Costa-de-Oliveira S, Marcos Miranda I, Silva RM, Pinto E Silva A, Rocha R,
Amorim A, Gonçalves Rodrigues A, Pina-Vaz C. FKS2 Mutations Associated with
Decreased Echinocandin Susceptibility of Candida glabrata following Anidulafungin
Therapy. Antimicrob Agents Chemother. 2011 Mar;55(3):1312-4. Epub 2010 Dec 13.
PubMed PMID: 21149621.
Matthiesen R, Azevedo L, Amorim A, Carvalho AS. Discussion on common data
analysis strategies used in MS-based proteomics. Proteomics. 2011
Feb;11(4):604-19. doi: 10.1002/pmic.201000404. Epub 2011 Jan 17. PubMed PMID:
21241018.
Yotova V, Lefebvre JF, Moreau C, Gbeha E, Hovhannesyan K, Bourgeois S,
Bédarida S, Azevedo L, Amorim A, Sarkisian T, Avogbe P, Chabi N, Dicko MH, Santa
Amouzou ES, Sanni A, Roberts-Thomson J, Boettcher B, Scott RJ, Labuda D. An
X-linked haplotype of Neandertal origin is present among all non-African
populations. Mol Biol Evol. 2011 Jan 25. [Epub ahead of print] PubMed PMID:
21266489.
Mendizabal I, Valente C, Gusmão A, Alves C, Gomes V, Goios A, Parson W,
Calafell F, Alvarez L, Amorim A, Gusmão L, Comas D, Prata MJ. Reconstructing the
Indian origin and dispersal of the European Roma: a maternal genetic perspective
PLoS One. 2011 Jan 10;6(1):e15988. PubMed PMID: 21264345; PubMed Central PMCID:
PMC3018485.
Pereira F, Carneiro J, Matthiesen R, van Asch B, Pinto N, Gusmão L, Amorim A. Identification of species by multiplex analysis of variable-length sequences. Nucleic Acids Res. 2010 Dec 1;38(22):e203. Epub 2010 Oct 4. PubMed PMID: 20923781; PubMed Central PMCID: PMC3001097.
Pinto N, Gusmão L, Amorim A. X-chromosome markers in kinship testing: a generalisation of the IBD approach identifying situations where their contribution is crucial. Forensic Sci Int Genet. 2011 Jan;5(1):27-32. Epub 2010 Feb 18. PubMed PMID: 20457080.
Pereira V, Tomas C, Amorim A, Morling N, Gusmão L, Prata MJ. Study of 25 X-chromosome SNPs in the Portuguese. Forensic Sci Int Genet. 2010 Oct 29. [Epub ahead of print] PubMed PMID: 21036684.
Pereira V, Gomes V, Amorim A, Gusmão L, João Prata M. Genetic characterization of uniparental lineages in populations from Southwest Iberia with past malaria endemicity. Am J Hum Biol. 2010 Sep-Oct;22(5):588-95. PubMed PMID: 20737604.
Araujo R, Amorim A, Gusmão L. Genetic diversity of Aspergillus fumigatus in indoor hospital environments. Med Mycol. 2010 Sep;48(6):832-8. PubMed PMID: 20136576.
Suarez-Kurtz G, Amorim A, Damasceno A, Hutz MH, de Moraes MO, Ojopi EB, Pena SD, Perini JA, Prata MJ, Ribeiro-dos-Santos A, Romano-Silva MA, Teixeira D, Struchiner CJ. VKORC1 polymorphisms in Brazilians: comparison with the Portuguese and Portuguese-speaking Africans and pharmacogenetic implications. Pharmacogenomics. 2010 Sep;11(9):1257-67. PubMed PMID: 20860466.
Quental R, Moleirinho A, Azevedo L, Amorim A. Evolutionary history and functional diversification of phosphomannomutase genes. J Mol Evol. 2010 Aug;71(2):119-27. Epub 2010 Jul 27. PubMed PMID: 20661555.
Quental S, Vilarinho L, Martins E, Teles EL, Rodrigues E, Diogo L, Garcia P, Eusébio F, Gaspar A, Sequeira S, Amorim A, Prata MJ. Incidence of maple syrup urine disease in Portugal. Mol Genet Metab. 2010 Aug;100(4):385-7. Epub 2010 Apr 22. PubMed PMID: 20466570.
Peixoto A, Santos C, Pinheiro M, Pinto P, Soares MJ, Rocha P, Gusmão L, Amorim A, van der Hout A, Gerdes AM, Thomassen M, Kruse TA, Cruger D, Sunde L, Bignon YJ, Uhrhammer N, Cornil L, Rouleau E, Lidereau R, Yannoukakos D, Pertesi M, Narod S, Royer R, Costa MM, Lazaro C, Feliubadaló L, Graña B, Blanco I, de la Hoya M, Caldés T, Maillet P, Benais-Pont G, Pardo B, Laitman Y, Friedman E, Velasco EA, Durán M, Miramar MD, Valle AR, Calvo MT, Vega A, Blanco A, Diez O, Gutiérrez-Enríquez S, Balmaña J, Ramon Y Cajal T, Alonso C, Baiget M, Foulkes W, Tischkowitz M, Kyle R, Sabbaghian N, Ashton-Prolla P, Ewald IP, Rajkumar T, Mota-Vieira L, Giannini G, Gulino A, Achatz MI, Carraro DM, de Paillerets BB, Remenieras A, Benson C, Casadei S, King MC, Teugels E, Teixeira MR. International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation. Breast Cancer Res Treat. 2010 Jul 22. [Epub ahead of print] PubMed PMID: 20652400.
Quental R, Azevedo L, Matthiesen R, Amorim A. Comparative analyses of the Conserved Oligomeric Golgi (COG) complex in vertebrates. BMC Evol Biol. 2010 Jul 15;10:212. PubMed PMID: 20633274; PubMed Central PMCID: PMC2927914.
Gomes V, Alves C, Amorim A, Carracedo A, Sánchez-Diz P, Gusmão L. Nilotes from Karamoja, Uganda: haplotype data defined by 17 Y-chromosome STRs. Forensic Sci Int Genet. 2010 Jul;4(4):e83-6. Epub 2009 Aug 3. PubMed PMID: 20457037.
Machado P, Pereira R, Rocha AM, Manco L, Fernandes N, Miranda J, Ribeiro L, do Rosário VE, Amorim A, Gusmão L, Arez AP. Malaria: looking for selection signatures in the human PKLR gene region. Br J Haematol. 2010 Jun;149(5):775-84. Epub 2010 Apr 4. PubMed PMID: 20377593.
Lopes AM, Miguel RN, Sargent CA, Ellis PJ, Amorim A, Affara NA. The human RPS4 paralogue on Yq11.223 encodes a structurally conserved ribosomal protein and is preferentially expressed during spermatogenesis. BMC Mol Biol. 2010 May 7;11:33. PubMed PMID: 20459660; PubMed Central PMCID: PMC2884166.
Amorim A. A comment on "The hare and the tortoise: One small step for four SNPs, one giant leap for SNP-kind". Forensic Sci Int Genet. 2010 May 7. [Epub ahead of print] PubMed PMID: 20452848.
Gusmão A, Valente C, Gomes V, Alves C, Amorim A, Prata MJ, Gusmão L. A genetic historical sketch of European Gypsies: The perspective from autosomal markers. Am J Phys Anthropol. 2010 Apr;141(4):507-14. PubMed PMID: 19918999.
Pinto N, Gusmão L, Amorim A. Likelihood ratios in kinship analysis: contrasting kinship classes, not genealogies. Forensic Sci Int Genet. 2010 Apr;4(3):218-9. Epub 2009 Jul 30. PubMed PMID: 20215036.
Rodríguez-Suárez E, Gubb E, Alzueta IF, Falcón-Pérez JM, Amorim A, Elortza F, Matthiesen R. Virtual expert mass spectrometrist: iTRAQ tool for database-dependent search, quantitation and result storage. Proteomics. 2010 Apr;10(8):1545-56. PubMed PMID: 20140907.
Silva F, Pereira R, Gusmão L, Santos C, Amorim A, Prata MJ, Bettencourt C, Lourenço P, Lima M. Genetic profiling of the Azores Islands (Portugal): data from 10 X-chromosome STRs. Am J Hum Biol. 2010 Mar-Apr;22(2):221-3. PubMed PMID: 19593741.
Nogueiro I, Manco L, Gomes V, Amorim A, Gusmão L. Phylogeographic analysis of paternal lineages in NE Portuguese Jewish communities. Am J Phys Anthropol. 2010 Mar;141(3):373-81. PubMed PMID: 19918998.
Gomes V, Sánchez-Diz P, Amorim A, Carracedo A, Gusmão L. Digging deeper into East African human Y chromosome lineages. Hum Genet. 2010 Mar;127(5):603-13. Epub 2010 Mar 6. PubMed PMID: 20213473.
Lopes AM, Burgoyne PS, Ojarikre A, Bauer J, Sargent CA, Amorim A, Affara NA. Transcriptional changes in response to X chromosome dosage in the mouse: implications for X inactivation and the molecular basis of Turner Syndrome. BMC Genomics. 2010 Feb 1;11:82. PubMed PMID: 20122165; PubMed Central PMCID: PMC2837040.
