Claudia Carvalho

Claudia Carvalho

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Claudia Carvalho

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Apolipoprotein E isoforms and susceptibility to genetic generalized epilepsies.

Int J Neurosci 2020 Jan 6:1-6. Epub 2020 Jan 6.

Unidade Multidisciplinar de Investigação Biomédica, Instituto Ciências Biomédicas Abel Salazar, Universidade do Porto (UMIB/ICBAS-UP), Porto, Portugal.

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http://dx.doi.org/10.1080/00207454.2019.1709840DOI Listing
January 2020

sp. nov. and sp. nov., two novel basidiomycetous yeast species isolated from grape and apple must in Italy.

Int J Syst Evol Microbiol 2019 Nov;69(11):3385-3391

PYCC - Portuguese Yeast Culture Collection, Departamento de Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa, Caparica, Portugal.

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http://dx.doi.org/10.1099/ijsem.0.003626DOI Listing
November 2019

Hepatic abscess secondary to gastric perforation.

BMJ Case Rep 2019 Jun 26;12(6). Epub 2019 Jun 26.

Infectious Diseases, Centro Hospitalar de Sao Joao EPE, Porto, Portugal.

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http://dx.doi.org/10.1136/bcr-2019-230452DOI Listing
June 2019

[Lost guide wire - lessons learned].

Rev Bras Anestesiol 2018 Mar - Apr;68(2):183-185. Epub 2016 Dec 22.

Centro Hospitalar de Lisboa Ocidental, Lisboa, Portugal.

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http://dx.doi.org/10.1016/j.bjan.2016.12.004DOI Listing
May 2019

Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.

Cell 2019 03 28;176(6):1310-1324.e10. Epub 2019 Feb 28.

Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA; Department of Pediatrics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Dan L. Duncan Comprehensive Cancer Center, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2019.01.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438178PMC
March 2019

Defining therapeutic empathy: the philosopher's view.

J R Soc Med 2019 03;112(3):91-95

4 ISPA Instituto Universitario Lisbon, Lisbon 1149-041, Portugal.

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http://dx.doi.org/10.1177/0141076819831869DOI Listing
March 2019

Mycobacterial blood cultures in the diagnosis of tuberculosis in human immunodeficiency virus-infected patients: are they useful?

Clin Microbiol Infect 2019 Feb 26;25(2):264-265. Epub 2018 Sep 26.

Faculty of Medicine of the University of Porto, Porto, Portugal; EpiUnit - Instituto de Saúde Pública da Universidade do Porto, Porto, Portugal.

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https://linkinghub.elsevier.com/retrieve/pii/S1198743X183063
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http://dx.doi.org/10.1016/j.cmi.2018.09.013DOI Listing
February 2019

Dietary Fiber Intake (Supplemental or Dietary Pattern Rich in Fiber) and Diabetic Kidney Disease: A Systematic Review of Clinical Trials.

Nutrients 2019 Feb 6;11(2). Epub 2019 Feb 6.

Endocrine Division, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul. Rua Ramiro Barcelos 2350, Prédio 12, 4º andar, 90035-003, Porto Alegre-RS, Brazil.

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http://dx.doi.org/10.3390/nu11020347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6412295PMC
February 2019

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.

Hum Mutat 2018 10 22;39(10):1456-1467. Epub 2018 Aug 22.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1002/humu.23605DOI Listing
October 2018

Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus.

J Endocr Soc 2018 Oct 3;2(10):1100-1108. Epub 2018 Aug 3.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland.

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http://dx.doi.org/10.1210/js.2018-00156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6137279PMC
October 2018

Zygotorulaspora chibaensis sp. nov. and Zygotorulaspora danielsina sp. nov., novel ascomycetous yeast species from tree bark and soil.

Int J Syst Evol Microbiol 2018 Aug 22;68(8):2633-2637. Epub 2018 Jun 22.

1​UCIBIO-REQUIMTE, Departamento de Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa, Caparica, Portugal.

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http://dx.doi.org/10.1099/ijsem.0.002889DOI Listing
August 2018

Blastobotrys bombycis sp. nov., a d-xylose-fermenting yeast isolated from the gut of the silkworm larva Bombyx mori.

Int J Syst Evol Microbiol 2018 Aug 27;68(8):2638-2643. Epub 2018 Jun 27.

2​National Fungal Culture Collection of India (NFCCI), Biodiversity and Palaeobiology Group, MACS-Agharkar Research Institute, G.G. Agarkar Road, Pune 411004, India.

