Guerra-Junior G - Search Results

1

New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.

Hackel C, Oliveira LE, Ferraz LF, Tonini MM, Silva DN, Toralles MB, Stuchi-Perez EG, Guerra-Junior G. Hackel C, et al. J Mol Med (Berl). 2005 Jul;83(7):569-76. doi: 10.1007/s00109-005-0651-7. Epub 2005 Mar 16. J Mol Med (Berl). 2005. PMID: 15770495

2

Evaluation of the tubular and interstitial functions of the testis in 46,XY patients with ambiguous genitalia.

Stuchi-Perez EG, Lukas-Croisier C, De Castro M, Baptista MT, Ribeiro Scolfaro M, Marques-De-Faria AP, Hackel C, Maciel-Guerra AT, Guerra Júnior G. Stuchi-Perez EG, et al. J Pediatr Endocrinol Metab. 2000 Jun;13(6):605-12. doi: 10.1515/jpem.2000.13.6.605. J Pediatr Endocrinol Metab. 2000. PMID: 10905384

3

Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis.

Tagliarini EB, Assumpção JG, Scolfaro MR, Mello MP, Maciel-Guerra AT, Guerra Júnior G, Hackel C. Tagliarini EB, et al. Braz J Med Biol Res. 2005 Jan;38(1):17-25. doi: 10.1590/s0100-879x2005000100004. Epub 2005 Jan 18. Braz J Med Biol Res. 2005. PMID: 15665984 Free article.

4

Diagnosis of 5alpha-reductase type 2 deficiency: contribution of anti-Müllerian hormone evaluation.

Stuchi-Perez EG, Hackel C, Oliveira LE, Ferraz LF, Oliveira LC, Nunes-Silva D, Toralles MB, Steinmetz L, Damiani D, Maciel-Guerra AT, Guerra-Junior G. Stuchi-Perez EG, et al. J Pediatr Endocrinol Metab. 2005 Dec;18(12):1383-9. doi: 10.1515/jpem.2005.18.12.1383. J Pediatr Endocrinol Metab. 2005. PMID: 16459464

5

[5alpha-reductase type 2 deficiency: experiences from Campinas (SP) and Salvador (BA)].

Hackel C, Oliveira LE, Toralles MB, Nunes-Silva D, Tonini MM, Ferraz LF, Steinmetz L, Damiani D, Oliveira LC, Maciel-Guerra AT, Stuchi-Perez EG, Guerra-Júnior G. Hackel C, et al. Arq Bras Endocrinol Metabol. 2005 Feb;49(1):103-11. doi: 10.1590/s0004-27302005000100014. Epub 2006 Mar 16. Arq Bras Endocrinol Metabol. 2005. PMID: 16544041 Portuguese.

6

Six new cases confirm the clinical molecular profile of complete combined 17α-hydroxylase/ 17,20-lyase deficiency in Brazil.

Belgini DR, Mello MP, Baptista MT, Oliveira DM, Denardi FC, Garmes HM, Grassiotto Oda R, Benetti Pinto CL, Marques-de-Faria AP, Maciel-Guerra AT, Guerra-Júnior G. Belgini DR, et al. Arq Bras Endocrinol Metabol. 2010 Nov;54(8):711-6. doi: 10.1590/s0004-27302010000800008. Arq Bras Endocrinol Metabol. 2010. PMID: 21340157

7

Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia.

Lusa LG, Lemos-Marini SH, Soardi FC, Ferraz LF, Guerra-Júnior G, Mello MP. Lusa LG, et al. Arq Bras Endocrinol Metabol. 2010 Nov;54(8):768-74. doi: 10.1590/s0004-27302010000800018. Arq Bras Endocrinol Metabol. 2010. PMID: 21340167

8

Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development.

Leme de Calais FL, Soardi FC, Petroli RJ, Lusa AL, de Paiva E Silva RB, Maciel-Guerra AT, Guerra-Júnior G, de Mello MP. Leme de Calais FL, et al. Int J Mol Sci. 2011;12(12):9471-80. doi: 10.3390/ijms12129471. Epub 2011 Dec 19. Int J Mol Sci. 2011. PMID: 22272144 Free PMC article.

9

Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.

Castro CC, Guaragna-Filho G, Calais FL, Coeli FB, Leal IR, Cavalcante-Junior EF, Monlleó IL, Pereira SR, Silva RB, Gabiatti JR, Marques-de-Faria AP, Maciel-Guerra AT, Mello MP, Guerra-Junior G. Castro CC, et al. Arq Bras Endocrinol Metabol. 2012 Nov;56(8):533-9. doi: 10.1590/s0004-27302012000800012. Arq Bras Endocrinol Metabol. 2012. PMID: 23295294

10

46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene.

Guaragna-Filho G, Castro CC, Carvalho RR, Coeli FB, Ferraz LF, Petroli RJ, Mello MP, Sewaybricker LE, Lemos-Marini SH, D'Souza-Li LF, Miranda ML, Maciel-Guerra AT, Guerra-Junior G. Guaragna-Filho G, et al. Arq Bras Endocrinol Metabol. 2012 Nov;56(8):578-85. doi: 10.1590/s0004-27302012000800020. Arq Bras Endocrinol Metabol. 2012. PMID: 23295302

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