Antonio Amorim

Antonio Amorim

UNVERIFIED PROFILE

Are you Antonio Amorim?   Register this Author

Register author
Antonio Amorim

Antonio Amorim

Publications by authors named "Antonio Amorim"

Are you Antonio Amorim?   Register this Author

100Publications

3091Reads

45Profile Views

Mitochondrial DNA in human identification: a review.

PeerJ 2019 13;7:e7314. Epub 2019 Aug 13.

Instituto Universitário Egas Moniz (IUEM), Almada, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7717/peerj.7314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6697116PMC
August 2019

Essential genetic findings in neurodevelopmental disorders.

Hum Genomics 2019 Jul 9;13(1):31. Epub 2019 Jul 9.

i3S - Instituto de Investigação e Inovação em Saúde, Population Genetics and Evolution Group, Universidade do Porto, Rua Alfredo Allen 208, 4200-135, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40246-019-0216-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617629PMC
July 2019

Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor.

Eur J Hum Genet 2019 Jun 12. Epub 2019 Jun 12.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-019-0449-7DOI Listing
June 2019

Spatially explicit analysis reveals complex human genetic gradients in the Iberian Peninsula.

Sci Rep 2019 May 24;9(1):7825. Epub 2019 May 24.

Institute of Evolutionary Biology (CSIC-UPF). Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41598-019-44121-6
Publisher Site
http://dx.doi.org/10.1038/s41598-019-44121-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6534591PMC
May 2019

Unusual β-Globin Haplotype Distribution in Newborns from Bengo, Angola.

Hemoglobin 2019 May 8;43(3):149-154. Epub 2019 Aug 8.

Centro de Investigação em Saúde de Angola (CISA) , Caxito , Bengo , Angola.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/03630269.2019.1647230DOI Listing
May 2019

Evaluation of InnoQuant HY and InnoTyper 21 kits in the DNA analysis of rootless hair samples.

Forensic Sci Int Genet 2019 03 17;39:61-65. Epub 2018 Dec 17.

Departamento de Biologia, Faculdade de Ciências, Universidade do Porto, Portugal; i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal; IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fsigen.2018.12.005DOI Listing
March 2019

A Pipeline to Assess Disease-Associated Haplotypes in Repeat Expansion Disorders: The Example of MJD/SCA3 .

Front Genet 2019 5;10:38. Epub 2019 Feb 5.

i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2019.00038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370646PMC
February 2019

Determination of Azole Resistance and TR/L98H Mutations in Isolates of Aspergillus Section Fumigati from Turkish Cystic Fibrosis Patients.

Mycopathologia 2018 Dec 6;183(6):913-920. Epub 2018 Sep 6.

Istanbul Medical Faculty, Department of Medical Microbiology, Istanbul University, 34093, Capa, Istanbul, Turkey.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s11046-018-0297-y
Publisher Site
http://dx.doi.org/10.1007/s11046-018-0297-yDOI Listing
December 2018

Microbial forensics: new breakthroughs and future prospects.

Appl Microbiol Biotechnol 2018 Dec 9;102(24):10377-10391. Epub 2018 Oct 9.

i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135, Porto, Portugal.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00253-018-9414-6
Publisher Site
http://dx.doi.org/10.1007/s00253-018-9414-6DOI Listing
December 2018

Multicomponent new particle formation from sulfuric acid, ammonia, and biogenic vapors.

Sci Adv 2018 Dec 12;4(12):eaau5363. Epub 2018 Dec 12.

Institute for Atmospheric and Earth System Research/Physics, Faculty of Science, University of Helsinki, P.O. Box 64, FI-00014 Helsinki, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/sciadv.aau5363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291317PMC
December 2018

Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance.

Nat Commun 2018 12 19;9(1):5388. Epub 2018 Dec 19.

Ministry of Education Key Laboratory of Contemporary Anthropology and Collaborative Innovation Center of Genetics and Development, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, 200433, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-018-07748-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6300600PMC
December 2018

Big data in forensic genetics.