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http://www.microbiologyresearch.org/content/journal/ijsem/10
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http://dx.doi.org/10.1099/ijsem.0.002890DOI Listing
August 2018

Immunogenetic predisposing factors for mesial temporal lobe epilepsy with hippocampal sclerosis.

Int J Neurosci 2018 Apr;128(4):305-310

a UMIB - Instituto de Ciências Biomédicas Abel Salazar [ICBAS] - Universidade do Porto - Rua Jorge Viterbo Ferreira , Porto , Portugal.

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http://dx.doi.org/10.1080/00207454.2017.1349122DOI Listing
April 2018

Analysis of the linguistic profile in down syndrome using the arizona battery for communication disorders of dementia - a pilot study.

Codas 2018 Mar 12;30(2):e20170164. Epub 2018 Mar 12.

Departamento de Psiquiatria, Faculdade de Medicina da Universidade de São Paulo - USP - São Paulo (SP), Brazil.

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http://dx.doi.org/10.1590/2317-1782/20182017164DOI Listing
March 2018

Brain expression of inflammatory mediators in Mesial Temporal Lobe Epilepsy patients.

J Neuroimmunol 2017 12 6;313:82-88. Epub 2017 Nov 6.

UMIB - Instituto de Ciências Biomédicas Abel Salazar [ICBAS], Universidade do Porto, Rua Jorge Viterbo Ferreira, 228, 4050-313 Porto, Portugal; Departamento de Genética, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto Rua Pedro Nunes, n.° 88; 4099-032 Porto, Portugal.

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http://dx.doi.org/10.1016/j.jneuroim.2017.10.014DOI Listing
December 2017

Psoriasis pharmacogenetics: HLA-Cw*0602 as a marker of therapeutic response to ustekinumab.

Eur J Dermatol 2017 10;27(5):528-530

Department of Dermatology, Centro Hospitalar do Porto, Portugal, Instituto de Ciências Biomédicas Abel Salazar, University of Porto, Portugal, Dermatology Research Unit, Centro Hospitalar do Porto, Portugal.

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http://dx.doi.org/10.1684/ejd.2017.3071DOI Listing
October 2017

Age of onset of mesial temporal lobe epilepsy with hippocampal sclerosis: the effect of apolipoprotein E and febrile seizures.

Int J Neurosci 2017 Sep 12;127(9):800-804. Epub 2016 Dec 12.

a Unidade Multidisciplinar de Investigação Biomédica , Instituto Ciências Biomédicas Abel Salazar, Universidade do Porto (UMIB/ICBAS-UP) , Porto , Portugal.

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http://dx.doi.org/10.1080/00207454.2016.1264396DOI Listing
September 2017

The vitamin D receptor gene FokI polymorphism and Multiple Sclerosis in a Northern Portuguese population.

J Neuroimmunol 2017 08 11;309:34-37. Epub 2017 May 11.

Unit for Multidisciplinary Research in Biomedicine (UMIB), Abel Salazar Institute of Biomedical Sciences (ICBAS), University of Porto (UP), Porto, Portugal; Department of Neurology, Centro Hospitalar do Porto-Hospital de Santo António (CHP-HSA), Porto, Portugal; Unidade de Imunologia Clínica (UIC), Centro Hospitalar do Porto-Hospital de Santo António (CHP-HSA), Porto, Portugal.

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http://dx.doi.org/10.1016/j.jneuroim.2017.05.005DOI Listing
August 2017

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

Am J Hum Genet 2017 Jul;101(1):149-156

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501868PMC
July 2017

Genotoxic and Cytotoxic Effects of Antiretroviral Combinations in Mice Bone Marrow.

PLoS One 2016 2;11(11):e0165706. Epub 2016 Nov 2.

Laboratório de Radiobiologia e Mutagênese, Departamento de Genética, Instituto de Ciências Biológicas (ICB), Campus Samambaia, Universidade Federal de Goiás (UFG), Caixa Postal 131, 74001-970, Goiânia, GO, Brazil.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0165706PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5091838PMC
June 2017

Reply.

Pain 2017 06;158(6):1179-1180

Department of Clinical and Health Psychology, Instituto Universitario de Ciencias Psicologicas, Sociais e da Vida, Rua Jardim do Tabaco, Lisbon, Portugal.

