Luisa, PhD - Hospital of Divino Espirito Santo of Ponta Delgada, EPER - Principal Investigator

Luisa

PhD

Hospital of Divino Espirito Santo of Ponta Delgada, EPER

Principal Investigator

Ponta Delgada, Azores Islands | Portugal

Main Specialties: Biology

Additional Specialties: Human Molecular Genetics, Pharmacogenetics

ORCID logohttps://orcid.org/0000-0003-1451-6705

Luisa, PhD - Hospital of Divino Espirito Santo of Ponta Delgada, EPER - Principal Investigator

Luisa

PhD

Introduction

Primary Affiliation: Hospital of Divino Espirito Santo of Ponta Delgada, EPER - Ponta Delgada, Azores Islands , Portugal

Specialties:

Additional Specialties:

Education

Sep 1989 - Sep 1990
Université Paris Diderot
Diplôme d’Etudes Approfondies (Master degree)
INSERM U73
Sep 1989 - Sep 1990
Université Paris Diderot
Diplôme d’Etudes Approfondies (Master degree)
INSERM U73
Jan 1980 - Dec 1985
Universidade de Lisboa Faculdade de Ciências
Licenciatura

Experience

Jan 2010
Universidade de Lisboa

BioISI - Biosystems & Integrative Sciences Institute
Feb 2007
Hospital do Divino Espírito Santo de Ponta Delgada, EPER
Principal Investigator and group leader
Molecular Genetics and Pathology Unit

Publications

105Publications

779Reads

688Profile Views

169PubMed Central Citations

Yoga in primary health care: A quasi-experimental study to access the effects on quality of life and psychological distress.

Complement Ther Clin Pract 2019 Feb 25;34:1-7. Epub 2018 Oct 25.

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPER, São Miguel Island, Azores, Portugal; BioISI - Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Portugal; Instituto Gulbenkian de Ciência, Oeiras, Portugal.

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http://dx.doi.org/10.1016/j.ctcp.2018.10.012DOI Listing
February 2019

Prenatal sonographic diagnosis of isolated fetal ascites in cri-du-chat (5p-) syndrome: A case report.

J Clin Ultrasound 2018 Dec 4. Epub 2018 Dec 4.

Molecular Genetics and Pathology Unit, Hospital of Divino Espirito Santo of Ponta Delgada, EPER, São Miguel Island, Azores, Portugal.

Isolated fetal ascites and cri-du-chat syndrome (CdCS; OMIM #123450) are two very rare conditions that, to our best knowledge, have never been reported together. Here, we describe a case of isolated fetal ascites detected in the first trimester ultrasound, with no other remarkable signs. After an extensive work-up (fetal ultrasound, serologies, Coombs test, and NIPT), an amniocentesis was performed and revealed an abnormal karyotype of 46,XX,del (p15.2), characteristic of CdCS. We hypothesize that isolated fetal ascites has to be considered an antenatal ultrasonographic marker for CdCS, a finding that should be confirmed in further cases.

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http://dx.doi.org/10.1002/jcu.22679DOI Listing
December 2018
0.801 Impact Factor

Diagnosis of Human Leptospirosis in a Clinical Setting: Real-Time PCR High Resolution Melting Analysis for Detection of Leptospira at the Onset of Disease.

Sci Rep 2018 Jun 15;8(1):9213. Epub 2018 Jun 15.

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPER, São Miguel Island, Azores, Portugal.

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http://dx.doi.org/10.1038/s41598-018-27555-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003994PMC
June 2018
72 Reads
5.080 Impact Factor

Severe phenotype of junctional epidermolysis bullosa generalised intermediate type caused by homozygous COL17A1:c.505C>T (p.Arg169*) mutation.

Eur J Dermatol 2018 Jun;28(3):412-413

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPER, Ponta Delgada, São Miguel Island, Azores, Portugal, BioISI - Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Lisboa, Portugal, Instituto Gulbenkian de Ciência, Oeiras, Portugal.

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http://dx.doi.org/10.1684/ejd.2018.3279DOI Listing
June 2018
1 Read
1.990 Impact Factor

A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?

Int J Endocrinol 2018 20;2018:8470642. Epub 2018 Mar 20.

Unidade de Genética e Patologia Moleculares, Hospital do Divino Espírito Santo de Ponta Delgada (EPER), Av. D. Manuel I, 9500-370 Ponta Delgada, Açores, Portugal.

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http://dx.doi.org/10.1155/2018/8470642DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884154PMC
March 2018
5 Reads
1.515 Impact Factor

A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report.

