Rosário Santos - Search Results

Year	Number of Results
2002	3
2003	1
2004	1
2005	4
2006	1
2007	2
2008	3
2009	3
2010	2
2011	4
2012	4
2013	6
2014	6
2015	4
2016	3
2017	5
2018	2
2019	4
2020	6
2021	4
2022	4
2023	4
2024	0

1

A comparative analysis of endometrial cancer disparities in incidence, mortality, and survival between women living in Puerto Rico, Non-Hispanic Blacks, Non-Hispanic Whites, and US Hispanics between 2000-2018.

Rosario-Santos A, Torres-Cintrón CR, López-Rexach AG, Gonzalez-Carcache P, Tortolero-Luna G, Umpierre S. Rosario-Santos A, et al. Gynecol Oncol Rep. 2023 Sep 14;49:101275. doi: 10.1016/j.gore.2023.101275. eCollection 2023 Oct. Gynecol Oncol Rep. 2023. PMID: 37791112 Free PMC article.

2

A new case of platelet-type von Willebrand disease supports the recent findings of gain-of-function GP1BA variants outside the C-terminal disulphide loop enhances affinity for von Willebrand factor.

Monteiro C, Gonçalves A, Pereira M, Lau C, Morais S, Santos R. Monteiro C, et al. Among authors: santos r. Br J Haematol. 2023 Nov;203(4):673-677. doi: 10.1111/bjh.19025. Epub 2023 Aug 17. Br J Haematol. 2023. PMID: 37592722

3

[Medication Reconciliation during Admission to an Internal Medicine Department: The Perspective of Primary Health Care].

Ferreira J, Santos R. Ferreira J, et al. Among authors: santos r. Acta Med Port. 2023 Mar 1;36(3):219-220. doi: 10.20344/amp.19363. Epub 2023 Jan 31. Acta Med Port. 2023. PMID: 36720116 Free article. Portuguese. No abstract available.

4

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Maia N, et al. Among authors: santos r. Am J Med Genet A. 2023 Jan;191(1):135-143. doi: 10.1002/ajmg.a.63004. Epub 2022 Oct 22. Am J Med Genet A. 2023. PMID: 36271811 Free PMC article.

5

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.

6

Subclinical bovine mastitis associated with Staphylococcus spp. in eleven Uruguayan dairy farms.

De Los Santos R, González-Revello Á, Majul L, Umpiérrez A, Aldrovandi A, Gil A, Hirigoyen D, Zunino P. De Los Santos R, et al. J Infect Dev Ctries. 2022 Apr 30;16(4):630-637. doi: 10.3855/jidc.12960. J Infect Dev Ctries. 2022. PMID: 35544624 Free article.

7

Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis.

Rodrigues B, Gonçalves A, Sousa V, Maia N, Marques I, Vale-Fernandes E, Santos R, Nogueira AJA, Jorge P. Rodrigues B, et al. Among authors: santos r. Genes (Basel). 2022 Feb 25;13(3):419. doi: 10.3390/genes13030419. Genes (Basel). 2022. PMID: 35327973 Free PMC article.

8

Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?

Maia N, Nabais Sá MJ, Oliveira C, Santos F, Soares CA, Prior C, Tkachenko N, Santos R, de Brouwer APM, Jacome A, Porto B, Jorge P. Maia N, et al. Among authors: santos r. Genes (Basel). 2021 Dec 28;13(1):78. doi: 10.3390/genes13010078. Genes (Basel). 2021. PMID: 35052418 Free PMC article.

9

Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD).

Gonçalves A, Fortuna A, Ariyurek Y, Oliveira ME, Nadais G, Pinheiro J, den Dunnen JT, Sousa M, Oliveira J, Santos R. Gonçalves A, et al. Among authors: santos r. Int J Mol Sci. 2021 Dec 22;23(1):59. doi: 10.3390/ijms23010059. Int J Mol Sci. 2021. PMID: 35008485 Free PMC article.

10

CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2.

Morais S, Pereira M, Lau C, Gonçalves A, Monteiro C, Gonçalves M, Oliveira J, Moreira L, Cruz E, Santos R, Lima M. Morais S, et al. Among authors: santos r. Int J Mol Sci. 2021 Nov 17;22(22):12423. doi: 10.3390/ijms222212423. Int J Mol Sci. 2021. PMID: 34830306 Free PMC article.

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