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http://dx.doi.org/10.1097/j.pain.0000000000000885DOI Listing
June 2017

An unusual cause of chest discomfort: case report of oesophageal hirudiniasis.

J Parasit Dis 2017 Jun 29;41(2):596-598. Epub 2016 Aug 29.

Infectious Diseases Department and Faculdade de Medicina da Universidade do Porto, Centro Hospitalar São João, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal.

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http://dx.doi.org/10.1007/s12639-016-0829-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5447606PMC
June 2017

Libkindia masarykiana gen. et sp. nov., Yurkovia mendeliana gen. et sp. nov. and Leucosporidium krtinense f.a. sp. nov., isolated from temperate forest soils.

Int J Syst Evol Microbiol 2017 Apr 5;67(4):902-908. Epub 2017 May 5.

Laboratory of Environmental Microbiology, Institute of Microbiology of the CAS, Vídeňská 1083, 14220 Praha 4, Czech Republic.

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http://dx.doi.org/10.1099/ijsem.0.001707DOI Listing
April 2017

Reply.

Pain 2017 03;158(3):536-537

aDepartment of Clinical and Health Psychology, ISPA-Instituto Universitário de Ciências Psicológicas, Sociais e da Vida, Lisbon, Portugal bProgram in Placebo Studies, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1097/j.pain.0000000000000795DOI Listing
March 2017

Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis.

Stem Cell Reports 2017 03 16;8(3):519-528. Epub 2017 Feb 16.

Departments of Neuroscience, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2017.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5355568PMC
March 2017

An Organismal CNV Mutator Phenotype Restricted to Early Human Development.

Cell 2017 02;168(5):830-842.e7

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2017.01.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407901PMC
February 2017

Open-label placebo treatment in chronic low back pain: a randomized controlled trial.

Pain 2016 12;157(12):2766-2772

aISPA-Instituto Universitário de Ciências Psicológicas, Sociais e da Vida, Department of Clinical and Health Psychology, Lisbon, Portugal bNova Medical School-Faculdade de Ciências Médicas, da Universidade Nova de Lisboa, Lisbon, Portugal cUnidade de Terapia de Dor do Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal dProgram in Placebo Studies, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1097/j.pain.0000000000000700DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5113234PMC
December 2016

Chronic Q fever: A missed prosthetic valve endocarditis possibly for years.

IDCases 2016 17;6:55-57. Epub 2016 Sep 17.

Infectious Diseases Department, Centro Hospitalar de São João, Alameda Prof. Hernâni Monteiro, Instituto de Inovação e Investigação em Saúde (I3S), Grupo de I&D em Nefrologia e Doenças Infeciosas, Instituto Nacional de Engenharia Biomédica (INEB), Porto, Portugal.

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http://dx.doi.org/10.1016/j.idcr.2016.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5048103PMC
September 2016

The Protective Role of HLA-DRB1(∗)13 in Autoimmune Diseases.

J Immunol Res 2015 29;2015:948723. Epub 2015 Oct 29.

Immunogenetics Laboratory, Instituto de Ciências Biomédicas Abel Salazar-Universidade do Porto (ICBAS-UP), Rua de Jorge Viterbo Ferreira No. 228, 4050-313 Porto, Portugal ; Unit for Multidisciplinary Research in Biomedicine (UMIB), Abel Salazar Institute of Biomedical Sciences (ICBAS), University of Porto (UP), Rua de Jorge Viterbo Ferreira No. 228, 4050-313 Porto, Portugal.

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http://dx.doi.org/10.1155/2015/948723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641944PMC
August 2016

Mechanisms underlying structural variant formation in genomic disorders.

Nat Rev Genet 2016 Apr 29;17(4):224-38. Epub 2016 Feb 29.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1038/nrg.2015.25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4827625PMC
April 2016

Multigene assessment of the species boundaries and sexual status of the basidiomycetous yeasts Cryptococcus flavescens and C. terrestris (Tremellales).

PLoS One 2015 26;10(3):e0120400. Epub 2015 Mar 26.

Centro de Recursos Microbiológicos, Departamento de Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa, Caparica, Portugal.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0120400PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374795PMC
March 2016

Systemic effects of oral tolerance reduce the cutaneous scarring.

Immunobiology 2016 Mar 23;221(3):475-85. Epub 2015 Nov 23.

Departamento de Morfologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Av. Antônio Carlos 6627, Pampulha, Belo Horizonte, MG CEP: 31270-901, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.imbio.2015.11.002DOI Listing
March 2016

Optimisation of gellan gum edible coating for ready-to-eat mango (Mangifera indica L.) bars.

