António Amorim

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Publications in SciGraph latest 50 shown

  • 2018-12 Determination of Azole Resistance and TR34/L98H Mutations in Isolates of Aspergillus Section Fumigati from Turkish Cystic Fibrosis Patients in MYCOPATHOLOGIA
  • 2017-05 Study of InDel genetic markers with forensic and ancestry informative interest in PALOP’s immigrant populations in Lisboa in INTERNATIONAL JOURNAL OF LEGAL MEDICINE
  • 2017-01 Improving the in silico assessment of pathogenicity for compensated variants in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-01 Study of genetic markers of CODIS and ESS systems in a population of individuals from Cabo Verde living in Lisboa in INTERNATIONAL JOURNAL OF LEGAL MEDICINE
  • 2016-12 Major influence of repetitive elements on disease-associated copy number variants (CNVs) in HUMAN GENOMICS
  • 2016-03 Resolving the ancestry of Austronesian-speaking populations in HUMAN GENETICS
  • 2015-12 Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response in HUMAN GENOMICS
  • 2015-12 Exploring the relationship between lifestyles, diets and genetic adaptations in humans in BMC GENETICS
  • 2015-09 Genetic portrait of Lisboa immigrant population from Cabo Verde with mitochondrial DNA analysis in JOURNAL OF GENETICS
  • 2015-09 Mosaic maternal ancestry in the Great Lakes region of East Africa in HUMAN GENETICS
  • 2015-08 Reply to letter from Felice L. Bedford and Doron Yacobi in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-07 Unpredictable susceptibility of emerging clinical moulds to tri-azoles: review of the literature and upcoming challenges for mould identification in EUROPEAN JOURNAL OF CLINICAL MICROBIOLOGY & INFECTIOUS DISEASES
  • 2015-07 Association between Y haplogroups and autosomal AIMs reveals intra-population substructure in Bolivian populations in INTERNATIONAL JOURNAL OF LEGAL MEDICINE
  • 2015-05 NAMPT and NAPRT1: novel polymorphisms and distribution of variants between normal tissues and tumor samples in SCIENTIFIC REPORTS
  • 2015-05 Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-03 A multiplex PCR assay for identification of the red fox (Vulpes vulpes) using the mitochondrial ribosomal RNA genes in CONSERVATION GENETICS RESOURCES
  • 2015-02 The peopling of Greenland: further insights from the analysis of genetic diversity using autosomal and X-chromosomal markers in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-10 Modifiers of (CAG)n instability in Machado–Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes in HUMAN GENETICS
  • 2014-04 X-Chromosome STR markers data in a Cabo Verde immigrant population of Lisboa in MOLECULAR BIOLOGY REPORTS
  • 2013-03 The genetic landscape of Equatorial Guinea and the origin and migration routes of the Y chromosome haplogroup R-V88 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-12 Diversity and specificity of microsatellites within Aspergillus section Fumigati in BMC MICROBIOLOGY
  • 2012-11 Comparative evaluation of alternative batteries of genetic markers to complement autosomal STRs in kinship investigations: autosomal indels vs. X-chromosome STRs in INTERNATIONAL JOURNAL OF LEGAL MEDICINE
  • 2012-02 Successful COG8 and PDF overlap is mediated by alterations in splicing and polyadenylation signals in HUMAN GENETICS
  • 2012-01 A method for the analysis of 32 X chromosome insertion deletion polymorphisms in a single PCR in INTERNATIONAL JOURNAL OF LEGAL MEDICINE
  • 2012 Capillary Electrophoresis Analysis of a 9-plex STR Assay for Canine Genotyping in DNA ELECTROPHORESIS PROTOCOLS FOR FORENSIC GENETICS
  • 2011-12 Rapid identification of Aspergillus fumigatus within the section Fumigati in BMC MICROBIOLOGY
  • 2011-10 Clustered transcripts that escape X inactivation at mouse XqD in MAMMALIAN GENOME
  • 2011-06 International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation in BREAST CANCER RESEARCH AND TREATMENT
  • 2010-12 Comparative analyses of the Conserved Oligomeric Golgi (COG) complex in vertebrates in BMC EVOLUTIONARY BIOLOGY
  • 2010-12 The human RPS4 paralogue on Yq11.223 encodes a structurally conserved ribosomal protein and is preferentially expressed during spermatogenesis in BMC MOLECULAR BIOLOGY
  • 2010-12 Transcriptional changes in response to X chromosome dosage in the mouse: implications for X inactivation and the molecular basis of Turner Syndrome in BMC GENOMICS
  • 2010-08 Evolutionary History and Functional Diversification of Phosphomannomutase Genes in JOURNAL OF MOLECULAR EVOLUTION
  • 2010-05 Digging deeper into East African human Y chromosome lineages in HUMAN GENETICS
  • 2010-01 Identification of novel L2HGDH gene mutations and update of the pathological spectrum in JOURNAL OF HUMAN GENETICS
  • 2009-12 Epistatic interactions modulate the evolution of mammalian mitochondrial respiratory complex components in BMC GENOMICS
  • 2009-12 Demographic history of Canary Islands male gene-pool: replacement of native lineages by European in BMC EVOLUTIONARY BIOLOGY
  • 2009-11-06 Proteomics Facing the Combinatorial Problem in BIOINFORMATICS METHODS IN CLINICAL RESEARCH
  • 2009-09 Evaluation of DXS9902, DXS7132, DXS6809, DXS7133, and DXS7423 in humans and chimpanzees: sequence variation, repeat structure, and nomenclature in INTERNATIONAL JOURNAL OF LEGAL MEDICINE
  • 2009-06 Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-05 A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian and Latin American populations in INTERNATIONAL JOURNAL OF LEGAL MEDICINE
  • 2009-03 The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal in BREAST CANCER RESEARCH AND TREATMENT
  • 2009-03 X-chromosome STR sequence variation, repeat structure, and nomenclature in humans and chimpanzees in INTERNATIONAL JOURNAL OF LEGAL MEDICINE
  • 2009-01 An INDEL polymorphism at the X-STR GATA172D05 flanking region in INTERNATIONAL JOURNAL OF LEGAL MEDICINE
  • 2008-12 Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2008-11 Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study in INTERNATIONAL JOURNAL OF LEGAL MEDICINE
  • 2008-07 Specificity of mtDNA-directed PCR—influence of NUclear MTDNA insertion (NUMT) contamination in routine samples and techniques in INTERNATIONAL JOURNAL OF LEGAL MEDICINE
  • 2008-07 Genetic profile characterization and segregation analysis of 10 X-STRs in a sample from Santander, Colombia in INTERNATIONAL JOURNAL OF LEGAL MEDICINE
  • 2007-12 Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers in BMC GENOMICS
  • 2007-07 Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique in EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY
  • 2007-05 Genetic analysis of three US population groups using an X-chromosomal STR decaplex in INTERNATIONAL JOURNAL OF LEGAL MEDICINE
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