BMC Dermatol 2018 01 20;18(1). Epub 2018 Jan 20.

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPER, Av. D. Manuel I, 9500-370, Ponta Delgada, São Miguel Island, Azores, Portugal.

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http://dx.doi.org/10.1186/s12895-018-0069-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5775598PMC
January 2018
12 Reads

Mitochondrial DNA analysis of Tunisians reveals a mosaic genetic structure with recent population expansion.

Homo 2017 Aug 19;68(4):298-315. Epub 2017 May 19.

Laboratory of Molecular Genetics, Immunology and Human Pathology at the Faculty of Sciences of Tunis, University Tunis El Manar, 2092 Tunis, Tunisia.

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http://dx.doi.org/10.1016/j.jchb.2017.05.003DOI Listing
August 2017
5 Reads

Genetic variants involved in oxidative stress, base excision repair, DNA methylation, and folate metabolism pathways influence myeloid neoplasias susceptibility and prognosis.

Mol Carcinog 2017 01 7;56(1):130-148. Epub 2016 Mar 7.

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPE, Ponta Delgada, São Miguel Island, Azores, Portugal.

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http://dx.doi.org/10.1002/mc.22478DOI Listing
January 2017
9 Reads
3 Citations
4.810 Impact Factor

Genealogical and molecular analysis of a family-based cohort of congenital heart disease patients from the São Miguel Island (Azores, Portugal).

Ann Hum Biol 2016 Nov 13;43(6):547-553. Epub 2015 Dec 13.

a Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPE , São Miguel Island, Azores , Portugal.

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http://dx.doi.org/10.3109/03014460.2015.1119888DOI Listing
November 2016
9 Reads
1.273 Impact Factor

Molecular diagnosis of infectious diseases in São Miguel Island (Azores, Portugal): A hospital-based descriptive study.

J Infect Dev Ctries 2016 Sep 30;10(9):956-967. Epub 2016 Sep 30.

The University of Azores, São Miguel Island, Azores, Portugal.

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http://dx.doi.org/10.3855/jidc.7906DOI Listing
September 2016
25 Reads
1.270 Impact Factor

Oxidative stress levels are correlated with P15 and P16 gene promoter methylation in myelodysplastic syndrome patients.

Clin Exp Med 2016 Aug 17;16(3):333-43. Epub 2015 May 17.

Applied Molecular Biology, University Clinic of Hematology, Center of Investigation in Environment, Genetics and Oncobiology (CIMAGO), Faculty of Medicine, University of Coimbra (FMUC), Azinhaga de Santa Comba - Celas, 3000-548, Coimbra, Portugal.

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http://dx.doi.org/10.1007/s10238-015-0357-2DOI Listing
August 2016
38 Reads
5 Citations
2.824 Impact Factor

Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal).

PLoS One 2015 26;10(10):e0140228. Epub 2015 Oct 26.

Molecular Genetics and Pathology Unit, Hospital of Divino Espirito Santo of Ponta Delgada, EPE, São Miguel Island, Azores, Portugal; Instituto Gulbenkian de Ciência, Oeiras, Portugal; BioISI - Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Lisboa, Portugal.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0140228PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4621060PMC
June 2016
16 Reads
3.234 Impact Factor

Oxidative stress and mitochondrial dysfunction play a role in myelodysplastic syndrome development, diagnosis, and prognosis: A pilot study.

Free Radic Res 2015 25;49(9):1081-94. Epub 2015 May 25.

Laboratory of Oncobiology and Hematology, FMUC - Faculty of Medicine, University of Coimbra , Coimbra , Portugal.

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http://dx.doi.org/10.3109/10715762.2015.1035268DOI Listing
May 2016
6 Reads
4 Citations

Genetic variation in key genes associated with statin therapy in the Azores Islands (Portugal) healthy population.

Ann Hum Biol 2015 16;42(3):283-9. Epub 2014 Sep 16.

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada , EPE, São Miguel Island, Azores , Portugal .

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http://dx.doi.org/10.3109/03014460.2014.955056DOI Listing
April 2016
10 Reads
2 Citations
1.273 Impact Factor

Human leptospirosis: seroreactivity and genetic susceptibility in the population of São Miguel Island (Azores, Portugal).

PLoS One 2014 25;9(9):e108534. Epub 2014 Sep 25.

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPE, São Miguel Island, Azores, Portugal; Azores Genetics Research Group, Instituto Gulbenkian de Ciência, Oeiras, Portugal; Centre for Biodiversity, Functional and Integrative Genomics, Faculty of Sciences, University of Lisboa, Lisboa, Portugal.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0108534PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177921PMC
December 2015
7 Reads
8 Citations
3.234 Impact Factor

Paternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age.