Forensic Sci Int Genet 2018 11 2;37:102-105. Epub 2018 Aug 2.

Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Porto, Portugal; Instituto de Investigação e Inovação em Saúde (i3s), Universidade do Porto, Porto, Portugal; CMUP, Centro de Matemática da Universidade do Porto, Porto, Portugal. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fsigen.2018.08.001DOI Listing
November 2018

Rapid growth of organic aerosol nanoparticles over a wide tropospheric temperature range.

Proc Natl Acad Sci U S A 2018 09 28;115(37):9122-9127. Epub 2018 Aug 28.

Faculty of Physics, University of Vienna, 1090 Vienna, Austria;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1807604115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140529PMC
September 2018

The mitogenomic phylogeny of the Elasmobranchii (Chondrichthyes).

Mitochondrial DNA A DNA Mapp Seq Anal 2018 08 20;29(6):867-878. Epub 2017 Sep 20.

a Departamento de Ecologia, Laboratório de Diagnósticos por DNA , Instituto de Biologia Roberto Alcântara Gomes, Universidade do Estado do Rio de Janeiro , Rio de Janeiro , Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/24701394.2017.1376052DOI Listing
August 2018

The Eastern side of the Westernmost Europeans: Insights from subclades within Y-chromosome haplogroup J-M304.

Am J Hum Biol 2018 03 29;30(2). Epub 2017 Nov 29.

Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajhb.23082DOI Listing
March 2018

Internal validation of two new retrotransposons-based kits (InnoQuant HY and InnoTyper 21) at a forensic lab.

Forensic Sci Int 2018 Feb 29;283:1-8. Epub 2017 Nov 29.

Departamento de Biologia, Faculdade de Ciências, Universidade do Porto, Portugal; i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal; IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.forsciint.2017.11.037DOI Listing
February 2018

Perinatal Chikungunya Virus-associated Encephalitis Leading to Postnatal-Onset Microcephaly and Optic Atrophy.

Pediatr Infect Dis J 2018 Jan;37(1):94-95

From the Department of Pediatric Infectious Diseases, Oswaldo Cruz Hospital, University of Pernambuco, Department of Neuropediatric, Oswaldo Cruz Hospital, University of Pernambuco, Department of Ophthalmology, Univision, and Department of Neuropediatric, Barão de Lucena Hospital, Recife, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/INF.0000000000001690DOI Listing
January 2018

Evaluating the Neolithic Expansion at Both Shores of the Mediterranean Sea.

Mol Biol Evol 2017 Dec;34(12):3232-3242

Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/molbev/msx256DOI Listing
December 2017

Forensic genetics and genomics: Much more than just a human affair.

PLoS Genet 2017 Sep 21;13(9):e1006960. Epub 2017 Sep 21.

Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1006960DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5608170PMC
September 2017

Key individuals for discerning pedigrees belonging to the same autosomal kinship class.

Forensic Sci Int Genet 2017 07 19;29:71-79. Epub 2017 Mar 19.

Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Porto, Portugal; Instituto de Investigação e Inovação em Saúde (i3s), Universidade do Porto, Porto, Portugal; CMUP, Centro de Matemática da Universidade do Porto, Porto, Portugal. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fsigen.2017.03.018DOI Listing
July 2017

Exact likelihood ratio calculations for pairwise cases.

Forensic Sci Int Genet 2017 07 27;29:218-224. Epub 2017 Apr 27.

Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Porto, Portugal; Instituto de Investigação e Inovação em Saúde (i3s), Universidade do Porto, Porto, Portugal; Faculdade de Ciências, Universidade do Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fsigen.2017.04.018DOI Listing
July 2017

Study of InDel genetic markers with forensic and ancestry informative interest in PALOP's immigrant populations in Lisboa.

Int J Legal Med 2017 May 29;131(3):657-660. Epub 2016 Oct 29.

