Oliveira JP - Search Results

1

Phenotypic expression in the first case of complete trisomy 12: combination of prenatal ultrasound and necropsic examination.

Machado AP, Ramalho C, Loureiro T, Cunha M, Dória S, Carvalho F, Oliveira JP, Brandão O, Matias A. Machado AP, et al. Among authors: oliveira jp. Fetal Diagn Ther. 2009;25(2):234-8. doi: 10.1159/000222666. Epub 2009 Jun 3. Fetal Diagn Ther. 2009. PMID: 19494495

2

The g.1170C>T polymorphism of the 5' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression--evidence from a family study.

Oliveira JP, Ferreira S, Reguenga C, Carvalho F, Månsson JE. Oliveira JP, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S405-13. doi: 10.1007/s10545-008-0972-0. Epub 2008 Nov 3. J Inherit Metab Dis. 2008. PMID: 18979178

3

Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.

Ferreira S, Valbuena C, Carvalho F, Oliveira JP. Ferreira S, et al. Among authors: oliveira jp. Hum Genet. 2009 Aug;126(2):352. Hum Genet. 2009. PMID: 19694060 No abstract available.

4

Comprehensive genetic analysis and structural characterization of CYP21A2 mutations in CAH patients.

Carvalho B, Pereira M, Marques CJ, Carvalho D, Leão M, Oliveira JP, Barros A, Carvalho F. Carvalho B, et al. Among authors: oliveira jp. Exp Clin Endocrinol Diabetes. 2012 Oct;120(9):535-9. doi: 10.1055/s-0032-1323805. Epub 2012 Oct 16. Exp Clin Endocrinol Diabetes. 2012. PMID: 23073904

5

Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.

Sá MJ, Fieremans N, de Brouwer AP, Sousa R, e Costa FT, Brito MJ, Carvalho F, Rodrigues M, de Sousa FT, Felgueiras J, Neves F, Carvalho A, Ramos U, Vizcaíno JR, Alves S, Carvalho F, Froyen G, Oliveira JP. Sá MJ, et al. Among authors: oliveira jp. J Med Genet. 2013 Nov;50(11):745-53. doi: 10.1136/jmedgenet-2013-101670. Epub 2013 Aug 19. J Med Genet. 2013. PMID: 23958657

6

A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia.

Seabra CM, Quental S, Neto AP, Carvalho F, Gonçalves J, Oliveira JP, Fernandes S, Sousa M, Barros A, Amorim A, Lopes AM. Seabra CM, et al. Among authors: oliveira jp. Reprod Biomed Online. 2014 Sep;29(3):388-91. doi: 10.1016/j.rbmo.2014.04.017. Epub 2014 May 16. Reprod Biomed Online. 2014. PMID: 24912414

7

Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.

Oliveira JP, Ferreira S, Barceló J, Gaspar P, Carvalho F, Sá Miranda MC, Månsson JE. Oliveira JP, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S247-53. doi: 10.1007/s10545-008-0818-9. Epub 2008 Nov 3. J Inherit Metab Dis. 2008. PMID: 18979223

8

Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.

Nabais Sá MJ, Storey H, Flinter F, Nagel M, Sampaio S, Castro R, Araújo JA, Gaspar MA, Soares C, Oliveira A, Henriques AC, da Costa AG, Abreu CP, Ponce P, Alves R, Pinho L, Silva SE, de Moura CP, Mendonça L, Carvalho F, Pestana M, Alves S, Carvalho F, Oliveira JP. Nabais Sá MJ, et al. Among authors: oliveira a, oliveira jp. Clin Genet. 2015 Nov;88(5):456-61. doi: 10.1111/cge.12521. Epub 2014 Nov 10. Clin Genet. 2015. PMID: 25307543

9

Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.

Nabais Sá MJ, Sampaio S, Oliveira A, Alves S, Moura CP, Silva SE, Castro R, Araújo JA, Rodrigues M, Neves F, Seabra J, Soares C, Gaspar MA, Tavares I, Freitas L, Sousa TC, Henriques AC, Costa FT, Morgado E, Sousa FT, Sousa JP, da Costa AG, Filipe R, Garrido J, Montalban J, Ponce P, Alves R, Faria B, Carvalho MF, Pestana M, Carvalho F, Oliveira JP. Nabais Sá MJ, et al. Among authors: oliveira a, oliveira jp. Clin Genet. 2015 Nov;88(5):462-7. doi: 10.1111/cge.12522. Epub 2014 Nov 10. Clin Genet. 2015. PMID: 25307721

10

Gene dosage evidence for the regional assignment of GPT (glutamate-pyruvate transaminase; E.C. 2.6.1.2) locus to 8q24.2----8qter.

Rocha J, Amorim A, Almeida VM, Oliveira JP, Leão M, Tavares MC, Pereira MS, Vidal-Pinheiro L. Rocha J, et al. Among authors: oliveira jp. Hum Genet. 1988 Nov;80(3):299-300. doi: 10.1007/BF01790102. Hum Genet. 1988. PMID: 3192219

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