Santos NP, Ribeiro-Rodrigues EM, Ribeiro-Dos-Santos AK, Pereira R, Gusmão L, Amorim A, Guerreiro JF, Zago MA, Matte C, Hutz MH, Santos SE. Assessing individual interethnic admixture and population substructure using a 48-insertion-deletion (INSEL) ancestry-informative marker (AIM) panel. Hum Mutat. 2010 Feb;31(2):184-90. PubMed PMID: 19953531.
Alves J, Machado P, Silva J, Gonçalves N, Ribeiro L, Faustino P, do Rosário VE, Manco L, Gusmão L, Amorim A, Arez AP. Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of European and sub Saharan settlers. Blood Cells Mol Dis. 2010 Jan 15;44(1):62-8. Epub 2009 Oct 17. PubMed PMID: 19837619.
van Asch B, Pinheiro R, Pereira R, Alves C, Pereira V, Pereira F, Gusmão L, Amorim A. A framework for the development of STR genotyping in domestic animal species: characterization and population study of 12 canine X-chromosome loci. Electrophoresis. 2010 Jan;31(2):303-8. PubMed PMID: 20024924.
Pinto N, Silva PV, Amorim A. General derivation of the sets of pedigrees with the same kinship coefficients. Hum Hered. 2010;70(3):194-204. Epub 2010 Aug 19. PubMed PMID: 20720433.
Vilarinho L, Tafulo S, Sibilio M, Kok F, Fontana F, Diogo L, Venâncio M, Ferreira M, Nogueira C, Valongo C, Parenti G, Amorim A, Azevedo L. Identification of novel L2HGDH gene mutations and update of the pathological spectrum. J Hum Genet. 2010 Jan;55(1):55-8. Epub 2009 Nov 13. PubMed PMID: 19911013.
Matthiesen R, Amorim A. Proteomics facing the combinatorial problem. Methods Mol Biol. 2010;593:175-86. PubMed PMID: 19957150.
GOMES I, AMORIM A, PEREIRA V, CARRACEDO A, GUSMÃO L (2009) Genetic patterns of 10 X chromosome short tandem repeats in an Asian population from Macau. Forensic Science International: Genetics Supplement Series. 2:402-404.
VALENTE V, GOMES I, PEREIRA V, AMORIM A, GUSMÃO L, PRATA MJ (2009) Association between STRs from the X chromosome in a sample of Portuguese Gypsies. Forensic Science International: Genetics Supplement Series. 2:391-393.
RAMOS EM, MARTINS S, ALONSO I, EMMEL VE, SARAIVA-PEREIRA ML, JARDIM LB, COUTINHO P, SEQUEIROS J, SILVEIRA I. (2009) Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2). Am J Med Genet B Neuropsychiatr Genet (in press).
SILVA F, PEREIRA R, GUSMÃO L, SANTOS C, AMORIM A, PRATA MJ, BETTENCOURT C, LOURENÇO P, LIMA M (2009) Genetic profiling of the Azores Islands (Portugal): Data from 10 X-chromosome STRs. Am J Hum Biol. 2009 Jul 10. [Epub ahead of print]
PEREIRA F, QUEIRÓS S, GUSMÃO L, NIJMAN IJ, CUPPEN E, LENSTRA JA, THE ECONOGENE CONSORTIUM, DAVIS SJM, NEJMEDDINE F, AMORIM A. (2009) Tracing the history of goat pastoralism: new clues from mitochondrial and Y chromosome DNA in North Africa. Molecular Biology and Evolution. 26:2765-73.
VAN ASCH B, ALBARRAN C, ALONSO A, ANGULO R, ALVES C, BETANCOR E, CATANESI CI, CORACH D, CRESPILLO M, DOUTREMEPUICH C, ESTONBA A, FERNANDES AT, FERNANDEZ E, GARCIA AM, GARCIA MA, GILARDI P, GONÇALVES R, HERNÁNDEZ A, LIMA G, NASCIMENTO E, PANCORBO MM, PARRA D, PINHEIRO MF, PRAT E,PUENTE J, RAMÍREZ JL, RENDO F, REY I, DI ROCCO F, RODRÍGUEZ A, SALAR A, SALLA J, SANCHEZ JJ, SOLÁ D, SILVA S, PESTANO BRITO JJ AND ANTÓNIO AMORIM A (2009) Forensic analysis of dog (Canis lupus familiaris) mitochondrial DNA sequences: An inter-laboratory study of the GEP-ISFG working group. Forensic Science International Genetics 4(1):49-54.
GOMES I, PEREIRA R, MAYR WR, AMORIM A, CARRACEDO A, GUSMÃO L. (2009) Evaluation of DXS9902, DXS7132, DXS6809, DXS7133, and DXS7423 in humans and chimpanzees: sequence variation, repeat structure, and nomenclature. Int J Legal Med. 123: 403 - 412
MATTHIESEN R, KIRPEKAR F. (2009) Identification of RNA molecules by specific enzyme digestion and mass spectrometry: software for and implementation of RNA mass mapping. Nucleic Acids Res. 37(6):e48.
HACKENBERG M, LASSO G, MATTHIESEN R. (2009) ContDist: a tool for the analysis of quantitative gene and promoter properties. BMC Bioinformatics 7,10:7.
GOMES V, ALVES C, AMORIM A, CARRACEDO A, SÁNCHEZ-DIZ P, GUSMÃO L. (2009) Nilotes from Karamoja, Uganda: Haplotype data defined by 17 Y-chromosome STRs. Forensic Science International: Genetics 3: e127-e128.
FREGEL R, GOMES V, GUSMÃO L, GONZÁLEZ AM, CABRERA VM, AMORIM A, LARRUGA J (2009) Demographic history of Canary Islands male gene-pool: replacement of native lineages by European. BMC Evol Biol. 9:181.
CHERNI L, FERNANDES V, PEREIRA JB, COSTA MD, GOIOS A, FRIGI S,
YACOUBI-LOUESLATI B, AMOR MB, SLAMA A, AMORIM A, EL GAAIED AB, PEREIRA L. (2009) Post-last glacial maximum expansion from Iberia to North Africa revealed by fine
characterization of mtDNA H haplogroup in Tunisia. Am J Phys Anthropol. 139(2):253-60.
RIBEIRO-RODRIGUES EM, DOS SANTOS NP, DOS SANTOS AK, PEREIRA R, AMORIM A, GUSMÃO L, ZAGO MA, DOS SANTOS SE. (2009) Assessing interethnic admixture using an X-linked insertion-deletion multiplex. Am J Hum Biol. 21(5):707-9.
QUENTAL S, GUSMÃO A, RODRÍGUEZ-POMBO P, UGARTE M, VILARINHO L, AMORIM A, PRATA MJ (2009) Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene. Ann Hum Genet. 73(Pt3):298-303.
GOMES I, PEREIRA V, GOMES V, PRATA MJ, PINTO N, CARRACEDO A, AMORIM A, GUSMÃO L. (2009) The Karimojong from Uganda: genetic characterization using an X-STR decaplex system. Forensic Sci Int Genet. e127-8.
QUENTAL R, AZEVEDO L, DIOGO L, RUBIO V, AMORIM A (2009) Molecular mechanisms underlying large genomic deletions in Ornithine Transcarbamylase (OTC) gene. Clinical Genetics. 75(5):457-64.
AZEVEDO L, CARNEIRO J, VAN ASCH B, MOLEIRINHO A, PEREIRA F, AMORIM A (2009) Epistatic interactions modulate the evolution of mammalian mitochondrial respiratory complex components. BMC Genomics 10:266.
CHESSA B, PEREIRA F, ARNAUD F, AMORIM A, GOYACHE F, MAINLAND I, KAO RR, PEMBERTON JM, BERALDI D, STEAR M, ALBERTI A, PITTAU M, IANNUZZI L, BANABAZI MH, KAZWALA R, ZHANG Y-P, ARRANZ JJ, ALI BA, WANG Z, UZUN M, DIONE M, OLSAKER I, HOLM L-E, SAARMA U, AHMAD S, MARZANOV N, EYTHORSDOTTIR E, HOLLAND MJ, AJMONE-MARSAN P, BRUFORD MW, KANTANEN J, SPENCER TE AND PALMARINI M (2009) Revealing the history of sheep domestication using retrovirus integrations. Science. 324:532-536.
SILVA RM, DUARTE ICN, PAREDES JA, LIMA-COSTA T, PERROT M, et al. (2009) The Yeast PNC1 Longevity Gene Is Up-Regulated by mRNA Mistranslation. PLoS ONE 4(4): e5212. doi:10.1371/journal.pone.0005212
ALMEIDA T, ALONSO I, MARTINS S, RAMOS EM, AZEVEDO L, OHNO K, AMORIM A, SARAIVA-PEREIRA ML, JARDIM LB, MATSUURA T, SEQUEIROS J, SILVEIRA I (2009) Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). PLoS ONE 4(2):e4553.
