Publications by authors named "Jacome Bruges-Armas"

49Publications

Whole exome sequencing of patients with diffuse idiopathic skeletal hyperostosis and calcium pyrophosphate crystal chondrocalcinosis.

Acta Reumatol Port 2020 Apr-Jun;45(2):116-126

Serviço Especializado de Epidemiologia e Biologia Molecular (SEEBMO) / Hospital de Santo Espírito da Ilha Terceira (HSEIT);

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September 2020

Monogenic Diabetes: Genetics and Relevance on Diabetes Mellitus Personalized Medicine.

Curr Diabetes Rev 2020 ;16(8):807-819

Serviço Especializado de Epidemiologia e Biologia Molecular (SEEBMO), Hospital de Santo Espírito da Ilha Terceira (HSEIT), Angra do Heroísmo, Azores, Portugal.

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http://dx.doi.org/10.2174/1573399816666191230114352DOI Listing
September 2020

Persistence of the ABCC6 genes and the emergence of the bony skeleton in vertebrates.

Sci Rep 2018 04 16;8(1):6027. Epub 2018 Apr 16.

Centre of Marine Sciences (CCMAR), Universidade do Algarve, Campus de Gambelas, 8005-139, Faro, Portugal.

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http://dx.doi.org/10.1038/s41598-018-24370-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902450PMC
April 2018

Combined approach for finding susceptibility genes in DISH/chondrocalcinosis families: whole-genome-wide linkage and IBS/IBD studies.

Hum Genome Var 2017 2;4:17041. Epub 2017 Nov 2.

Translational Genomics Group, Institute of Health and Biomedical Innovation, Translational Research Institute, Queensland University of Technology, Brisbane, Australia.

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http://dx.doi.org/10.1038/hgv.2017.41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5666909PMC
November 2017

Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3).

Mol Diagn Ther 2016 12;20(6):617-622

Departamento de Biologia, Universidade dos Açores, Rua da Mãe de Deus, Ponta Delgada, 9501-801, Açores, Portugal.

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http://dx.doi.org/10.1007/s40291-016-0235-yDOI Listing
December 2016

Killer-cell immunoglobulin-like receptors genotyping of 127 individuals from Terceira Island, Azores, Portugal.

Hum Immunol 2016 Dec 5;77(12):1113. Epub 2016 Aug 5.

SEEBMO, Hospital de Santo Espirito da ilha Terceira, Angra do Heroísmo, Portugal; Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal; Genetics & Arthritis Research Group (GARG), IBMC - Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1016/j.humimm.2016.08.002DOI Listing
December 2016

Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients.

Neuromolecular Med 2017 Mar 31;19(1):41-45. Epub 2016 May 31.

Department of Biology, University of the Azores, Rua Mãe de Deus, Apartado 1422, 9501-801, Ponta Delgada, Azores, Portugal.

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http://dx.doi.org/10.1007/s12017-016-8416-8DOI Listing
March 2017

HLA-A, -B, -C, -DQA1, -DQB1, -DRB1, -E, -F and -G genotyping of 130 individuals from Terceira Island, Azores, Portugal.

Hum Immunol 2016 Jun 1;77(6):445-6. Epub 2016 Apr 1.

SEEBMO, Hospital de Santo Espirito da ilha Terceira, Angra do Heroísmo, Portugal; Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal; Genetics & Arthritis Research Group (GARG), c IBMC - Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1016/j.humimm.2016.03.008DOI Listing
June 2016

Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias.

J Mol Neurosci 2016 Jan 10;58(1):83-7. Epub 2015 Oct 10.

Department of Biology/CIRN, University of the Azores, Rua da Mãe de Deus - Apartado 1422, 9501-801, Ponta Delgada, Azores, Portugal.

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http://link.springer.com/10.1007/s12031-015-0646-y
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http://dx.doi.org/10.1007/s12031-015-0646-yDOI Listing
January 2016

Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Meta Gene 2014 Dec 14;2:638-45. Epub 2014 Sep 14.

