Santos R - Search Results

1

Hematologically important mutations: Shwachman-Diamond syndrome.

Costa E, Santos R. Costa E, et al. Among authors: santos r. Blood Cells Mol Dis. 2008 Mar-Apr;40(2):183-4. doi: 10.1016/j.bcmd.2007.07.008. Epub 2007 Oct 4. Blood Cells Mol Dis. 2008. PMID: 17916435 Free article.

2

Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome.

Costa E, Duque F, Oliveira J, Garcia P, Gonçalves I, Diogo L, Santos R. Costa E, et al. Among authors: santos r. Blood Cells Mol Dis. 2007 Jul-Aug;39(1):96-101. doi: 10.1016/j.bcmd.2007.02.002. Epub 2007 Mar 21. Blood Cells Mol Dis. 2007. PMID: 17376717 Free article.

3

Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects.

Rodrigues C, Vieira E, Santos R, de Carvalho J, Santos-Silva A, Costa E, Bronze-da-Rocha E. Rodrigues C, et al. Among authors: santos silva a, santos r. Blood Cells Mol Dis. 2012 Mar 15;48(3):166-72. doi: 10.1016/j.bcmd.2012.01.004. Epub 2012 Feb 9. Blood Cells Mol Dis. 2012. PMID: 22325916 Free article.

4

Bilirubin dependence on UGT1A1 polymorphisms, hemoglobin, fasting time and body mass index.

Rodrigues C, Costa E, Vieira E, Santos R, De Carvalho J, Rocha-Pereira P, Santos-Silva A, Bronze-da-Rocha E. Rodrigues C, et al. Among authors: santos silva a, santos r. Am J Med Sci. 2012 Feb;343(2):114-118. doi: 10.1097/MAJ.0b013e318223460f. Am J Med Sci. 2012. PMID: 21760472

5

Oxidized low-density lipoprotein and lipoprotein(a) levels in chronic kidney disease patients under hemodialysis: influence of adiponectin and of a polymorphism in the apolipoprotein(a) gene.

Ribeiro S, Faria Mdo S, Silva G, Nascimento H, Rocha-Pereira P, Miranda V, Vieira E, Santos R, Mendonça D, Quintanilha A, Costa E, Belo L, Santos-Silva A. Ribeiro S, et al. Among authors: santos silva a, santos r. Hemodial Int. 2012 Oct;16(4):481-90. doi: 10.1111/j.1542-4758.2012.00687.x. Epub 2012 Apr 20. Hemodial Int. 2012. PMID: 22515595

6

Bilirubin levels and redox status in a young healthy population.

Rodrigues C, Rocha S, Nascimento H, Vieira E, Santos R, Santos-Silva A, Costa E, Bronze-da-Rocha E. Rodrigues C, et al. Among authors: santos silva a, santos r. Acta Haematol. 2013;130(1):57-60. doi: 10.1159/000346429. Epub 2013 Mar 6. Acta Haematol. 2013. PMID: 23486163 No abstract available.

7

Clinical and Genetic Analysis of Children with Kartagener Syndrome.

Pereira R, Barbosa T, Gales L, Oliveira E, Santos R, Oliveira J, Sousa M. Pereira R, et al. Among authors: santos r. Cells. 2019 Aug 15;8(8):900. doi: 10.3390/cells8080900. Cells. 2019. PMID: 31443223 Free PMC article.

8

Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome.

Oliveira J, Dias C, Redeker E, Costa E, Silva J, Reis Lima M, den Dunnen JT, Santos R. Oliveira J, et al. Among authors: santos r. Hum Mutat. 2010 Nov;31(11):1216-22. doi: 10.1002/humu.21352. Hum Mutat. 2010. PMID: 20824775

9

Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles.

Monteiro C, Gonçalves A, Oliveira J, Salvado R, Tomaz J, Morais S, Lima M, Santos R. Monteiro C, et al. Among authors: santos r. Int J Mol Sci. 2022 Aug 25;23(17):9621. doi: 10.3390/ijms23179621. Int J Mol Sci. 2022. PMID: 36077017 Free PMC article.

10

A family with 2 different hereditary diseases leading to early cardiac involvement.

Nzwalo H, Conceição I, Pereira P, Santos R, Evangelista T. Nzwalo H, et al. Among authors: santos r. J Clin Neuromuscul Dis. 2013 Jun;14(4):204-8. doi: 10.1097/CND.0b013e31829082c3. J Clin Neuromuscul Dis. 2013. PMID: 23703017

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