ARAUJO R, PINA-VAZ C, RODRIGUES AG, AMORIM A, GUSMÃO L (2009) Simple and highly discriminatory microsatellite-based multiplex PCR for Aspergillus fumigatus strain typing. Clin Microbiol Infect. 15(3):260-6.
BERTAGNOLLI AC, SOARES P, VAN ASCH B, AMORIM A, CIRNES L, MÁXIMO V, CASSALI GD (2009) An assessment of the clonality of the components of canine mixed mammary tumours by mitochondrial DNA analysis. Vet J. 2008 Aug 25. [Epub ahead of print]
LÓPEZ-PARRA AM, GUSMÃO L, TAVARES L, BAEZA C, AMORIM A, MESA MS, PRATA MJ, ARROYO-PARDO E (2009) In search of the Pre- and Post-Neolithic Genetic Substrates in Iberia: Evidence from Y-Chromosome in Pyrenean Populations. Ann Hum Genet. 73:42-53
VAN ASCH B, ALVES C, GUSMÃO L, PEREIRA V, PEREIRA F, AMORIM A (2009) A new autosomal STR nineplex for canine identification and parentage testing. Electrophoresis. 30:417-423.
CAPELLI C, ONOFRI V, BRISIGHELLI F, BOSCHI I, SCARNICCI F, MASULLO M, FERRI G, TOFANELLI S, TAGLIABRACCI A, GUSMAO L, AMORIM A, GATTO F, KIRIN M, MERLITTI D, BRION M, VEREA AB, ROMANO V, CALI F, PASCALI V. (2009) Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe. Eur J Hum Genet. 17(6):848-52.
PEIXOTO A, SANTOS C, ROCHA P, PINHEIRO M, PRÍNCIPE S, PEREIRA D, RODRIGUES H, CASTRO F, ABREU J, GUSMÃO L, AMORIM A, TEIXEIRA MR (2009) The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal. Breast Cancer Res Treat. 114:31-8.
GOMES V, SÁNCHEZ-DIZ P, ALVES C, GOMES I, AMORIM A, CARRACEDO A, GUSMÃO L. (2009) Population data defined by 15 autosomal STR loci in Karamoja population (Uganda) using AmpF/STR Identifiler kit. Forensic Sci Int Genet. 3:e55-8.
GOMES I, PRINZ M, PEREIRA R, BIESCHKE E, MAYR WR, AMORIM A, CARRACEDO A,
GUSMÃO L. (2009) X-chromosome STR sequence variation, repeat structure, and nomenclature in humans
and chimpanzees. Int J Legal Med. 123:143-9.
MANCO L, MACHADO P, LOPES D, NOGUEIRA F, DO ROSÁRIO VE, ALONSO PL, VARANDAS L,TROVOADA MDE J, AMORIM A, AREZ AP. (2009) Analysis of TPI gene promoter variation in three sub-Saharan Africa population
samples. Am J Hum Biol. 21(1):118-20.
RODRIGUES EM, DOS SANTOS NP, DOS SANTOS AK, MARINHO AN, ZAGO MA, GOMES I,AMORIM A, GUSMÃO L, DOS SANTOS SE. (2009) An INDEL polymorphism at the X-STR GATA172D05 flanking region. Int J Legal Med. 123(1):89-94.
GUSMÃO L, SÁNCHEZ-DIZ P, ALVES C, GOMES I, ZARRABEITIA MT, ABOVICH M, ATMETLLA I, BOBILLO C, BRAVO L, BUILES J, CAINÉ L, CALVO R, CARVALHO E, CARVALHO M, CICARELLI R, CATELLI L, CORACH D, ESPINOZA M, GARCÍA O, MALAGHINI M, MARTINS J, PINHEIRO F, JOÃO PORTO M, RAIMONDI E, RIANCHO JA, RODRÍGUEZ A, RODRÍGUEZ A, RODRÍGUEZ CARDOZO B, SCHNEIDER V, SILVA S, TAVARES C, TOSCANINI U, VULLO C, WHITTLE M, YURREBASO I, CARRACEDO A, AMORIM A (2009) A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian and Latin American populations. Int J Legal Med. 123(3):227-34.
GLABOURIAU R, AMORIM A. (2008) Comment on "An association between the kinship and fertility of human couples". Science. 12;322(5908):1634
AMORIM A. (2008) A cautionary note on the evaluation of genetic evidence from uniparentally
transmitted markers. Forensic Sci Int Genet. 2(4):376-8.
MARTINS S, COUTINHO P, SILVEIRA I, GIUNTI P, JARDIM LB, CALAFELL F, SEQUEIROS J, AMORIM A (2008) Cis-factors promoting the CAG intergenerational instability in Machado-Joseph disease. Am J Med Genet 147B:439-46.
TOSCANINI U, GUSMÃO L, BERARDI G, AMORIM A, CARRACEDO A, SALAS A, RAIMONDI E. (2008) Y chromosome microsatellite genetic variation in two Native American populations
from Argentina: population stratification and mutation data. Forensic Sci Int Genet. 2(4):274-80.
GOIOS, A., GUSMÃO, L., ROCHA, A. M., FONSECA, A., PEREIRA, L., BOGUE, M., AMORIM, A. (2008) Identification of mouse inbred strains through mitochondrial DNA single-nucleotide extension. Electrophoresis. 29:4795-802.
PEREIRA F, SOARES P, CARNEIRO J, PEREIRA L, RICHARDS M, SAMUELS DC, AMORIM A. (2008) Evidence for variable selective pressures at a large secondary structure of the human mitochondrial DNA control region. Molecular Biology and Evolution. 25: 2759–2770
PEREIRA F, CARNEIRO J, SOARES P, MACIEL S, NEJMEDDINE F, LENSTRA JA, GUSMÃO L, AMORIM A. (2008) A multiplex primer extension assay for the rapid identification of paternal lineages in domestic goat (Capra hircus): laying the foundations for a detailed caprine Y chromosome phylogeny. Molecular Phylogenetics and Evolution. 49:663-668
BEHAR DM, METSPALU E, KIVISILD T, ROSSET S, TZUR S, HADID Y, YUDKOVSKY G, ROSENGARTEN D, PEREIRA L, AMORIM A, KUTUEV I, GURWITZ D, BONNE-TAMIR B, VILLEMS R, SKORECKI K (2008) Counting the founders: the matrilineal genetic ancestry of the Jewish Diaspora. PLoS ONE 3(4): e2062.
SÁNCHEZ-DIZ P, ALVES C, CARVALHO E, CARVALHO M, ESPINHEIRA R, GARCÍA O, PINHEIRO MF, PONTES L, PORTO MJ, SANTAPA O, SILVA C, SUMITA D, VALENTE S, WHITTLE M, YURREBASO I, CARRACEDO A, AMORIM A, GUSMÃO L; GEP-ISFG (The Spanish and Portuguese Working Group of the International Society for Forensic Genetics) (2008) Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study. Int J Legal Med. 122(6):529-33.
LABOURIAU R, AMORIM A (2008) Human fertility increases with marital radius. Genetics 178: 601-603.
GUSMÃO A, GUSMÃO L, GOMES V, ALVES C, CALAFELL F, AMORIM A, PRATA MJ (2008) A Perspective on the History of the Iberian Gypsies Provided by Phylogeographic Analysis of Y-Chromosome Lineages. Ann Hum Genet. 72: 215-27.
COELHO M, ALVES C, COIA V, LUISELLI D, USELI A, HAGEMEIJER T, AMORIM A, DESTRO-BISOL G, ROCHA J (2008) Human Microevolution and the Atlantic Slave Trade: A Case Study from São Tomé. Current Anthropology 49: 134-143.
PICO A, CASTILLO A, VARGAS C, AMORIM A, GUSMÃO L (2008) Genetic profile characterization and segregation analysis of 10 X-STRs in a sample from Santander, Colombia. Int J Legal Med. 122(4):347-51
PEREIRA F, CARNEIRO J, AMORIM A (2008) Identification of species with DNA-based technology: current progress and challenges.
Recent Patents on DNA & Gene Sequences. 2:187-200.
QUENTAL S, MACEDO-RIBEIRO S, MATOS R, VILARINHO L, MARTINS E, TELES EL, RODRIGUES E, DIOGO L, GARCIA P, EUSÉBIO F, GASPAR A, SEQUEIRA S, FURTADO F, LANÇA I, AMORIM A, PRATA MJ (2008) Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community. Mol Genet Metab. 2008. 94:148-56.
QUENTAL S, MARTINS E, VILARINHO L, AMORIM A, JOÃO PRATA M (2008) Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination. J Inherit Metab Dis. Online Report #139.
KHODJET-EL-KHIL H, FADHLAOUI-ZID K, GUSMÃO L, ALVES C, BENAMMAR-ELGAAIED A, AMORIM A (2008) Substructure of a Tunisian Berber Population as Inferred from 15 Autosomal Short Tandem Repeat Loci. Hum Biol 80: 435–448
NAVARRO-COSTA P, PEREIRA L, ALVES C, GUSMAO L, PROENÇA C, MARQUES-VIDAL P, ROCHA T, CORREIA SC, JORGE S, NEVES A, SOARES AP, NUNES J, CALHAZ-JORGE C, AMORIM A, PLANCHA CE, GONCALVES J (2007) Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers. BMC Genomics. 8(1):342.