Instituto Nacional de Medicina Legal e Ciências Forenses, Coimbra, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00414-016-1484-3DOI Listing
May 2017

Study of genetic markers of CODIS and ESS systems in a population of individuals from Cabo Verde living in Lisboa.

Int J Legal Med 2017 Jan 3;131(1):119-121. Epub 2016 Aug 3.

Instituto Nacional de Medicina Legal e Ciências Forenses, Lisboa, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00414-016-1431-3DOI Listing
January 2017

Formulation and communication of evaluative forensic science expert opinion-A GHEP-ISFG contribution to the establishment of standards.

Forensic Sci Int Genet 2016 11 7;25:210-213. Epub 2016 Sep 7.

Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Porto, Portugal; Instituto de Investigação e Inovação em Saúde (i3s), Universidade do Porto, Porto, Portugal; CMUP Centro de Matemática da Universidade do Porto, Porto, Portugal. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fsigen.2016.09.003DOI Listing
November 2016

Reduced anthropogenic aerosol radiative forcing caused by biogenic new particle formation.

Proc Natl Acad Sci U S A 2016 10 10;113(43):12053-12058. Epub 2016 Oct 10.

School of Earth and Environment, University of Leeds, Leeds LS2 9JT, United Kingdom;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1602360113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5087035PMC
October 2016

Single-tube PCR coupled with mini-sequencing assay for the detection of cyp51A and cyp51B polymorphisms in Aspergillus fumigatus.

Future Microbiol 2015 30;10(11):1797-804. Epub 2015 Oct 30.

IPATIMUP, Institute of Molecular Pathology & Immunology of the University of Porto, Rua Dr Roberto Frias s/n, 4200-465 Porto, Portugal.

View Article

Download full-text PDF

Source
https://www.futuremedicine.com/doi/10.2217/fmb.15.103
Publisher Site
http://dx.doi.org/10.2217/fmb.15.103DOI Listing
September 2016

Y chromosome diversity in a linguistic isolate (Mirandese, NE Portugal).

Am J Hum Biol 2016 09 18;28(5):671-80. Epub 2016 Mar 18.

Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajhb.22849DOI Listing
September 2016

Major influence of repetitive elements on disease-associated copy number variants (CNVs).

Hum Genomics 2016 Sep 23;10(1):30. Epub 2016 Sep 23.

Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Rua Alfredo Allen 208, 4200-135, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40246-016-0088-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035501PMC
September 2016

Sequencing CYP2D6 for the detection of poor-metabolizers in post-mortem blood samples with tramadol.

Forensic Sci Int 2016 Aug 11;265:153-9. Epub 2016 Feb 11.

National Institute of Legal Medicine and Forensic Sciences, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.forsciint.2016.02.004DOI Listing
August 2016

Ion-induced nucleation of pure biogenic particles.

Nature 2016 05;533(7604):521-6

Goethe University Frankfurt, Institute for Atmospheric and Environmental Sciences, 60438 Frankfurt am Main, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature17953DOI Listing
May 2016

Distinctive patterns of evolution of the δ-globin gene (HBD) in primates.

PLoS One 2015 8;10(4):e0123365. Epub 2015 Apr 8.

Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; IPATIMUP-Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal; Department of Biology, Faculty of Sciences, University of Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0123365PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390247PMC
March 2016

DivStat: a user-friendly tool for single nucleotide polymorphism analysis of genomic diversity.

PLoS One 2015 10;10(3):e0119851. Epub 2015 Mar 10.

IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Rua Dr. Roberto Frias s/n, 4200-465, Porto, Portugal; Faculty of Sciences, University of Porto, Rua do Campo Alegre s/n, 4169-007, Porto, Portugal.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0119851PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4355611PMC
January 2016

Admixture and genetic diversity distribution patterns of non-recombining lineages of Native American ancestry in Colombian populations.

PLoS One 2015 16;10(3):e0120155. Epub 2015 Mar 16.

Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0120155PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361580PMC
January 2016

Improving the in silico assessment of pathogenicity for compensated variants.

