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Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study

Autor desconocido (Springer, 2015)

Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to concentrate urine. The AVPR2 and AQP2 genes were screened for mutations ...

Mutations For Leber Hereditary Optic Neuropathy In Patients With Alcohol And Tobacco Optic Neuropathy.

Amaral-Fernandes, Marcela Scabello; Marcondes, Ana Maria; Miranda, Paulo Maurício do Amor Divino; Maciel-Guerra, Andréa Trevas; Sartorato, Edi Lúcia (2011)

Study Of Modifiers Factors Associated To Mitochondrial Mutations In Individuals With Hearing Impairment.

de Moraes, Vanessa Cristine Sousa; Alexandrino, Fabiana; Andrade, Paula Baloni; Câmara, Marília Fontenele; Sartorato, Edi Lúcia (2009)

Prevalence Of Katg Ser315 Substitution And Rpob Mutations In Isoniazid-resistant Mycobacterium Tuberculosis Isolates From Brazil.

Höfling, C C; Pavan, E M; Giampaglia, C M S; Ferrazoli, L; Aily, D C G; de Albuquerque, D M; Ramos, M C (2005)

Antithrombin Deficiency In Brazilian Patients With Venous Thrombosis: Molecular Characterization Of A Single Splice Site Mutation, An Insertion And A De Novo Point Mutation.

Arnaldi, L A; Pretti, F A; Zampieri, J P; Ramos, C F; Arruda, V R; Annichino-Bizzacchi, J M (2001)

Frequency Of The 35delg Mutation In The Gjb2 Gene In Samples Of European, Asian, And African Brazilians.

Oliveira, C A; Alexandrino, F; Abe-Sandes, K; Silva, W A; Maciel-Guerra, A T; Magna, L A; Sartorato, E L (2004)

Mutations In The P53 Gene In Acute Myeloid Leukemia Patients Correlate With Poor Prognosis.

Melo, Mônica B; Ahmad, Nilofer N; Lima, Carmen S P; Pagnano, Katia B B; Bordin, Silvana; Lorand-Metze, Irene; SaAd, Sara T O; Costa, Fernando F (2002)

The frequency of 844ins68 mutation in the cystathionine β-synthase gene is not increased in patients with venous thrombosis

Universidade de São Paulo (USP); FUNDHERP; Universidade Estadual Paulista (Unesp); Universidade Federal de São Paulo (UNIFESP) (1998-11-01)

Background and Objectives. A frequent mutation in the cystathionine β- synthase (CBS) gene (844ins68, a 68-bp insertion in the coding region of exon 8) was recently discovered. In the present study we investigated this ...

Molecular Genetics Study Of Deafness In Brazil: 8-year Experience.

de Oliveira, Camila Andréa; Alexandrino, Fabiana; Christiani, Thalita Vitachi; Steiner, Carlos Eduardo; Cunha, José Luiz Rosemberis; Guerra, Andréa Trevas Maciel; Sartorato, Edi Lúcia (2007)

Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox

Patino, PJ; Perez, JE; Lopez, JA; Condino-Neto, A; Grumach, AS; Botero, JH; Curnutte, JT; de Olarte, DG (Wiley-lissNew YorkEUA, 1999)

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