TROVOADA MJ, TAVARES L, GUSMÃO L, ALVES C, ABADE A, AMORIM A, PRATA MJ (2007) Dissecting the genetic history of São Tomé e Príncipe: a new window from Y-chromosome biallelic markers. Ann Hum Genet 71:77-85.
SURIANO G, AZEVEDO L, NOVAIS M, BOSCOLO B, SERUCA R, AMORIM A, GHIBAUDI EM. (2007)
In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model.
Hum Mol Genet. Sep 15;16(18):2209-14.
ARNAUD F, CAPORALE M, VARELA M, BIEK R, CHESSA B, ALBERTI A, GOLDER M, MURA M, ZHANG Y, YU L, PEREIRA F, DEMARTINI J, LEYMASTER K, SPENCER T, PALMARINI M. (2007) A Paradigm for Virus-Host Coevolution: Sequential Counter-Adaptations Between Endogenous and Exogenous Retroviruses. PLoS Pathogens. 3:e170.
GOIOS, A., PRIETO, L., AMORIM, A., PEREIRA, L. (2007) Specificity of mtDNA-directed PCR-influence of NUclear MTDNA insertion (NUMT) contamination in routine samples and techniques. Int J Legal Med. 122:341-5.
ALER M, SANCHEZ-DIZ P, GOMES I, GISBERT M, CARRACEDO A, AMORIM A, GUSMAO L (2007) Genetic data of 10 X-STRs in a Spanish population sample. Forensic Sci Int. Dec 20;173(2-3):193-6
ALVES C, GOMES V, PRATA MJ, AMORIM A, GUSMAO L (2007) Population data for Y-chromosome haplotypes defined by 17 STRs (AmpFlSTR YFiler) in Portugal. Forensic Sci Int. 171: 250-255
OLIVEIRA E, QUENTAL S, ALVES S, AMORIM A, PRATA MJ (2007) Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique. Eur J Clin Pharmacol. 63(7):703-6
OLIVEIRA E, MARSH S, VAN BOOVEN DJ, VAN BOOVEN DJ, AMORIM A, PRATA MJ, MCLEOD HL (2007) Pharmacogenetically relevant polymorphisms in Portugal Pharmacogenomics 8 (7): 703-712
OUERHANI S, OLIVEIRA E, MARRAKCHI R, BEN SLAMA MR, SFAXI M, AYED M, CHEBIL M, AMORIM A, EL GAAIED AB, PRATA MJ. (2007) Methylenetetrahydrofolate reductase and methionine synthase polymorphisms and risk of bladder cancer in a Tunisian population. Cancer Genet Cytogenet. 176(1): 48-53
DOMINGUES PM, GUSMAO L, DA SILVA DA, AMORIM A, PEREIRA RW, DE CARVALHO EF (2007) Sub-Saharan Africa descendents in Rio de Janeiro (Brazil): population and mutational data for 12 Y-STR loci. Int J Legal Med. 121: 198 - 203
GOMES I, PRINZ M, PEREIRA R, MEYERS C, MIKULASOVICH RS, AMORIM A, CARRACEDO A, GUSMAO L.
(2007) Genetic analysis of 3 US population groups using an X-chromosmal STR decaplex.
Int J. Legal Med. 121: 198 – 203.
PEREIRA R, GOMES I, AMORIM A, GUSMÃO L.
(2007) Genetic diversity of 10 X- chromosome STRs in northern Portugal.
Int J Legal Med. 121: 192 - 197.
GOMES I, ALVES C, MAXZUD K, PEREIRA R, PRATA MJ, SÁNCHEZ-DIZ P, CARRACEDO A, AMORIM A, GUSMÃO L.
(2007) Analysis of 10 X-STRs in three African populations.
Forensic Sci Int: Genetics 1 208-211
GOIOS, A., PEREIRA, L., BOGUE, M., MACAULAY, V., AMORIM, A. (2007) MtDNA
phylogeny and evolution of laboratory mouse strains.
Genome Research 17: 293-298
BUILES JJ, MARTINEZ B, GOMEZ A, CARABALLO L, ESPINAL C, AGUIRRE D, MONTOYA A, MORENO M, AMORIM A, GUSMAO L, BRAVO ML (2007) Y chromosome STR haplotypes in the Caribbean city of Cartagena (Colombia). Forensic Sci Int. 167: 62-69.
MARTINS S, CALAFELL F, GASPAR C, WONG VCN, SILVEIRA I, NICHOLSON GA, BRUNT E, TRANEBJAERG L, STEVANIN G, HSIEH M, SOONG B-W, LOUREIRO L, DÜRR A, TSUJI S, WATANABE M, JARDIM L, GIUNTI P, RIESS O, SASAKI H, RANUM LPW, BRICE A, ROULEAU GA, COUTINHO P, AMORIM A, SEQUEIROS J. (2007) The worldwide spread mutational event in Machado-Joseph disease has an Asian origin. Arch Neurol.; 64:1502-8.
QUELHAS D, QUENTAL R, VILARINHO L, AMORIM A, AZEVEDO L. (2007) Congenital Disorder of Glycosylation type Ia: searching the origins of common mutations in PMM2. Annals of Human Genetics. Ann Hum Genet 71: 348-53.
TOSCANINI U, GUSMAO L, BERARDI G, AMORIM A, CARRACEDO A, SALAS A, RAIMONDI E (2007) Testing for genetic structure in different urban Argentinian populations. Forensic Sci Int. 165(1):35-40.
GOIOS A, MEIRINHOS J, ROCHA R, LOPES R, AMORIM A, PEREIRA L.
(2006) RepeatAround: a software tool for finding and visualizing repeats in circular genomes and its application to a human mtDNA database.
Mitochondrion 6: 218-224.
MARTINS S, CALAFELL F, WONG VC, SEQUEIROS J, AMORIM A (2006) A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus. Eur J Hum Genet. 2006 May 17; Eur J Hum Genet 2006 14:932-40.
ALONSO A, ALBARRAN C, MARTÍN P, GARCÍA P, CAPILLA J, GARCÍA O, DE LA RUA C, IZAGUIRRE N, PEREIRA F, PEREIRA L, AMORIM A, SANCHO M. (2006) Usefulness of microchip electrophoresis for the analysis of mitochondrial DNA in Forensic and Ancient DNA studies. Electrophoresis Dec;27(24):5101-9
LOUESLATI BY, CHERNI L, KHODJET-ELKHIL H, ENNAFAA H, PEREIRA L, AMORIM A, BEN AYED F, BEN AMMAR ELGAAIED A (2006) Islands inside an island: reproductive isolates on Jerba island. Am J Hum Biol 18:149-53
SOUTO L, GUSMÃO L, FERREIRA E, AMORIM A, CÔRTE-REAL F, VIEIRA DN (2006) Y-chromosome STR haplotypes in East Timor: Forensic evaluation and population data. Forensic Sci Int 156: 261-265
BEHAR DM, METSPALU E, KIVISILD T, ACHILLI A, HADID Y, TZUR S, PEREIRA L, AMORIM A, QUINTANA-MURCI L, MAJAMAA K, HERRNSTADT C, HOWELL N, BALANOVSKY O, KUTUEV I, PSHENICHNOV A, GURWITZ D, BONNE-TAMIR B, TORRONI A, VILLEMS R, SKORECKI K (2006) The Matrilineal Ancestry of Ashkenazi Jewry: Portrait of a Recent Founder Event. Am J Hum Genet 78: 487-497
BELEZA S, GUSMAO L, LOPES A, ALVES C, GOMES I, GIOUZELI M, CALAFELL F, CARRACEDO A, AMORIM A (2006) Micro-phylogeographic and demographic history of Portuguese male lineages. Ann Hum Genet 70: 181-94
PEREIRA F, DAVIS SJ, PEREIRA L, MCEVOY B, BRADLEY DG, AMORIM A (2006) Genetic Signatures of a Mediterranean Influence in Iberian Peninsula Sheep Husbandry. Mol Biol Evol. 23(7):1420-1426.