Centre of Research in Natural Resources (CIRN), Department of Biology, University of the Azores, 9501-801 Ponta Delgada, Azores, Portugal ; Institute for Molecular and Cell Biology (IBMC), University of Porto, 4150-180 Porto, Portugal.

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http://dx.doi.org/10.1016/j.mgene.2014.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287853PMC
December 2014

Effectiveness and safety of infliximab in two cases of severe chondrocalcinosis: nine years of follow-up.

Case Rep Rheumatol 2014 11;2014:536856. Epub 2014 Nov 11.

University of Queensland, Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Brisbane, QLD 4192, Australia.

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http://dx.doi.org/10.1155/2014/536856DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243763PMC
December 2014

Anti-inflammatory guaiane-type sesquiterpenes from the fruits of Pittosporum undulatum.

Phytochemistry 2013 Nov 28;95:308-14. Epub 2013 Jul 28.

CITA-A, Department of Agricultural Sciences, University of Azores, Rua capitão João d'Ávila - Pico da Urze, 9700-042 Angra do Heroísmo, Azores, Portugal; iMed.UL, Faculty of Pharmacy, University of Lisbon, Av. Prof. Gama Pinto, 1649-003 Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.phytochem.2013.06.019DOI Listing
November 2013

Genetic study confirms association of HLA-DPA1(∗)01:03 subtype with ankylosing spondylitis in HLA-B27-positive populations.

Hum Immunol 2013 Jun 28;74(6):764-7. Epub 2013 Feb 28.

Department of Immunology, Hospital Universitario Central de Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1016/j.humimm.2013.02.001DOI Listing
June 2013

Transcript diversity of Machado-Joseph disease gene (ATXN3) is not directly determined by SNPs in exonic or flanking intronic regions.

J Mol Neurosci 2013 Mar 16;49(3):539-43. Epub 2012 Jun 16.

Institute for Molecular and Cell Biology (IBMC), University of Porto, 4150, Porto, Portugal.

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http://dx.doi.org/10.1007/s12031-012-9832-3DOI Listing
March 2013

Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis.

Rheumatol Int 2012 Sep 3;32(9):2745-51. Epub 2011 Aug 3.

Serviço Especializado de Epidemiologia e Biologia Molecular, Hospital de Santo Espírito, Angra do Heroísmo, Azores.

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http://dx.doi.org/10.1007/s00296-011-2022-8DOI Listing
September 2012

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.

Nat Genet 2011 Jul 10;43(8):761-7. Epub 2011 Jul 10.

Medical Research Council (MRC) Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Bristol, UK.

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http://dx.doi.org/10.1038/ng.873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3640413PMC
July 2011

The effects of vitrification on gene expression in mature mouse oocytes by nested quantitative PCR.

J Assist Reprod Genet 2010 Nov 17;27(11):599-604. Epub 2010 Aug 17.

Cellular and Molecular Biology Research Center, Medical School of Shaheed Beheshti University of Medical Sciences and Health Services, Parvaneh St. Yaman St. Chamran highway, Tehran, Iran.

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http://dx.doi.org/10.1007/s10815-010-9453-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995428PMC
November 2010

Genetic structure of the Azores Islands: a study using 15 autosomal short tandem repeat loci.

Coll Antropol 2009 Dec;33(4):991-9

Centre of Research in Natural Resources and Department of Biology, University of the Azores, S. Miguel, Azores.

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December 2009

Role of human leukocyte antigen, killer-cell immunoglobulin-like receptors, and cytokine gene polymorphisms in leptospirosis.

Hum Immunol 2009 Nov 13;70(11):915-20. Epub 2009 Aug 13.

Serviço Especializado de Epidemiologia e Biologia Molecular, Hospital de Santo Espírito de Angra do Heroísmo, Angra do Heroísmo, Azores, Portugal.

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http://dx.doi.org/10.1016/j.humimm.2009.08.007DOI Listing
November 2009

Alpha-1-antitrypsin deficiency in Madeira (Portugal): the highest prevalence in the world.

