6 documents found, page 1 of 1
Xeroderma pigmentosum: Low prevalence of germline XPA mutations in a brazilian ...
Santiago, Karina Miranda; De Nóbrega, Amanda França; Rocha, Rafael Malagoli; Rogatto, Silvia Regina; Achatz, Maria IsabelMade available in DSpace on 2022-04-29T08:45:01Z (GMT). No. of bitstreams: 0 Previous issue date: 2015-04-01; Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by DNA repair defects that cause photophobia, sunlight-induced cancers, and neurodegeneration. Prevalence of germline mutations in the nucleotide excision repair gene XPA vary significantly in different populations. No Brazi...
Comprehensive germline mutation analysis and clinical profile in a large cohort...
Achatz, Maria Isabel
Germline mutation in mus81 resulting in impaired protein stability is associate...
Pinheiro, Maisa [UNESP]; Lupinacci, Fernanda Cristina Sulla; Santiago, Karina Miranda; Drigo, Sandra Aparecida [UNESP]; Marchi, Fabio AlbuquerqueMade available in DSpace on 2020-12-12T02:08:56Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-05-01; Syddansk Universitet; Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP); Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq); Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES); Multiple primary thyroid cancer (TC) and breast cancer (BC) are commonly diagnos...
Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) founder mutation ...
Paskulin, Diego Davilla; Giacomazzi, Juliana; Achatz, Maria Isabel; Costa, Sandra; Reis, R. M.; Hainau, Pierre; Santos, Sidney Emanuel Batista dosRare germline mutations in TP53 (17p13.1) cause a highly penetrant predisposition to a specific spectrum of early cancers, defining the Li-Fraumeni Syndrome (LFS). A germline mutation at codon 337 (p.Arg337His, c1010G>A) is found in about 0.3% of the population of Southern Brazil. This mutation is associated with partially penetrant LFS traits and is found in the germline of patients with early cancers of the L...
DNA methylation patterns of candidate genes regulated by thymine DNA glycosylas...
Fortes, Fernanda Paschoal; Kuasne, Hellen [UNESP]; Marchi, Fabio Albuquerque; Miranda, Priscila Mayrink; Rogatto, Silvia Regina [UNESP]Made available in DSpace on 2015-10-21T13:09:36Z (GMT). No. of bitstreams: 0 Previous issue date: 2015-06-01. Added 1 bitstream(s) on 2015-10-22T09:53:14Z : No. of bitstreams: 1 S0100-879X2015000700610.pdf: 240708 bytes, checksum: 62fba3af69e3a69dbc69570db5642260 (MD5); National Institute of Science and Technology in Oncogenomics (INCITO); Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq); Li...
The profile and contribution of rare germline copy number variants to cancer ri...
Achatz, Maria Isabel