MARTINS E, SILVA-CARDOSO J, ALVES C, PEREIRA H, SOARES B, DAMASCENO A, ABREU-LIMA C, AMORIM A, ROCHA-GONCALVES F (2006) Familial dilated cardiomyopathy with troponin T K210del mutation. Rev Port Cardiol 25(3): 295-300
LOPES AM, ROSS N, CLOSE J, DAGNALL A, AMORIM A, CROW TJ (2006) Inactivation status of PCDH11X: sexual dimorphisms in gene expression levels in brain. Hum Genet. 119(3):267-75
MARTINEZ B, CARABALLO L, BARON F, GUSMAO L, AMORIM A, CARRACEDO A (2006) Analysis of STR loci in Cartagena, a Caribbean city of Colombia. Forensic Sci Int. 160:221-223
BUILES JJ, BRAVO ML, GOMEZ C, ESPINAL C, AGUIRRE D, GOMEZ A, RODRIGUEZ J, CASTANEDA P, MONTOYA A, MORENO M, AMORIM A, GUSMAO L (2006) Y-chromosome STRs in an Antioquian (Colombia) population sample. Forensic Sci Int. Dec 1;164(1):79-86
PEREIRA L, RICHARDS M, GOIOS A, ALONSO A, ALBARRAN C, GARCIA O, BEHAR DM, GOLGE M, HATINA J, AL-GAZALI L, BRADLEY DG, MACAULAY V, AMORIM A (2006) Evaluating the forensic informativeness of mtDNA haplogroup H sub-typing on a Eurasian scale. Forensic Sci Int 159: 43-50
FRIGI S, PEREIRA F, PEREIRA L, YACOUBI B, GUSMAO L, ALVES C, KHIL HK, CHERNI L, AMORIM A, GAAIED AE (2005) Data for Y-chromosome haplotypes defined by 17 STRs (AmpFLSTR((R)) Yfilertrade mark) in two Tunisian Berber communities. Forensic Sci Int 160 (1): 80-83
CRESPILLO M, PAREDES MR, PRIETO L, MONTESINO M, SALAS A, ALBARRAN C, V AI, AMORIM A, BERNIELL-LEE G, BREHM A, CARRIL JC, CORACH D, CUEVAS N, DI LONARDO AM, DOUTREMEPUICH C, ESPINHEIRA RM, ESPINOZA M, GOMEZ F, GONZALEZ A, HERNANDEZ A, HIDALGO M, JIMENEZ M, LEITE FP, LOPEZ AM, LOPEZ-SOTO M, LORENTE JA, PAGANO S, PALACIO AM, PESTANO JJ, PINHEIRO MF, RAIMONDI E, RAMON MM, TOVAR F, VIDAL-RIOJA L, VIDE MC, WHITTLE MR, YUNIS JJ, GARCIA-HIRSCHFEL J (2005) Results of the 2003-2004 GEP-ISFG collaborative study on mitochondrial DNA: Focus on the mtDNA profile of a mixed semen-saliva stain. Forensic Sci Int. 160: 157-167
GOIOS A, MEIRINHOS J, ROCHA R, LOPES R, AMORIM A, PEREIRA L. (2006) RepeatAround: A software tool for finding and visualizing repeats in circular genomes and its application to a human mtDNA database. Mitochondrion. 2006 Jun 14; [Epub ahead of print]
CHERNI L, LOUESLATI YAACOUBI B, PEREIRA L, ALVES C, KHODJET EL KILL H, BEN AMMAR EL GAAIED A, AMORIM A (2005) Data for 15 autosomal STR markers (Powerplex 16 System) from two Tunisian populations: Kesra (Berber) and Zriba (Arab). Forensic Sci Int 147(1):101-6
ALONSO A, ALVES C, SUAREZ-MIER MP, ALBARRAN C, PEREIRA L, FERNANDEZ DE SIMON L, MARTIN P, GARCIA O, GUSMAO L, SANCHO M, AMORIM A (2005) Mitochondrial DNA haplotyping revealed the presence of mixed up benign and neoplastic tissue sections from two individuals on the same prostatic biopsy slide. J Clin Pathol 58(1): 83-6
PEREIRA L, RICHARDS M, GOIOS A, ALONSO A, ALBARRAN C, GARCIA O, BEHAR DM, GOLGE M, HATINA J, AL-GAZALI L, BRADLEY DG, MACAULAY V, AMORIM A (2005) High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium. Genome Res. 15: 19-24
ALVES C, GUSMAO L, LOPEZ-PARRA AM, MESA MS, AMORIM A, ARROYO-PARDO E (2005) STR allelic frequencies for an African population sample (Equatorial Guinea) using AmpFlSTR Identifiler and Powerplex 16 kits. Forensic Sci Int. 148:239-42
DE SOUZA GOES AC, DE CARVALHO EF, GOMES I, DA SILVA DA, GIL EH, AMORIM A, GUSMAO L (2005) Population and mutation analysis of 17 Y-STR loci from Rio de Janeiro (Brazil). Int J Legal Med. 119(2):70-6
DIEDERICHE M, MARTIN P, AMORIM A, CORTE-REAL F, GUSMAO L (2005) A case of double alleles at three Y-STR loci: forensic implications. Int J Legal Med. 119(4):223-5
ARROYO-PARDO E, GUSMAO L, LOPEZ-PARRA AM, BAEZA C, MESA MS, AMORIM A (2005) Genetic variability of 16 Y-chromosome STRs in a sample from Equatorial Guinea (Central Africa). Forensic Sci Int. 149:109-13
AMORIM A, PEREIRA L (2005) Pros and cons in the use of SNPs in forensic kinship investigation: a comparative analysis with STRs. Forensic Sci Int. 150:17-21
MARTÍNEZ B, CARABALLO L, GUSMÃO L, AMORIM A, CARRACEDO A (2005) Autosomic STR population data in two Caribbean samples from Colombia. Forensic Sci Int. 152: 79-81
CHERNI L, PEREIRA L, GOIOS A, YACOUBI LOUESLATI B, KHODJET EL KHIL H, GOMES I, GUSMÃO L, ALVES C, SLAMA A, AMORIM A, BENAMMAR ELGAAIED A (2005) Y-chromosomal STR haplotypes in three ethnic groups and one cosmopolitan population from Tunísia. Forensic Sci Int. 152: 95-99
BELEZA S, GUSMAO L, AMORIM A, CARRACEDO A, SALAS A (2005) The genetic legacy of western Bantu migrations. Hum Genet. 117: 366-375
PEREIRA F, PEREIRA L, VAN ASCH B, BRADLEY DG, AMORIM A (2005) The mtDNA catalogue of all Portuguese autochthonous goat (Capra hircus) breeds: high diversity of female lineages at the western fringe of European distribution. Mol Ecol 14: 2313-8
VAN ASCH B, PEREIRA L, PEREIRA F, SANTA-RITA P, LIMA M, AMORIM A (2005) MtDNA diversity among four Portuguese autochthonous dog breeds: a fine-scale characterisation. BMC Genet. 6:37
PEREIRA L, GONCALVES J, GOIOS A, ROCHA T, AMORIM A (2005) Human mtDNA haplogroups and reduced male fertility: real association or hidden population substructuring. Int J Androl. 28:241-7
PEREIRA L, CUNHA C, ALVES C, AMORIM A (2005) African Female Heritage in Iberia: A Reassessment of mtDNA Lineage Distribution in Present Times. Hum Biol 77: 213-229
SAMPAIO P, GUSMAO L, CORREIA A, ALVES C, RODRIGUES AG, PINA-VAZ C, AMORIM A, PAIS C (2005) New Microsatellite Multiplex PCR for Candida albicans Strain Typing Reveals Microevolutionary Changes.J Clin Microbiol. 43 :3869-76
OLIVEIRA E, ALVES S, QUENTAL S, FERREIRA F, NORTON L, COSTA V, AMORIM A, PRATA MJ (2005) The MTHFR C677T and A1298C Polymorphisms and Susceptibility to Childhood Acute Lymphoblastic Leukemia in Portugal. J Pediatr Hematol Oncol. 27: 425-429
CHERNI L, LOUESLATI BY, PEREIRA L, ENNAFAA H, AMORIM A, EL GAAIED AB (2005) Female gene pools of Berber and Arab neighboring communities in central Tunisia: microstructure of mtDNA variation in North Africa. Hum Biol. 77: 61-70
GOIOS A, NOGUEIRA C, PEREIRA C, VILARINHO L, AMORIM A, PEREIRA L (2005) mtDNA single macrodeletions associated with myopathies: Absence of haplogroup-related increased risk. J Inherit Metab Dis 28(5): 769-78
FERNANDO O, MOTA P, LIMA M, SILVA C, MONTIEL R, AMORIM A, PRATA MJ (2005) Peopling of the Azores Islands (Portugal): data from the Y chromosome. Hum Biol 77:189-99
SOUTO L, ALVES C, GUSMAO L, FERREIRA E, AMORIM A, CORTE-REAL F, VIEIRA DN (2005) Population data on 15 autosomal STRs in a sample from East Timor. Forensic Sci Int. 155(1):77-8
GUSMAO L, SANCHEZ-DIZ P, CALAFELL F, MARTIN P, ALONSO CA, ALVAREZ-FERNANDEZ F, ALVES C, BORJAS-FAJARDO L, BOZZO WR, BRAVO ML, BUILES JJ, CAPILLA J, CARVALHO M, CASTILLO C, CATANESI CI, CORACH D, DI LONARDO AM, ESPINHEIRA R, FAGUNDES DE CARVALHO E, FARFAN MJ, FIGUEIREDO HP, GOMES I, LOJO MM, MARINO M, PINHEIRO MF, PONTES ML, PRIETO V, RAMOS-LUIS E, RIANCHO JA, SOUZA GOES AC, SANTAPA OA, SUMITA DR, VALLEJO G, VIDAL RIOJA L, VIDE MC, VIEIRA DA SILVA CI, WHITTLE MR, ZABALA W, ZARRABEITIA MT, ALONSO A, CARRACEDO A, AMORIM A (2005) Mutation rates at Y chromosome specific microsatellites. Hum Mutat 26: 520-8
TROVOADA MJ, PEREIRA L, GUSMAO L, ABADE A, AMORIM A, PRATA MJ (2004) Pattern of mtDNA Variation in Three Populations from Sao Tome e Principe. Ann Hum Genet. 68: 40-54
ALVES C, GUSMÃO L, DAMASCENO A, SOARES B, AMORIM A (2004) Contribution for an African autosomic STR database (AmpF/STR Identifiler and Powerplex 16 System) and a report on genotypic variations, Forensic Sci Int 139: 201-205
PEREIRA L, CUNHA C, AMORIM A (2004) . Predicting sampling saturation of mtDNA haplotypes: an application to an enlarged Portuguese database. Int J Legal Med 118:132-6