Int J Biol Macromol 2016 Mar 2;84:43-53. Epub 2015 Dec 2.

LAQV, REQUIMTE, Departamento de Química, Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa, 2829-516 Caparica, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.ijbiomac.2015.11.079DOI Listing
March 2016

Local climatic conditions constrain soil yeast diversity patterns in Mediterranean forests, woodlands and scrub biome.

FEMS Yeast Res 2016 Feb 13;16(1):fov103. Epub 2015 Nov 13.

UCIBIO-REQUIMTE, Departamento de Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa, 2829-516 Caparica, Portugal.

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http://dx.doi.org/10.1093/femsyr/fov103DOI Listing
February 2016

Jaminaea phylloscopi sp. nov. (Microstromatales), a basidiomycetous yeast isolated from migratory birds in the Mediterranean basin.

Int J Syst Evol Microbiol 2016 Feb 26;66(2):824-829. Epub 2015 Nov 26.

Dipartimento Scienze Agrarie e Forestali, Università degli Studi di Palermo, Viale delle Scienze 4, 90128 Palermo, Italy.

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http://dx.doi.org/10.1099/ijsem.0.000801DOI Listing
February 2016

sp. nov. and f.a. sp. nov., isolated from Mediterranean forest soils.

Int J Syst Evol Microbiol 2016 Feb 10;66(2):1058-1062. Epub 2015 Dec 10.

UCIBIO-REQUIMTE, Departamento de Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa, Caparica, Portugal.

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http://dx.doi.org/10.1099/ijsem.0.000835DOI Listing
February 2016

Chimeric transcripts resulting from complex duplications in chromosome Xq28.

Hum Genet 2016 Feb 14;135(2):253-6. Epub 2015 Dec 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604 BG, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-015-1614-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5485664PMC
February 2016

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

Am J Hum Genet 2015 Nov;97(5):691-707

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297150040
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http://dx.doi.org/10.1016/j.ajhg.2015.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667131PMC
November 2015

The Strongest Correlates of PTSD for Firefighters: Number, Recency, Frequency, or Perceived Threat of Traumatic Events?

J Trauma Stress 2015 Oct 21;28(5):434-40. Epub 2015 Sep 21.

School of Psychology, University of Minho, Braga, Portugal.

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http://doi.wiley.com/10.1002/jts.22035
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http://dx.doi.org/10.1002/jts.22035DOI Listing
October 2015

Obstructive sleep apnoea syndrome and HLA in the North of Portugal.

Rev Neurol 2015 Oct;61(7):301-7

Hospital de Santo Antonio/Centro Hospitalar do Porto, Porto, Portugal.

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October 2015

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

Hum Mol Genet 2015 Jul 23;24(14):4061-77. Epub 2015 Apr 23.

Department of Molecular & Human Genetics, Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA, Texas Children's Hospital, Houston, TX 77030, USA and

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http://dx.doi.org/10.1093/hmg/ddv146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4476451PMC
July 2015

Hepatitis C and leptospirosis: simultaneous acute infections or recurrence of occult hepatitis C.

BMJ Case Rep 2015 Jul 1;2015. Epub 2015 Jul 1.

Department of Infectious Diseases, São João's University Hospital, Porto, Portugal.

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http://dx.doi.org/10.1136/bcr-2015-209929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4493179PMC
July 2015

On the origin of immunopathology.

J Theor Biol 2015 Jun 14;375:61-70. Epub 2014 Jun 14.

Departamento de Morfologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, 31270-901, MG, Brazil.

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http://dx.doi.org/10.1016/j.jtbi.2014.06.006DOI Listing
June 2015

Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.

PLoS One 2014 9;9(9):e107028. Epub 2014 Sep 9.

Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas, United States of America; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, United States of America; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0107028PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4159299PMC
May 2015

Absence of heterozygosity due to template switching during replicative rearrangements.

Am J Hum Genet 2015 Apr 19;96(4):555-64. Epub 2015 Mar 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385179PMC
April 2015

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.

PLoS Genet 2015 Mar 6;11(3):e1005050. Epub 2015 Mar 6.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America; Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America; Texas Children's Hospital, Houston, Texas, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352052PMC
March 2015

Effect of a protein-free diet in the development of food allergy and oral tolerance in BALB/c mice.