Eur J Hum Genet 2016 01 5;25(1):2-7. Epub 2016 Oct 5.

Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2016.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5159764PMC
January 2016

Recombination detection in Aspergillus fumigatus through single nucleotide polymorphisms typing.

Environ Microbiol Rep 2015 Dec 19;7(6):881-6. Epub 2015 Aug 19.

IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1758-2229.12321DOI Listing
December 2015

Reassessing the Evolutionary History of the 17q21 Inversion Polymorphism.

Genome Biol Evol 2015 Nov 11;7(12):3239-48. Epub 2015 Nov 11.

Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal Instituto de Patologia e Imunologia Molecular da Universidade do Porto-IPATIMUP, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/gbe/evv214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4700947PMC
November 2015

Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response.

Hum Genomics 2015 Sep 4;9:21. Epub 2015 Sep 4.

Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40246-015-0043-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559023PMC
September 2015

Genetic portrait of Lisboa immigrant population from Cabo Verde with mitochondrial DNA analysis.

J Genet 2015 Sep;94(3):509-12

Instituto Nacional de Medicina Legal e Ciencias Forenses-Delegacao do Sul, 1169-201, Lisboa, Portugal.

View Article

Download full-text PDF

Source
September 2015

Reply to letter from Felice L. Bedford and Doron Yacobi.

Eur J Hum Genet 2015 Aug 5;23(8):994-5. Epub 2014 Nov 5.

Faculty of Sciences, University of Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2014.232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795114PMC
August 2015

Association between Y haplogroups and autosomal AIMs reveals intra-population substructure in Bolivian populations.

Int J Legal Med 2015 Jul 31;129(4):673-80. Epub 2014 May 31.

DNA Forensic Laboratory, Argentinean Forensic Anthropology Team (EAAF), Córdoba, Argentina.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00414-014-1025-xDOI Listing
July 2015

Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants.

Eur J Hum Genet 2015 May 30;23(5):693-9. Epub 2014 Jul 30.

Faculty of Sciences, Biology Department, University of Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg2014140
Publisher Site
http://dx.doi.org/10.1038/ejhg.2014.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402619PMC
May 2015

The mutational spectrum of WT1 in male infertility.

J Urol 2015 May 11;193(5):1709-15. Epub 2014 Nov 11.

Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.juro.2014.11.004DOI Listing
May 2015

Reply to Sarre et al. "Defining specificity in DNA detection of wildlife".

Forensic Sci Int Genet 2015 May 11;16:e1-e2. Epub 2014 Nov 11.

Interdisciplinary Centre of Marine and Environmental Research (CIIMAR/CIMAR), University of Porto, Portugal. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fsigen.2014.10.024DOI Listing
May 2015

Colombia's racial crucible: Y chromosome evidence from six admixed communities in the Department of Bolivar.

Ann Hum Biol 2014 Sep-Oct;41(5):453-9. Epub 2013 Nov 11.

Pontificia Universidad Javeriana, Instituto de Genética Humana, Facultad de Medicina , Bogotá , Colombia .

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/03014460.2013.852244DOI Listing
April 2015

Genetic portrait of Lisboa immigrant population from Angola with mitochondrial DNA.

Forensic Sci Int Genet 2015 Mar 28;15:33-8. Epub 2014 Sep 28.

Instituto Nacional de Medicina Legal e Ciências Forenses, Portugal; Instituto Superior de Ciências de Saúde Egas Moniz, Portugal; Faculdade de Ciências da Universidade de Lisboa, Portugal; CENCIFOR - Centro de Ciências Forenses, Portugal. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fsigen.2014.09.013DOI Listing
March 2015

Portuguese mitochondrial DNA genetic diversity-An update and a phylogenetic revision.

Forensic Sci Int Genet 2015 Mar 14;15:27-32. Epub 2014 Oct 14.

Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fsigen.2014.10.004DOI Listing
March 2015

The peopling of Greenland: further insights from the analysis of genetic diversity using autosomal and X-chromosomal markers.