LOPEZ AM, ALVAREZ S, GUSMAO L, ALVES C, MESA MS, ALBENTOSA A, ARRIBAS G, LOPEZ R, BARRIO PA, AMORIM A, ARROYO-PARDO E (2004) Population data for 16 Y-chromosome STRs in four populations from Pyrenees (Spain). Forensic Sci Int 140:125-9
PEREIRA L, VAN ASCH B, AMORIM A (2004) Standardisation of nomenclature for dog mtDNA D-loop: a prerequisite for launching a Canis familiaris database. Forensic Sci Int 141: 99-108
BELEZA S, ALVES C, REIS F, AMORIM A, CARRACEDO A, GUSMÃO L (2004) 17 STR data (AmpF/STR Identifiler and Powerplex 16 System) from Cabinda (Angola). Forensic Sci Int 141: 193-196
ALVES S, ROCHA J, AMORIM A, PRATA MJ (2004) Tracing the origin of the most common thiopurine methyltransferase (TPMT) variants: preliminary data from the patterns of haplotypic association with two CA repeats. Ann Hum Genet 68:313-23
LOPES AM, CALAFELL F, AMORIM A (2004) Microsatellite Variation and Evolutionary History of PCDHX/Y Gene Pair Within the Xq21.3/Yp11.2 Hominid-Specific Homology Block. Mol Biol Evol. 21: 2092-2101
SAMPAIO P, GUSMAO L, ALVES C, PINA-VAZ C, AMORIM A, PAIS C (2003) Highly Polymorphic Microsatellite for Identification of Candida albicans Strains. J Clin Microbiol 41(2):552-557
BELEZA S, ALVES C, GONZALEZ-NEIRA A, LAREU M, AMORIM A, CARRACEDO A, GUSMAO L (2003) Extending STR markers in Y chromosome haplotypes. Int J Legal Med 117(1):27-33
GUSMAO L, KRAWCZAK M, SANCHEZ-DIZ P, ALVES C, LOPES A, BELEZA S, CARRACEDO A, AMORIM A (2003) Bimodal allele frequency distribution at Y-STR loci DYS392 and DYS438: no evidence for a deviation from the stepwise mutation model.Int J Legal Med 117: 287 – 290
ZARRABEITIA MT, RIANCHO JA, GUSMAO L, LAREU MV, SANUDO C, AMORIM A, CARRACEDO A (2003) Spanish population data and forensic usefulness of a novel Y-STR set (DYS437, DYS438, DYS439, DYS460, DYS461, GATA A10, GATA C4, GATA H4). Int J Legal Med. 117: 306 – 311
AZEVEDO L, STOLNAJA L, TIETZEOVA E, HREBICEK M, HRUBA E, VILARINHO L, AMORIM A, DVORAKOVA L (2003) New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis. Mol Genet Metab 78(2):152-157.
GUSMAO L, SANCHEZ-DIZ P, ALVES C, BELEZA S, LOPES A, CARRACEDO A, AMORIM A (2003) Grouping of Y-STR haplotypes discloses European geographic clines. Forensic Sci Int. 134: 172-179
ALVES C, GUSMAO L, BARBOSA J, AMORIM A (2003) Evaluating the informative power of Y-STRs: a comparative study using European and new African haplotype data. Forensic Sci Int. 134: 126-133.
GUSMAO L, SANCHEZ-DIZ P, ALVES C, QUINTANS B, GARCI;A-POVEDA E, GEADA H, RAIMONDI E, MARI;A SILVA DE LA FUENTE S, VIDE MC, WHITTLE MR, ZARRABEITIA MT, CARVALHO M, NEGREIROS V, PRIETO SOLLA L, RIANCHO JA, CAMPOS-SANCHEZ R, VIEIRA-SILVA C, TOSCANINI U, AMORIM A, CARRACEDO A (2003) Results of the GEP-ISFG collaborative study on the Y chromosome STRs GATA A10, GATA C4, GATA H4, DYS437, DYS438, DYS439, DYS460 and DYS461: population data. Forensic Sci Int. 135:150-157
SANCHEZ-DIZ P, GUSMAO L, BELEZA S, BENI;TEZ-PAEZ A, CASTRO A, GARCI;A O, SOLLA LP, GEADA H, MARTI;N P, MARTI;NEZ-JARRETA B, DE FATIMA PINHEIRO M, RAIMONDI E, MARI;A SILVA DE LA FUENTE S, VIDE MC, WHITTLE MR, ZARRABEITIA MT, CARRACEDO A, AMORIM A (2003) Results of the GEP-ISFG collaborative study on two Y-STRs tetraplexes: GEPY I (DYS461, GATA C4, DYS437 and DYS438) and GEPY II (DYS460, GATA A10, GATA H4 and DYS439). Forensic Sci Int. 135:158-162
DUPANLOUP I, PEREIRA L, BERTORELLE G, CALAFELL F, PRATA MJ, AMORIM A, BARBUJANI G (2003) A recent shift from polygyny to monogamy in humans is suggested by the analysis of worldwide Y-chromosome diversity. J Mol Evol 57: 85-97
BREHM A, PEREIRA L, KIVISILD T, AMORIM A (2003) Mitochondrial portraits of the Madeira and Acores archipelagos witness different genetic pools of its settlers. Hum Genet. 114: 77-86
LESUEUR F, CORBEX M, MCKAY JD, LIMA J, SOARES P, GRISERI P, BURGESS J, CECCHERINI I, LANDOLFI S, PAPOTTI M, AMORIM A, GOLDGAR DE, ROMEO G (2002) Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma. J Med Genet 39(4): 260-265
GUSMÃO L, GONZALEZ-NEIRA A, ALVES C, SANCHEZ-DIZ P, DAUBER EM, AMORIM A, CARRACEDO A (2002) Genetic diversity of Y-specific STRs in chimpanzees (Pan troglodytes). Am J Primatol 57:21-29
FERNANDES AT, BREHM A, ALVES C, GUSMAO L, AMORIM A (2002) Genetic profile of the Madeira Archipelago population using the new PowerPlex16 System kit. Forensic Sci Int 125:281-3
BREHM A, PEREIRA L, BANDELT HJ, PRATA MJ, AMORIM A (2002) Mitochondrial portrait of the Cabo Verde archipelago: the Senegambian outpost of Atlantic slave trade. Ann Hum Genet. 66:49-60
GUSMÃO L, ALVES C, BELEZA S, AMORIM A (2002) Forensic evaluation and population data on the new Y-STRs DYS434, DYS437, DYS438, DYS439 and GATA A10. Int J Leg Med 116:139-147
GUSMÃO L, GONZALEZ-NEIRA, AALVES C, LAREU M, COSTA S, AMORIM A, CARRACEDO A (2002) Chimpanzee homologous of human Y specific STRs. A comparative study and a proposal for nomenclature. Forensic Sci Int 126:129-136
MARTINS S, TRIGO F, AZEVEDO L, SILVA MJ, GUIMARAES JE, AMORIM A (2002) Haplotype study of microsatellites flanking the t(15;17) breakpoint in acute promyelocytic leukemia patients from North Portugal. Leukemia 16: 1353-7
ALVES S, AMORIM A, FERREIRA F, NORTON L, PRATA MJ (2002) The GSTM1 and GSTT1 genetic polymorphisms and susceptibility to acute lymphoblastic leukemia in children from north Portugal. Leukemia 16:1565-7
ALVES S, AMORIM A, PRATA MJ (2002) Evolution of a VNTR located within the promoter region of the thiopurine methyltransferase gene: inferences from population and sequence data. Hum Genet 111: 172-178
AZEVEDO L, VILARINHO L, TELES EL, AMORIM A (2002) Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis. Mol Genet Metab 76: 68-70
GUSMÃO L, ALVES C, COSTA S, AMORIM A, BRION M, GONZALEZ-NEIRA A, SÁNCHEZ-DIZ P, CARRACEDO A (2002) Point mutations in the flanking regions of the Y-chromosome specific STRs DYS391, DYS437 and DYS438. Int J Legal Med 116: 322-326
PEREIRA L, PRATA MJ, AMORIM A (2002) Mismatch distribution analysis of Y-STR haplotypes as a tool for the evaluation of identity-by-state proportions and significance of matches-the European picture. Forensic Sci Int 130: 147-155
PEREIRA L, GUSMAO L, ALVES C, AMORIM A, PRATA MJ (2002) Bantu and European Y-lineages in Sub-Saharan Africa. Ann Hum Genet 66: 369-78
AZEVEDO L, CALAFELL F, VILARINHO L, AMORIM A (2002) Haplotype analysis and phylogeny of ornithine transcarbamylase polymorphisms. Ann Hum Genet 66: 379-85
AMORIM A, GUSMÃO L, ALVES C (2001) STR data (AmpFlSTR Profiler Plus) from north Portugal. Forensic Sci Int 115: 119-121
GUSMÃO L, PRATA MJ, MIRANDA C, TROVOADA MJ, AMORIM A (2001) STR data from S. Tome e Principe (Gulf of Guinea, West Africa). Forensic Sci Int 116: 53-54
SEIXAS S, GARCIA O, TROVOADA MJ, SANTOS MT, AMORIM A, ROCHA J (2001) Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the 1-antitrypsin polymorphism. Hum Genet 108: 20-30
ROEWER L, KRAWCZAK M, WILLUWEIT S, NAGY M, ALVES C, AMORIM A, ANSLINGER K, AUGUSTIN C, BETZ A, BOSCH E, CAGLIÁ A, CARRACEDO A, CORACH D, DEKAIRELLE A-F, DOBOSZ T, DUPUY BM, FÜREDI S, GEHRIG C, GUSMÃO L, HENKE J, HENKE L, HIDDING M, HOHOFF C, HOSTE B, JOBLING MA, KÄRGEL HJ, DE KNIJFF P, LESSIG R, LIEBEHERR E, LORENTE M, MARTÍNEZ-JARRETA B, NIEVAS P, NOWAK M, PARSON W, PASCALI VL, PENACINO G, PLOSKI R, ROLF B, SALAS A, SCHMIDT U, SCHMITT C, SCHNEIDER PM, SZIBOR R, TEIFEL-GREDING J, KAYSER M (2001) Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes. Forensic Sci Int 118:106-113
ALVES C, GUSMÃO L, AMORIM A (2001) STR data (AmpFlSTR Profiler Plus and GenePrint CTTv) from Mozambique. Forensic Sci Int 119: 146-148.