Respir Med 2009 Oct 17;103(10):1498-502. Epub 2009 May 17.

Human Genetics Laboratory, University of Madeira, Campus da Penteada, 9000-390 Funchal, Portugal.

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http://dx.doi.org/10.1016/j.rmed.2009.04.012DOI Listing
October 2009

The coexistence of ankylosing spondylitis and diffuse idiopathic skeletal hyperostosis--a postmortem diagnosis.

Clin Rheumatol 2009 Mar 17;28(3):353-6. Epub 2008 Dec 17.

Research Centre in Natural Resources (CIRN) and Department of Biology, Universidade dos Açores, S. Miguel, Azores, Portugal.

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http://dx.doi.org/10.1007/s10067-008-1068-9DOI Listing
March 2009

Discrepancies in HLA typing by PCR-SSOP and SBT techniques: a case study.

Hum Biol 2007 Oct;79(5):537-43

Human Genetics Laboratory, University of Madeira, Campus of Penteada, 9000-399 Funchal, Portugal.

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http://www.bioone.org/doi/abs/10.1353/hub.2008.0001
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http://dx.doi.org/10.1353/hub.2008.0001DOI Listing
October 2007

Characterisation of human papillomavirus (HPV) genotypes in the Azorean population, Terceira island.

Infect Agent Cancer 2008 Apr 21;3. Epub 2008 Apr 21.

Serviço Especializado de Epidemiologia e Biologia Molecular (SEEBMO), Hospital de Santo Espírito de Angra do Heroísmo, Portugal.

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http://dx.doi.org/10.1186/1750-9378-3-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2367456PMC
April 2008

Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).

J Hum Genet 2008 20;53(4):333-339. Epub 2008 Feb 20.

Department of Biology/CIRN, University of the Azores, Rua Mãe de Deus, Apartado 1422, 9501-801, Ponta Delgada, Azores, Portugal.

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http://dx.doi.org/10.1007/s10038-008-0261-7DOI Listing
June 2008

A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis.

Calcif Tissue Int 2007 Aug 11;81(2):81-4. Epub 2007 Jul 11.

Serviço Especializado de Epidemiologia e Biologia Molecular, Hospital de Santo Espírito and Instituto de Biologia Molecular e Celular da Universidade do Porto, Angra do Heroísmo, Açores, GARG/IBMC, 9700-856, Porto, Portugal.

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http://link.springer.com/content/pdf/10.1007/s00223-007-9043
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http://link.springer.com/10.1007/s00223-007-9043-z
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http://dx.doi.org/10.1007/s00223-007-9043-zDOI Listing
August 2007

HLA polymorphisms in Cabo Verde and Guiné-Bissau inferred from sequence-based typing.

Hum Immunol 2005 Oct 26;66(10):1082-92. Epub 2005 Oct 26.

Human Genetics Laboratory, University of Madeira, Campus of Penteada, Funchal, Portugal.

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http://dx.doi.org/10.1016/j.humimm.2005.09.001DOI Listing
October 2005

HLA genes in Madeira Island (Portugal) inferred from sequence-based typing: footprints from different origins.

Mol Immunol 2006 Apr 4;43(10):1726-8. Epub 2005 Nov 4.

Human Genetics Laboratory, University of Madeira, Campus of Penteada, 9000-399 Funchal, Portugal.

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http://linkinghub.elsevier.com/retrieve/pii/S016158900500357
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http://dx.doi.org/10.1016/j.molimm.2005.10.001DOI Listing
April 2006

Linkage disequilibrium between S65C HFE mutation and HLA A29-B44 haplotype in Terceira Island, Azores.

Hum Immunol 2003 Jun;64(6):625-8

Serviço de Imunogenética, Hospital de Santo Espírito de Angra do Heroísmo, Azores, Portugal.

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http://dx.doi.org/10.1016/s0198-8859(03)00052-1DOI Listing
June 2003