Eur J Hum Genet 2015 Feb 7;23(2):245-51. Epub 2014 May 7.

Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen Ø, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2014.90DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297915PMC
February 2015

Portuguese crypto-Jews: the genetic heritage of a complex history.

Front Genet 2015 2;6:12. Epub 2015 Feb 2.

Institute of Molecular Pathology and Immunology of the University of Porto Porto, Portugal ; Faculty of Sciences, University of Porto Porto, Portugal ; Instituto de Investigaç ao e Inovaç ao em Saúde, Universidade do Porto Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2015.00012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4313780PMC
February 2015

The mitochondrial genome of the pinewood nematode (Bursaphelenchus xylophilus) lineage introduced in Europe.

Mitochondrial DNA 2014 Dec 10;25(6):420-1. Epub 2013 Jul 10.

Institute of Molecular Pathology and Immunology, University of Porto (IPATIMUP) , Porto , Portugal .

View Article

Download full-text PDF

Source
http://www.tandfonline.com/doi/full/10.3109/19401736.2013.80
Publisher Site
http://dx.doi.org/10.3109/19401736.2013.809438DOI Listing
December 2014

X-chromosome STR markers data in a Cabo Verde immigrant population of Lisboa.

Mol Biol Rep 2014 29;41(4):2559-69. Epub 2014 Jan 29.

Serviço de Genética e Biologia Forenses, Instituto Nacional de Medicina Legal e Ciências Forenses I.P., Delegação do Sul, Rua Manuel Bento de Sousa, no. 3, 1169-201, Lisboa, Portugal,

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s11033-014-3114
Web Search
http://link.springer.com/10.1007/s11033-014-3114-9
Publisher Site
http://dx.doi.org/10.1007/s11033-014-3114-9DOI Listing
December 2014

A forensic perspective on the genetic identification of grapevine (Vitis vinifera L.) varieties using STR markers.

Electrophoresis 2014 Nov 1;35(21-22):3201-7. Epub 2014 Oct 1.

Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Porto, Portugal; Faculdade de Ciências da Universidade do Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/elps.201400107DOI Listing
November 2014

Male lineage strata of Brazilian population disclosed by the simultaneous analysis of STRs and SNPs.

Forensic Sci Int Genet 2014 Nov 8;13:264-8. Epub 2014 Sep 8.

DNA Diagnostic Laboratory (LDD), Institute of Biology, State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fsigen.2014.08.017DOI Listing
November 2014

Evaluating the X chromosome-specific diversity of Colombian populations using insertion/deletion polymorphisms.

PLoS One 2014 31;9(1):e87202. Epub 2014 Jan 31.

IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal ; DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0087202PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909073PMC
October 2014

Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes.

Hum Genet 2014 Oct 16;133(10):1311-8. Epub 2014 Jul 16.

Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, 3801 rue University, Montreal, QC, H3A2B4, Canada,

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00439-014-1467-8
Publisher Site
http://dx.doi.org/10.1007/s00439-014-1467-8DOI Listing
October 2014

Diversity in the androgen receptor CAG repeat has been shaped by a multistep mutational mechanism.

Am J Med Genet B Neuropsychiatr Genet 2014 Oct 31;165B(7):581-6. Epub 2014 Jul 31.

IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.32261DOI Listing
October 2014

The role of recombination in the origin and evolution of Alu subfamilies.

PLoS One 2013 4;8(6):e64884. Epub 2013 Jun 4.

IPATIMUP-Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0064884PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3672193PMC
September 2014

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

Reprod Biomed Online 2014 Sep 16;29(3):388-91. Epub 2014 May 16.

Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.rbmo.2014.04.017DOI Listing
September 2014

Feasibility of mitochondrial single nucleotide polymorphisms to detect and identify Aspergillus fumigatus in clinical samples.

Diagn Microbiol Infect Dis 2014 Sep 19;80(1):53-8. Epub 2014 May 19.

IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.diagmicrobio.2014.05.007DOI Listing
September 2014

NAMPT and NAPRT1: novel polymorphisms and distribution of variants between normal tissues and tumor samples.

Sci Rep 2014 Sep 9;4:6311. Epub 2014 Sep 9.

1] IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Rua Dr. Roberto Frias s/n, 4200-465 Porto, Portugal [2] IEETA - Institute of Electronics and Telematics Engineering of Aveiro, University of Aveiro, Santiago Campus, 3810-193 Aveiro, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/srep06311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4158320PMC
September 2014

SNaPAfu: a novel single nucleotide polymorphism multiplex assay for aspergillus fumigatus direct detection, identification and genotyping in clinical specimens.

PLoS One 2013 18;8(10):e75968. Epub 2013 Oct 18.

Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal ; Faculty of Sciences, University of Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0075968PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3799902PMC
August 2014

The risks of using "species-specific" PCR assays in wildlife research: The case of red fox (Vulpes vulpes) identification in Tasmania.

Forensic Sci Int Genet 2014 Jul 28;11:e9-11. Epub 2014 Mar 28.

Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Rua Dr. Roberto Frias s/n, 4200-465 Porto, Portugal; Interdisciplinary Centre of Marine and Environmental Research (CIIMAR/CIMAR), University of Porto, Rua dos Bragas 289, 4050-123 Porto, Portugal. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S18724973140006
Publisher Site
http://dx.doi.org/10.1016/j.fsigen.2014.03.009DOI Listing
July 2014

Frequency and pattern of heteroplasmy in the complete human mitochondrial genome.

PLoS One 2013 2;8(10):e74636. Epub 2013 Oct 2.

Unitat d'Antropologia Biològica, Departament de Biologia Animal, Biologia Vegetal i Ecologia, Universitat Autònoma de Barcelona, Cerdanyola del Vallès, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0074636PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3788774PMC
June 2014

The 8p23 inversion polymorphism determines local recombination heterogeneity across human populations.

Genome Biol Evol 2014 Apr;6(4):921-30

Doctoral Program in Areas of Basic and Applied Biology (GABBA), University of Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/gbe/evu064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4007553PMC
April 2014

Mutation and mutation rates at Y chromosome specific Short Tandem Repeat Polymorphisms (STRs): a reappraisal.

Forensic Sci Int Genet 2014 Mar 31;9:20-4. Epub 2013 Oct 31.

IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Rua Dr. Roberto Frias s/n, 4200-465 Porto, Portugal; Faculty of Sciences, University of Porto, Porto, Portugal. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fsigen.2013.10.008DOI Listing
March 2014

Tri-allelic pattern at the TPOX locus: a familial study.

Gene 2014 Feb 18;535(2):353-8. Epub 2013 Oct 18.

Faculdade de Biociências, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, RS, Brazil. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2013.10.019DOI Listing
February 2014

The evolutionary portrait of metazoan NAD salvage.

PLoS One 2013 28;8(5):e64674. Epub 2013 May 28.

IPATIMUP-Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0064674PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3665594PMC
January 2014

Mitochondrial DNA rearrangements in health and disease--a comprehensive study.

Hum Mutat 2014 Jan 18;35(1):1-14. Epub 2013 Oct 18.

Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Rua Dr. Roberto Frias s/n, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22452DOI Listing
January 2014

MitoBreak: the mitochondrial DNA breakpoints database.

Nucleic Acids Res 2014 Jan 28;42(Database issue):D1261-8. Epub 2013 Oct 28.

Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Rua Dr. Roberto Frias s/n, Porto 4200-465, Portugal, Faculty of Sciences, University of Porto, Rua do Campo Alegre, s/n, Porto 4169-007, Portugal and Interdisciplinary Centre of Marine and Environmental Research (CIIMAR/CIMAR), University of Porto, Rua dos Bragas 289, Porto 4050-123, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/nar/gkt982DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965124PMC
January 2014

Comparative performance between "next generation" multiplex systems and the new European Standard Set of STR markers in the Portuguese Population.