TROVOADA MJ, ALVES C, GUSMAO L, ABADE A, AMORIM A, PRATA MJ (2001) Evidence for population sub-structuring in Sao Tome e Principe as inferred from Y-chromosome STR analysis. Ann Hum Genet 65:271-83
GUSMAO L, ALVES C, AMORIM A (2001) Molecular characteristics of four human Y-specific microsatellites (DYS434, DYD437, DYS438, DYS439) for population and forensic studies. Ann Hum Genet 65:285-91
MANCO L, OLIVEIRA AL, GOMES C, GRANJO A, DE JESUS TROVOADA M, RIBEIRO ML, ABADE A, AMORIM A (2001) Population genetics of four PKLR intragenic polymorphisms in Portugal and Sao Tome e Principe (Gulf of Guinea). Hum Biol 73: 467-74
SILVA F, CARVALHO F, PEIXOTO A, SEIXAS M, ALMEIDA R, CARNEIRO F, MESQUITA P, FIGUEIREDO C, NOGUEIRA C, SWALLOW DM, AMORIM A, DAVID L. (2001) MUC1 gene polymorphism in the gastric carcinogenesis pathway. Eur J Hum Genet 9: 548-52
ALVES S, AMORIM A, FERREIRA F, PRATA MJ. (2001) Influence of the variable number of tandem repeats located in the promoter region of the thiopurine methyltransferase gene on enzymatic activity. Clin Pharmacol Ther 70: 165-74
ALVES C, AMORIM A, GUSMÃO L, PEREIRA L (2001) VWA STR genotyping: further inconsistencies between Perkin-Elmer and Promega kits Int J Leg Med 115: 97-99
MACHADO JC, PHAROAH P, SOUSA S, CARVALHO R, OLIVEIRA C, FIGUEIREDO C, AMORIM A, SERUCA R, CALDAS C, CARNEIRO F, SOBRINHO-SIMÕES M (2001) Interleukin-1B and interleukin-1 RN polymorphisms are associated with increased risk of gastric carcinoma. Gastroenterology 121: 823-829
FERNANDES AT, BREHM A, GUSMAO L, AMORIM A (2001) Y-chromosome STR haplotypes in the Madeira archipelago population. Forensic Sci Int 122:178-80
GUSMÃO L, PRATA MJ, SÁNCHEZ-DIZ P, LAREU MV, CARRACEDO A, ALVES C, MARTINS N, AMORIM A (2001): STR data for the AmpFlSTR Profiler Plus loci from Macau (China). Forensic Sci Int 123: 74-75
ALVES C, GUSMÃO L, PEREIRA L, AMORIM A (2001) STR data (CD4, CSF1PO, F13A01, FES/FPS, MBPB, TH01, TPOX) from North Portugal. Forensic Sci Int 123: 76-77
PEREIRA L, MACAULAY V, TORRONI A, SCOZZARI R, PRATA MJ, AMORIM A (2001) Prehistoric and historic traces in the mtDNA of Mozambique: insights into the Bantu expansions and the slave trade. Ann. Hum. Genet. 65:439-458.
BANDELT H-J, ALVES-SILVA J, GUIMARÃES PEM, SANTOS MS, BREHM A, PEREIRA L, COPPA A, LARRUGA JM, RENGO C, SCOZZARI R, TORRONI A, PRATA MJ, AMORIM A, PRADO VF, PENA SDJ (2001) Phylogeography of the human mitochondrial haplogroup L3e: a snapshot of African prehistory and Atlantic slave trade. Ann. Hum. Genet. 65: 549-563
ALVES S, PRATA MJ, FERREIRA F, AMORIM A (2000). Screening of thiopurine S-methyltransferase mutations by horizontal conformation sensitive gel electrophoresis. Hum Mutat 15: 246-253
PRATA MJ, MIRANDA C, ROCHA J, AMORIM A (2000) Allelic Affinities between the F13A Common Gene Products Inferred by the Analysis of an (AAAG)n STR Polymorphism within the 5' Untranslated Region. Hum Hered 50:189-193
GONZALEZ-NEIRA A, GUSMÃO L, BRION M, LAREU MV, AMORIM A, CARRACEDO A (2000) Distribution of Y-chromosome STR defined haplotypes in Iberia. Forensic Sci Int 110:117-126
PÉREZ-LEZAUN A, CALAFELL F, CLARIMÓN J, BOSCH E, MATEU E, GUSMÃO L, AMORIM A, BENCHEMSI N, BERTRANPETIT J (2000) Allele frequencies of 13 short tandem repeats in population samples from the Iberian Peninsula and Northern Africa. Int J Leg Med 113: 208-214
PEREIRA L, GUSMAO L, PRATA MJ, MOTA P, TROVOADA MJ, AMORIM A (2000) Variation in STR loci of the human myelin basic protein gene: north Portugal and Sao Tome e Principe. Hum Biol 72:481-7
GUSMAO L, GONZALEZ-NEIRA A, SANCHEZ-DIZ P, LAREU MV, AMORIM A, CARRACEDO A (2000) Alternative primers for DYS391 typing: advantages of their application to forensic genetics. Forensic Sci Int 112:49-57
ALVES C, SILVA F, GUSMÃO L, SERUCA R, SOARES P, REIS RM, AMORIM A (2000) Extended structural variation of a pentanucleotide repeat in the GSTP1 gene: characterisation in a normal population and in thyroid and gastric tumours. Eur J Hum Genet 8: 540-544
ROSSER ZH, ZERJAL T, HURLES ME, ADOJAAN M, ALAVANTIC D, AMORIM A, AMOS W, ARMENTEROS M, ARROYO E, BARBUJANI G, BECKMAN G, BECKMAN L, BERTRANPETIT J, BOSCH E, BRADLEY DG, BREDE G, COOPER G, CORTE-REAL HB, DE KNIJFF P, DECORTE R, DUBROVA, YE, EVGRAFOV O, GILISSEN A, GLISIC S, GOLGE M, HILL EW, JEZIOROWSKA A, KALAYDJIEVA L, KAYSER M, KIVISILD T, KRAVCHENKO SA, KRUMINA A, KUCINSKAS V, LAVINHA J, LIVSHITS LA, MALASPINA P, MARIA S, MCELREAVEY K, MEITINGER TA, MIKELSAAR AV, MITCHELL RJ, NAFA K, NICHOLSON J, NORBY S, PANDYA A, PARIK J, PATSALIS PC, PEREIRA L, PETERLIN B, PIELBERG G, PRATA MJ, PREVIDERE C, ROEWER L, ROOTSI S, RUBINSZTEIN DC, SAILLARD J, SANTOS FR, STEFANESCU G, SYKES BC, TOLUN A, VILLEMS R, TYLER-SMITH C, JOBLING MA (2000) Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language. Am J Hum Genet 67: 1526-1543
GUSMÃO L, SANCHEZ-DIZ P, ALVES C, LAREU MV, CARRACEDO A, AMORIM A (2000): Genetic diversity of nine STRs in two northwest Iberian populations: Galicia and northern Portugal. Int J Leg Med 114: 109-113.
