Marques-de-Faria AP - Search Results

1

A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome.

Lincoln-de-Carvalho CR, Vicente FM, Vieira TA, de Mello MP, Marques-de-Faria AP. Lincoln-de-Carvalho CR, et al. Am J Med Genet A. 2011 Feb;155A(2):450-4. doi: 10.1002/ajmg.a.33458. Am J Med Genet A. 2011. PMID: 21271672 No abstract available.

2

True agonadism: report of a case analyzed with Y-specific DNA probes.

Maciel-Guerra AT, Farah SB, Garmes HM, Pinto Júnior W, Bustorff da Silva JM, Baptista MT, Marques-de-Faria AP, Guerra Júnior G, de Mello MP. Maciel-Guerra AT, et al. Am J Med Genet. 1991 Dec 15;41(4):444-5. doi: 10.1002/ajmg.1320410412. Am J Med Genet. 1991. PMID: 1776634

3

True hermaphrodites in the southeastern region of Brazil: a different cytogenetic and gonadal profile.

Guerra Júnior G, de Mello MP, Assumpção JG, Morcillo AM, Marini SH, Baptista MT, Paiva e Silva RB, Marqués-de-Faria AP, Maciel-Guerra AT. Guerra Júnior G, et al. J Pediatr Endocrinol Metab. 1998 Jul-Aug;11(4):519-24. doi: 10.1515/jpem.1998.11.4.519. J Pediatr Endocrinol Metab. 1998. PMID: 9777572

4

Molecular mapping of an idic(Yp) chromosome in an Ullrich-Turner patient.

Godoy Assumpção J, Hackel C, Marques-De-Faria AP, Palandi de Mello M. Godoy Assumpção J, et al. Am J Med Genet. 2000 Mar 13;91(2):95-8. doi: 10.1002/(sici)1096-8628(20000313)91:2<95::aid-ajmg2>3.0.co;2-j. Am J Med Genet. 2000. PMID: 10748404

5

A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal.

Assumpção JG, Ferraz LF, Benedetti CE, Maciel-Guerra AT, Guerra G Jr, Marques-de-Faria AP, Baptista MT, de Mello MP. Assumpção JG, et al. J Endocrinol Invest. 2005 Jul-Aug;28(7):651-6. doi: 10.1007/BF03347266. J Endocrinol Invest. 2005. PMID: 16218050

6

XX Maleness and XX true hermaphroditism in SRY-negative monozygotic twins: additional evidence for a common origin.

Maciel-Guerra AT, de Mello MP, Coeli FB, Ribeiro ML, Miranda ML, Marques-de-Faria AP, Baptista MT, Moraes SG, Guerra-Júnior G. Maciel-Guerra AT, et al. J Clin Endocrinol Metab. 2008 Feb;93(2):339-43. doi: 10.1210/jc.2007-1115. Epub 2007 Dec 4. J Clin Endocrinol Metab. 2008. PMID: 18056774

7

Screening for the GJB2 c.-3170 G>A (IVS 1+1 G>A) mutation in Brazilian deaf individuals using multiplex ligation-dependent probe amplification.

da Silva-Costa SM, Coeli FB, Lincoln-de-Carvalho CR, Marques-de-Faria AP, Kurc M, Pereira T, Pomilio MC, Sartorato EL. da Silva-Costa SM, et al. Genet Test Mol Biomarkers. 2009 Oct;13(5):701-4. doi: 10.1089/gtmb.2009.0025. Genet Test Mol Biomarkers. 2009. PMID: 19715470

8

[The inclusion of new techniques of chromosome analysis has improved the cytogenetic profile of Turner syndrome].

Barros BA, Maciel-Guerra AT, De Mello MP, Coeli FB, Carvalho AB, Viguetti-Campos N, Assumpção Jde G, Marques-de-Faria AP, Lemos-Marini SH, Guerra-Junior G. Barros BA, et al. Arq Bras Endocrinol Metabol. 2009 Dec;53(9):1137-42. doi: 10.1590/s0004-27302009000900010. Arq Bras Endocrinol Metabol. 2009. PMID: 20126871 Portuguese.

9

OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences.

Barros BA, Moraes SG, Coeli FB, Assumpção JG, De Mello MP, Maciel-Guerra AT, Carvalho AB, Viguetti-Campos N, Vieira TA, Amstalden EM, Andrade JG, Esquiaveto-Aun AM, Marques-de-Faria AP, D'Souza-Li LF, Lemos-Marini SH, Guerra G Jr. Barros BA, et al. Hum Reprod. 2011 Dec;26(12):3450-5. doi: 10.1093/humrep/der310. Epub 2011 Sep 19. Hum Reprod. 2011. PMID: 21930534

10

Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases.

Rocha VB, Guerra-Júnior G, Marques-de-Faria AP, de Mello MP, Maciel-Guerra AT. Rocha VB, et al. Fertil Steril. 2011 Dec;96(6):1431-4. doi: 10.1016/j.fertnstert.2011.09.009. Epub 2011 Oct 6. Fertil Steril. 2011. PMID: 21982289 Free article.

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