Marques-de-Faria AP - Search Results

1

Horovitz DD, de Faria Ferraz VE, Dain S, Marques-de-Faria AP. Horovitz DD, et al. J Community Genet. 2013 Jul;4(3):355-75. doi: 10.1007/s12687-012-0096-y. Epub 2012 May 5. J Community Genet. 2013. PMID: 22565417 Free PMC article. No abstract available.

2

Erratum to: Genetic services and testing in Brazil.

Horovitz DD, de Faria Ferraz VE, Dain S, Marques-de-Faria AP. Horovitz DD, et al. J Community Genet. 2013 Jul;4(3):377-8. doi: 10.1007/s12687-012-0108-y. J Community Genet. 2013. PMID: 22777608 Free PMC article.

3

Clinical genetics in developing countries: the case of Brazil.

Marques-de-Faria AP, Ferraz VE, Acosta AX, Brunoni D. Marques-de-Faria AP, et al. Community Genet. 2004;7(2-3):95-105. doi: 10.1159/000080777. Community Genet. 2004. PMID: 15539823

4

Genotype and natural history in unrelated individuals with phenylketonuria and autistic behavior.

Steiner CE, Acosta AX, Guerreiro MM, Marques-de-Faria AP. Steiner CE, et al. Arq Neuropsiquiatr. 2007 Jun;65(2A):202-5. doi: 10.1590/s0004-282x2007000200003. Arq Neuropsiquiatr. 2007. PMID: 17607414 Free article.

5

[Prevention of mental retardation: knowledge and perception by health professionals].

Moraes AM, Magna LA, Marques-de-Faria AP. Moraes AM, et al. Cad Saude Publica. 2006 Mar;22(3):685-90. doi: 10.1590/s0102-311x2006000300023. Epub 2006 Mar 27. Cad Saude Publica. 2006. PMID: 16583112 Free article. Portuguese.

6

Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome.

Maciel-Guerra AT, Guerra G Jr, Marini SH, Matias Baptista MT, Marques-de-Faria AP. Maciel-Guerra AT, et al. Clin Genet. 1997 May;51(5):351-3. doi: 10.1111/j.1399-0004.1997.tb02487.x. Clin Genet. 1997. PMID: 9212186

7

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

Steiner CE, Cintra ML, Marques-de-Faria AP. Steiner CE, et al. Am J Med Genet. 2002 Dec 15;113(4):381-4. doi: 10.1002/ajmg.b.10787. Am J Med Genet. 2002. PMID: 12457412 Review.

8

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

9

Ophthalmic aspects of GAPO syndrome: case report and review.

Rim PH, Marques-de-Faria AP. Rim PH, et al. Ophthalmic Genet. 2005 Sep;26(3):143-7. doi: 10.1080/13816810500229058. Ophthalmic Genet. 2005. PMID: 16272061

10

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

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