PEREIRA L, PRATA MJ, BRIÓN M, JOBLING MA, CARRACEDO A, AMORIM A (2000) Clinal variation of the YAP+ Y chromosome frequencies in Western Iberia. Hum. Biol. 72: 937-944.
PEREIRA L, PRATA MJ, AMORIM A (2000) Diversity of mtDNA lineages in Portugal: not a genetic edge of European variation. Ann Hum Genet. 64: 491-506.
SILVA F, GUSMÃO L, AMORIM A (1999) Segregation analysis of tetra- and pentanucleotide short tandem repeat polymorphisms: deviation from Mendelian expectations. Electrophoresis 20: 1697-701
ALVES S, PRATA MJ, FERREIRA F, AMORIM A (1999) Thiopurine methyltransferase pharmacogenetics: alternative molecular diagnostics and preliminary data from North Portugal. Pharmacogenetics 9: 257-261.
MUNAR-QUES M, PEDROSA JL, COELHO T, GUSMÃO L, SERUCA R, AMORIM A, SEQUEIROS J (1999) Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. J Med Genet 36: 629-32.
PEREIRA L, GUSMÃO L, PRATA MJ, MOTA P, TROVOADA MJ, AMORIM A (1999) Detection of additional structural variation at the FES/FPS system and population data from S. Tome e Principe and North Portugal. Int J Legal Med 112: 204-6.
CARVALHO F, PEIXOTO A, STEFFENSEN R, AMORIM A, DAVID L, SOBRINHO-SIMÕES M (1999) MUC1 gene polymorphism does not explain the different incidence of gastric cancer in Portugal and Denmark. Ann Hum Genet 63: 187-191
SANTOS F, AMORIM A, ROCHA J, KÖMPF J (1999) Adenosine deaminase (ADA) polymorphisms at protein and DNA levels. Hum Biol 71: 1009-1013
PEIXOTO A, SANTOS MR, SERUCA R, AMORIM A, CASTEDO S (1998) Analysis of FMR1 and flanking microsatellite markers in normal and fragile X chromosomes in Portugal: evidence for a "protector" haplotype. Eur J Hum Genet 6: 518-522.
ROCHA J, PINTO D, SANTOS MT, AMORIM A, AMIL-DIAS J, CARDOSO-RODRIGUES F, AGUIAR A (1997) Analysis of the allelic diversity of (CA)n repeats polymorphism among -1-antitrypsin gene products from Northern Portugal. Hum Genet 99: 194-198
GUSMÃO L, PRATA MJ, AMORIM A, SILVA F, BESSA I (1997) Characterisation of four short tandem repeat (STR) loci - TH01, VWA31/A, CD4 and TP53 - in North Portugal. Hum Biol 69: 31-40
SILVA F, GUSMÃO L, ALVES C, SERUCA R, DAVID L, AMORIM A (1997) Tetra- and pentanucleotide short tandem repeat instability in gastric cancer. Electrophoresis 18:1633-1636
GÓMEZ J, RODRIGUEZ-CALVO MS, ALBARRÁN C, AMORIM A ANDRADAS J, CABRERO C, CALVET R, CORACH D, CRESPILLO M, DOUTREMÉPUICH C, GARCÍA O, GEADA H, GENÉ M, JIMENEZ S, LORENTE JA, MARQUES-SANTOS SM, MARTÍNEZ-JARRETA B, MARTÍNEZ DE PANCORBO M, MONTES F, RUÍZ DE LA CUESTA JM, SANZ P, TERRA-PINHEIRO MF, VIDE MC, CARRACEDO A (1997) A review of the collaborative exercises on DNA typing of the Spanish and Portuguese ISFH working group. Int J Leg Med 110: 273-277.
GARCIA E, CARVALHO F, AMORIM A, DAVID L (1997) MUC6 gene polymorphism in healthy individuals and in gastric cancer patients from northern Portugal. Cancer Epidemiol Biomarkers Prev 6:1071-1074
GUSMÃO L, AMORIM A, PRATA MJ, PEREIRA L, LAREU MV, CARRACEDO A (1996) Failed PCR amplifications of MBP-STR alleles due to polymorphism in the primer annealing region. Int J Leg Med 108: 313-315
CARVALHO F, SERUCA R, DAVID D, AMORIM A, SEIXAS M, CLAUSEN H, SOBRINHO-SIMÕES M (1996) MUC1 gene polymorphism and gastric cancer. An epidemiologial study. Glycoconjugate Journal 14: 107-111
GUSMÃO L, PRATA MJ, AMORIM A (1995) The STR system hTPO: population and segregation data. Int J Leg Med 108: 167-169
SANTOS F, AMORIM A, KÖMPF J (1995) Specific staining of glycine N-methyl transferase. Electrophoresis 16: 1898-1899
AMORIM A, ROCHA J, SANTOS MT (1994) Distribution of ACP1, AK1 and ALAD polymorphisms in Northern Portugal. Gene Geography 8: 147-150
ROCHA J, AMORIM A, LUCKENBACH C, KÖMPF J, RITTER H (1993) Subtyping of alkylated human orosomucoid: evidence for a duplicated gene, ORM1*F2S. Electrophoresis 14: 235-237
MANCO L, AMORIM A (1993) Human erythrocyte pyrimidine 5'-nucleotidase isozymes: effect of sulfhydryl reagents and electrophoretic mobility. Electrophoresis 14: 1084-1085
ROCHA J, KÖMPF J, FERRAND N, AMORIM A, RITTER H (1991) Separation of human alloalbumin variants by isoelectric focusing. Electrophoresis 12: 313-314
PRATA MJ, AMORIM A (1990) Formal and population genetics of F13A and FUCA1 polymorphisms in Northern Portugal. Hum Hered 40: 45-48
FERRAND N, AMORIM A (1990) Genetic polymorphism of SYMBOL 100 \f "GreekMathSymbols"-aminolaevulinic acid dehydratase (E.C. 4.2.1.24, ALAD) in the domestic rabbit. Animal Genetics 21: 217-219
KÖMPF J, LUCKENBACH C, KLOOR D, KRCZAL D, AMORIM A, RITTER H (1989) Linkage analyses of human peptidase C (PEPC), human factor H (HF) and coagulation factor XIIIB (F13B). Hum Genet 83: 97-98
KÖMPF J, AMORIM A, RITTER H, PRATA MJ (1989) Genetic polymorphism of human peptidase C, PEPC (E.C. 3.4.1.1): formal genetic and population data. Hum Genet 83: 197-198
SIEBERT G, AMORIM A (1987) Mitochondrial malic enzyme in human leukocytes. Hum Hered 37: 122-123
AMORIM A, ROCHA J, RITTER H, KÖMPF J (1988) Formal genetics of esterase D (ESD, E.C. 3.1.1.1.). Evidence for a sex-phenotype association. Hum Hered 38: 255-257
SOUSA M, MORADAS FERREIRA P, AMORIM A, AZEVEDO C (1988) Starfish acrosomal acid phosphatase: a morphological and biochemical study. Biol Cell 63:101-104
FERRAND N, CARVALHO G, AMORIM A (1988) Transferrin (Tf) polymorphism in wild rabbit, Oryctolagus cuniculus. Animal Genetics 19: 295-300
ROCHA J, AMORIM A, ALMEIDA VM, OLIVEIRA JP, LEÃO M, TAVARES MC, PEREIRA MS, VIDAL-PINHEIRO, L (1988) Gene dosage evidence for the regional assignment of GPT (glutamate-pyruvate transaminase; E.C. 2.6.1.2) locus to 8q24.2->8qter. Hum Genet 80: 299-300
ROCHA J, AMORIM A, KÖMPF J, RITTER H (1988) Demonstration of S-adenosyl homocysteine hydrolase (E.C. 3.3.1.1) polymorphism by means of isoelectric focusing. Ärztl Lab 34: 283-284
ROCHA J, AMORIM A (1986) A technical note on esterase D subtyping. Electrophoresis 7: 291-292
AMORIM A (1983) A comment on the demonstration of erythrocytic aminotransferases on starch gels. Am J Hum Genet 35: 533
AMORIM A, SIEBERT G (1982) Glutamate pyruvate transaminase, esterase D, glyoxalase 1 and phosphoglucomutase 1 polymorphisms in Porto district (Portugal). Hum Hered 32: 298-300
AMORIM A, KÖMPF J, SCHUNTER F, RITTER H (1982) Aminolevulinate dehydratase (E.C.4.2.1.24): linkage analysis. Hum Genet 61: 48-49
AMORIM A, SIEBERT G, RITTER H, KÖMPF J (1980) Formal genetics of phosphoglycolate phosphatase (PGP): investigation on 272 mother-child pairs. Hum Genet 53: 419-420
SIEBERT G, AMORIM A, KÖMPF J (1980) Human phosphoglycolate phosphatase (PGP) E.C.3.1.3.18: linkage analysis. Hum Genet 53: 421-423
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