Search Results - "Silva, Thatiana Evilen da"

Long‐term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis by Gomes, Nathalia L., Lerário, Antônio Marcondes, Machado, Aline Zamboni, Moraes, Daniela Rodrigues de, Silva, Thatiana Evilen da, Arnhold, Ivo J. P., Batista, Rafael Loch, Faria Júnior, José Antônio Diniz, Costa, Elaine F., Nishi, Mirian Y., Inacio, Marlene, Domenice, Sorahia, Mendonca, Berenice B.

“…Summary Background Follow‐up data on patients with 46,XY partial gonadal dysgenesis (PGD) until adulthood are scarce, making information on prognosis…”
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Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum by da Silva, Thatiana Evilen, Gomes, Nathalia Lisboa, Lerário, Antonio Marcondes, Keegan, Catherine Elizabeth, Nishi, Mirian Yumi, Carvalho, Filomena Marino, Vilain, Eric, Barseghyan, Hayk, Martinez-Aguayo, Alejandro, Forclaz, María Verónica, Papazian, Regina, Pedroso de Paula, Leila Cristina, Costa, Eduardo Corrêa, Carvalho, Luciani Renata, Jorge, Alexander Augusto Lima, Elias, Felipe Martins, Mitchell, Rod, Costa, Elaine Maria Frade, Mendonca, Berenice Bilharinho, Domenice, Sorahia

“…46,XY Gonadal dysgenesis (GD) is a heterogeneous group of disorders with a wide phenotypic spectrum, including embryonic testicular regression syndrome (ETRS)…”
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Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis by Machado, Aline Zamboni, da Silva, Thatiana Evilen, Frade Costa, Elaine Maria, dos Santos, Mariza Gerdulo, Nishi, Mirian Yumie, Brito, Vinicius Nahime, Mendonca, Berenice Bilharinho, Domenice, Sorahia

“…Abstract Despite advances in our understanding of the mechanisms involved in sex determination and differentiation, the specific roles of many genes in these…”
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A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys–Drash syndrome by da Silva, Thatiana Evilen, Nishi, Mirian Yumie, Costa, Elaine Maria Frade, Martin, Regina Matsunaga, Carvalho, Filomena Marino, Mendonca, Berenice Bilharinho, Domenice, Sorahia

“…WT1 mutations have been described in a variety of syndromes, including Denys-Drash syndrome (DDS), which is characterized by predisposition to Wilms’ tumor,…”
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