANCE CHU POITIERS,SERV CHIRURG ENDOCRINIENNE F-86021 POITIERS FRANCE INST BERGONIE,MOL ONCOL LAB BORDEAUX FRANCE CHU NANTES,SERV PEDIAT & GENET F-44035 NANTES 01 FRANCE HARVARD UNIV,SCH MED,DANA FARBER CANC INST,TRANSLAT RES LAB,DEPT ADULT ONCOL BOSTON MA 02115 CHU BORDEAUX,SERV GENET MED BORDEAUX FRANCE CMU,DIV MED GENET GENEVA SWITZERLAND
Titolo Testata:
Journal of Medical Genetics
fascicolo: 11, volume: 35, anno: 1998,
pagine: 886 - 889
SICI:
0022-2593(1998)35:11<886:MOPIPW>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
GERMLINE MUTATIONS; COWDEN-DISEASE; GENE; CARCINOMAS; BREAST; CANCER; LOCUS;
Keywords:
BANNAYAN-RILEY-RUVALCABA SYNDROME; COWDEN DISEASE; PTEN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
15
Recensione:
Indirizzi per estratti:
Citazione:
M. Longy et al., "MUTATIONS OF PTEN IN PATIENTS WITH BANNAYAN-RILEY-RUVALCABA PHENOTYPE", Journal of Medical Genetics, 35(11), 1998, pp. 886-889

Abstract

We report three new mutations in PTEN, the gene responsible for Cowden disease in five patients with Bannayan-Riley-Ruvalcaba syndrome fromthree unrelated families. This finding confirms that Cowden disease, a dominant cancer predisposing syndrome, and Bannayan-Riley-Ruvalcaba syndrome, which includes macrocephaly, multiple lipomas, intestinal hamartomatous polyps, vascular malformations, and pigmented macules of the penis, are allelic disorders at the PTEN locus on chromosome 10q.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 15:05:13