Costa EM - Search Results

1

Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1.

Trarbach EB, Teles MG, Costa EM, Abreu AP, Garmes HM, Guerra G Jr, Baptista MT, de Castro M, Mendonca BB, Latronico AC. Trarbach EB, et al. Among authors: costa em. Clin Endocrinol (Oxf). 2010 Mar;72(3):371-6. doi: 10.1111/j.1365-2265.2009.03642.x. Epub 2009 May 29. Clin Endocrinol (Oxf). 2010. PMID: 19489874

2

Frequency of the allelic variant (Trp8Arg/Ile15Thr) of the luteinizing hormone gene in a Brazilian cohort of healthy subjects and in patients with hypogonadotropic hypogonadism.

Berger K, Billerbeck AE, Costa EM, Carvalho LS, Arnhold IJ, Mendonca BB. Berger K, et al. Among authors: costa em. Clinics (Sao Paulo). 2005 Dec;60(6):461-4. doi: 10.1590/s1807-59322005000600006. Epub 2005 Dec 12. Clinics (Sao Paulo). 2005. PMID: 16358135 Free article.

3

[Leydig cell hypoplasia].

Latronico AC, Costa EM, Mendonça BB, Arnhold IJ. Latronico AC, et al. Among authors: costa em. Arq Bras Endocrinol Metabol. 2005 Feb;49(1):83-6. doi: 10.1590/s0004-27302005000100011. Epub 2006 Mar 16. Arq Bras Endocrinol Metabol. 2005. PMID: 16544038 Review. Portuguese.

4

Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.

Trarbach EB, Costa EM, Versiani B, de Castro M, Baptista MT, Garmes HM, de Mendonca BB, Latronico AC. Trarbach EB, et al. Among authors: costa em. J Clin Endocrinol Metab. 2006 Oct;91(10):4006-12. doi: 10.1210/jc.2005-2793. Epub 2006 Aug 1. J Clin Endocrinol Metab. 2006. PMID: 16882753

5

Molecular analysis of the neuropeptide Y1 receptor gene in human idiopathic gonadotropin-dependent precocious puberty and isolated hypogonadotropic hypogonadism.

Freitas KC, Ryan G, Brito VN, Tao YX, Costa EM, Mendonca BB, Segaloff D, Latronico AC. Freitas KC, et al. Among authors: costa em. Fertil Steril. 2007 Mar;87(3):627-34. doi: 10.1016/j.fertnstert.2006.07.1519. Epub 2006 Nov 29. Fertil Steril. 2007. PMID: 17140570 Free article.

6

Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage.

Nishi MY, Correa RV, Costa EM, Billerbeck AE, Cruzes AL, Domenice S, Carvalho LR, Mendonca BB. Nishi MY, et al. Among authors: costa em. Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1282-7. doi: 10.1590/s0004-27302008000800013. Arq Bras Endocrinol Metabol. 2008. PMID: 19169482

7

The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants.

Nishi MY, Costa EM, Oliveira SB, Mendonca BB, Domenice S. Nishi MY, et al. Among authors: costa em. Horm Res Paediatr. 2011;75(1):26-31. doi: 10.1159/000316536. Epub 2010 Aug 12. Horm Res Paediatr. 2011. PMID: 20699606

8

A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome.

da Silva TE, Nishi MY, Costa EM, Martin RM, Carvalho FM, Mendonca BB, Domenice S. da Silva TE, et al. Among authors: costa em. Pediatr Nephrol. 2011 Aug;26(8):1311-5. doi: 10.1007/s00467-011-1847-4. Epub 2011 May 11. Pediatr Nephrol. 2011. PMID: 21559934

9

MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female.

Brandão MP, Costa EM, Fukami M, Gerdulo M, Pereira NP, Domenice S, Ogata T, Mendonca BB. Brandão MP, et al. Among authors: costa em. Adv Exp Med Biol. 2011;707:129-31. doi: 10.1007/978-1-4419-8002-1_28. Adv Exp Med Biol. 2011. PMID: 21691970 No abstract available.

10

Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding.

Nishi MY, Martins TC, Costa EM, Mendonca BB, Giron AM, Domenice S. Nishi MY, et al. Among authors: costa em. Arq Bras Endocrinol Metabol. 2013 Mar;57(2):148-52. doi: 10.1590/s0004-27302013000200009. Arq Bras Endocrinol Metabol. 2013. PMID: 23525294

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