Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: A need for delineating genotype-phenotype correlation

Familial Cancer

Volumn 9, Issue 4, 2010, Pages 635-642

  Gomy, Israel ^a   Molfetta, Greice Andreotti ^a   De Andrade Barreto, Ester ^b   Ferreira, Cristiane Ayres ^c   Zanette, Dalila Luciola ^c   Casali Da Rocha, José Cláudio ^b   Silva Jr , Wilson Araujo ^a,c  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b INSTITUTO NACIONAL DE CÂNCER   (Brazil)

^c National Institute of Science and Technology in Stem Cell and Cell Therapy   (Brazil)

Author keywords

Genotype phenotype correlation; Germline mutation; VHL; Von Hippel Lindau disease

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CODON USAGE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEMANGIOBLASTOMA; HUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA SPLICING; VON HIPPEL LINDAU DISEASE;

ADOLESCENT; ADULT; BRAZIL; CARCINOMA, RENAL CELL; CASE-CONTROL STUDIES; CEREBELLAR NEOPLASMS; CHILD; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FAMILY; FEMALE; GENE DELETION; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INTRONS; KIDNEY NEOPLASMS; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RISK FACTORS; VON HIPPEL-LINDAU DISEASE; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN; YOUNG ADULT;

EID: 78650224892     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-010-9357-2     Document Type: Article

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