Forensic Sci Int Genet 2014 Jan 8;8(1):137-42. Epub 2013 Sep 8.

Department of Biology, Faculty of Sciences, University of Porto, Portugal; IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fsigen.2013.08.015DOI Listing
January 2014

Linguistic isolates in Portugal: insights from the mitochondrial DNA pattern.

Forensic Sci Int Genet 2013 Dec 3;7(6):618-23. Epub 2013 Sep 3.

Unitat d'Antropologia Biològica, Departament BABVE, Universitat Autònoma de Barcelona, Barcelona, Spain. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fsigen.2013.08.009DOI Listing
December 2013

Molecular understanding of sulphuric acid-amine particle nucleation in the atmosphere.

Nature 2013 Oct 6;502(7471):359-63. Epub 2013 Oct 6.

Goethe-University of Frankfurt, Institute for Atmospheric and Environmental Sciences, 60438 Frankfurt am Main, Germany.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/nature12663
Publisher Site
http://dx.doi.org/10.1038/nature12663DOI Listing
October 2013

Sequence comparison alignment-free approach based on suffix tree and L-words frequency.

ScientificWorldJournal 2012 10;2012:450124. Epub 2012 Sep 10.

Faculdade de Ciências da Universidade do Porto, 4169 Porto, Portugal.

View Article

Download full-text PDF

Source
http://www.hindawi.com/journals/tswj/2012/450124/
Publisher Site
http://dx.doi.org/10.1100/2012/450124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3444837PMC
March 2013

Paternity exclusion power: comparative behaviour of autosomal and X-chromosomal markers in standard and deficient cases with inbreeding.

Forensic Sci Int Genet 2013 Feb 9;7(2):290-5. Epub 2013 Jan 9.

IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fsigen.2012.12.002DOI Listing
February 2013

On the structural plasticity of the human genome: chromosomal inversions revisited.

Curr Genomics 2012 Dec;13(8):623-32

Doctoral Program in Areas of Basic and Applied Biology (GABBA), University of Porto, Portugal ; IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal ; Instituto Gulbenkian de Ciência (IGC), Oeiras, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2174/138920212803759703DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3492802PMC
December 2012

mtDNAoffice: a software to assign human mtDNA macro haplogroups through automated analysis of the protein coding region.

Mitochondrion 2012 Nov 18;12(6):666-8. Epub 2012 Aug 18.

Faculdade de Ciências da Universidade do Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2012.08.003DOI Listing
November 2012

Comparative evaluation of alternative batteries of genetic markers to complement autosomal STRs in kinship investigations: autosomal indels vs. X-chromosome STRs.

Int J Legal Med 2012 Nov 1;126(6):917-21. Epub 2012 Sep 1.

Institute of Molecular Pathology and Immunology, University of Porto, 4200-465, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00414-012-0768-5DOI Listing
November 2012

SPInDel: a multifunctional workbench for species identification using insertion/deletion variants.

Mol Ecol Resour 2012 Nov 15;12(6):1190-5. Epub 2012 Sep 15.

Institute of Molecular Pathology and Immunology, University of Porto (IPATIMUP), Porto, Portugal.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/1755-0998.12011
Publisher Site
http://dx.doi.org/10.1111/1755-0998.12011DOI Listing
November 2012

New method for the simultaneous identification of cow, sheep, goat, and water buffalo in dairy products by analysis of short species-specific mitochondrial DNA targets.

J Agric Food Chem 2012 Oct 15;60(42):10480-5. Epub 2012 Oct 15.

IPATIMUP-Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Dr. Roberto Frias s/n, 4200-465 Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1021/jf3029896DOI Listing
October 2012

Diversity and specificity of microsatellites within Aspergillus section Fumigati.

BMC Microbiol 2012 Jul 28;12:154. Epub 2012 Jul 28.

IPATIMUP, Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2180-12-154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3438126PMC
July 2012