Br J Nutr 2015 Mar 11;113(6):935-43. Epub 2015 Mar 11.

Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas,Universidade Federal de Minas Gerais, Belo Horizonte,Avenida Antônio Carlos, 6627,31270-901,Minas Gerais,Brazil.

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http://dx.doi.org/10.1017/S0007114515000173DOI Listing
March 2015

CC chemokine receptor polymorphism CCR5Δ32 in Portuguese Behçet's disease patients.

Clin Exp Rheumatol 2014 Jul-Aug;32(4 Suppl 84):S72-4. Epub 2014 Sep 30.

UMIB, Instituto de Ciências Biomédicas Abel Salazar (ICBAS-UP), Porto, Portugal.

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December 2014

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.

Am J Hum Genet 2014 Nov 6;95(5):565-78. Epub 2014 Nov 6.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225592PMC
November 2014

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

Eur J Hum Genet 2014 Sep 15;22(9):1071-6. Epub 2014 Jan 15.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] The Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135413PMC
September 2014

Yeasts vectored by migratory birds collected in the Mediterranean island of Ustica and description of Phaffomyces usticensis f.a. sp. nov., a new species related to the cactus ecoclade.

FEMS Yeast Res 2014 Sep 28;14(6):910-21. Epub 2014 Jul 28.

Department of Agricultural and Forest Science, University of Palermo, Palermo, Italy; Centro de Recursos Microbiológicos, Departamento de Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa, Caparica, Portugal.

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http://dx.doi.org/10.1111/1567-1364.12179DOI Listing
September 2014

The role of KIR2DS1 in multiple sclerosis--KIR in Portuguese MS patients.

J Neuroimmunol 2014 Apr 28;269(1-2):52-5. Epub 2014 Jan 28.

UMIB - Instituto de Ciências Biomédicas Abel Salazar (ICBAS-UPorto), Porto Portugal.

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http://dx.doi.org/10.1016/j.jneuroim.2014.01.009DOI Listing
April 2014

Transverse myelitis and acute HIV infection: a case report.

BMC Infect Dis 2014 Mar 19;14:149. Epub 2014 Mar 19.

Department of Infectious Diseases, Hospital de São João and University of Porto Medical School, Porto, Portugal.

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http://dx.doi.org/10.1186/1471-2334-14-149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995161PMC
March 2014

Portuguese norms for the harvard group scale of hypnotic susceptibility, form a.

Int J Clin Exp Hypn 2013 ;61(2):219-31

Higher Institute of Applied Psychology, Lisbon, Portugal.

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http://dx.doi.org/10.1080/00207144.2013.753833DOI Listing
January 2014

Wickerhamomyces sylviae f.a., sp. nov., an ascomycetous yeast species isolated from migratory birds.

Int J Syst Evol Microbiol 2013 Dec 14;63(Pt 12):4824-30. Epub 2013 Oct 14.

Department of Agricultural and Forest Science, Università degli Studi di Palermo, Viale delle Scienze 4, 90128 Palermo, Italy.

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http://dx.doi.org/10.1099/ijs.0.056382-0DOI Listing
December 2013

Replicative mechanisms for CNV formation are error prone.

Nat Genet 2013 Nov 22;45(11):1319-26. Epub 2013 Sep 22.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. [2] Centro de Pesquisas René Rachou-FIOCRUZ, Belo Horizonte, Brazil.

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http://dx.doi.org/10.1038/ng.2768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3821386PMC
November 2013

The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism.

Autism Res 2013 Feb 20;6(1):42-50. Epub 2012 Nov 20.

Departments of Pediatrics and Psychiatry, Vanderbilt University, Nashville, TN, USA.

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http://dx.doi.org/10.1002/aur.1262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3578988PMC
February 2013

Inverted low-copy repeats and genome instability--a genome-wide analysis.

Hum Mutat 2013 Jan 11;34(1):210-20. Epub 2012 Oct 11.

Institute of Informatics, University of Warsaw, Warsaw, Poland.

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http://dx.doi.org/10.1002/humu.22217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738003PMC
January 2013

Prevalence of post-traumatic stress disorder and physical health complaints among Portuguese Army Special Operations Forces deployed in Afghanistan.

Mil Med 2012 Aug;177(8):957-62

Center for Research in Psychology, School of Psychology, University of Minho, Campus de Gualtar, 4710-057 Braga, Portugal.

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http://dx.doi.org/10.7205/milmed-d-12-00024DOI Listing
August 2012