Search Results - "Mathez, Andreia L G"

The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene by Carvalheira, Gianna, Malinverni, Andrea M, Moysés-Oliveira, Mariana, Ueta, Renata, Cardili, Leonardo, Monteagudo, Patrícia, Mathez, Andreia L G, Verreschi, Ieda T, Maluf, Miguel A, Shida, Márcia E F, Leite, Mila T C, Mazzotti, Diego, Melaragno, Maria Isabel, Dias-da-Silva, Magnus R

“…Gonadal sex determination is a complex genetic process by which an embryonic primordium is driven to form an ovary or a testis, which requires a delicate…”
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Unexpected finding of a whole HNF1B gene deletion during the screening of rare MODY types in a series of Brazilian patients negative for GCK and HNF1A mutations by Dotto, Renata P, Giuffrida, Fernando M.A, Franco, Luciana, Mathez, Andreia L.G, Weinert, Leticia S, Silveiro, Sandra P, Sa, Joao R, Reis, Andre F, Dias-da-Silva, Magnus R

“…Highlights • Thirty-two subjects with a clinical phenotype of MODY have been further evaluated for large deletions using MLPA. • Mutations in HNF1B have been…”
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The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene by Carvalheira, Gianna, Malinverni, Andrea M, Moysés-Oliveira, Mariana, Ueta, Renata, Cardili, Leonardo, Monteagudo, Patrícia, Mathez, Andreia L G, Verreschi, Ieda T, Maluf, Miguel A, Shida, Márcia E F, Leite, Mila T C, Mazzotti, Diego, Melaragno, Maria Isabel, Dias-da-Silva, Magnus R

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