Clin Med Insights Case Rep 2015 26;8:93-6. Epub 2015 Oct 26.

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPE, Ponta Delgada, Azores Islands, Portugal. ; Azores Genetics Research Group, Instituto Gulbenkian de Ciência, Oeiras, Portugal. ; BioISI - Biosystems and Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Lisboa, Portugal.

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http://dx.doi.org/10.4137/CCRep.S31958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4622419PMC
November 2015
11 Reads

A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.

BMC Pediatr 2015 Aug 22;15:95. Epub 2015 Aug 22.

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPE, Av. D. Manuel I, 9500-370, Ponta Delgada, São Miguel Island, Azores, Portugal.

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http://dx.doi.org/10.1186/s12887-015-0417-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4546098PMC
August 2015
22 Reads
5 Citations
1.920 Impact Factor

Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication.

BMC Genet 2014 Nov 7;15:115. Epub 2014 Nov 7.

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPE, Av. D. Manuel I, Ponta Delgada 9500-370, São Miguel Island, Azores, Portugal.

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http://dx.doi.org/10.1186/s12863-014-0115-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228150PMC
November 2014
22 Reads
3 Citations
2.400 Impact Factor

Genetic risk assessment for cardiovascular disease in Azoreans (Portugal): a general population-based study.

Gene 2013 Dec 13;532(1):132-9. Epub 2013 Sep 13.

Molecular Genetics and Pathology Unit, Hospital of Divino Espirito Santo of Ponta Delgada, EPE, São Miguel Island, Azores, Portugal.

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http://dx.doi.org/10.1016/j.gene.2013.08.099DOI Listing
December 2013
11 Reads
2.140 Impact Factor

A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract.

Thyroid 2013 Sep;23(9):1074-8

1 Department of Pediatrics, Hospital of Divino Espirito Santo , Ponta Delgada, Portugal .

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http://dx.doi.org/10.1089/thy.2012.0649DOI Listing
September 2013
9 Reads
5 Citations
4.493 Impact Factor

Three multiplex snapshot assays for SNP genotyping in candidate innate immune genes.

BMC Res Notes 2013 Feb 7;6:54. Epub 2013 Feb 7.

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPE, São Miguel Island, Azores, Portugal.

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http://dx.doi.org/10.1186/1756-0500-6-54DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626843PMC
February 2013
8 Reads
4 Citations

HLA class II susceptibility to cervical cancer among Tunisian women.

Bull Cancer 2012 Sep;99(9):81-6

El Manar University, Laboratory of Micro-Organisms and Active Biomolecules, Tunis, Tunisia.

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http://dx.doi.org/10.1684/bdc.2012.1623DOI Listing
September 2012
11 Reads
4 Citations
0.640 Impact Factor

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

Breast Cancer Res Treat 2011 Jun 22;127(3):671-9. Epub 2010 Jul 22.

Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, Porto 4200-072, Portugal.

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http://dx.doi.org/10.1007/s10549-010-1036-3DOI Listing
June 2011
70 Reads
11 Citations
3.940 Impact Factor

First isolation of human Leptospira strains, Azores, Portugal.

Int J Infect Dis 2010 Sep 21;14 Suppl 3:e148-53. Epub 2010 Apr 21.

Unidade de Leptospirose e Borreliose de Lyme, Instituto de Higiene e Medicina Tropical, Universidade Nova de Lisboa, Rua da Junqueira 100, Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.ijid.2009.12.004DOI Listing
September 2010
10 Reads
4 Citations
2.330 Impact Factor

HLA Class I and II profiles in São Miguel Island (Azores): genetic diversity and linkage disequilibrium.

BMC Res Notes 2010 May 12;3:134. Epub 2010 May 12.

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPE, São Miguel Island, Azores, Portugal.

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http://dx.doi.org/10.1186/1756-0500-3-134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883542PMC
May 2010
9 Reads
3 Citations

UGT1A1, UGT1A6 and UGT1A7 genetic analysis: repercussion for irinotecan pharmacogenetics in the São Miguel Island Population (Azores, Portugal).

Mol Diagn Ther 2009 ;13(4):261-8

Molecular Genetics and Pathology Unit, Hospital of Divino Espirito Santo of Ponta Delgada, São Miguel Island, Azores, Portugal.

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http://dx.doi.org/10.2165/11317170-000000000-00000DOI Listing
January 2010
14 Reads
4 Citations
2.891 Impact Factor

15 STR loci frequencies in the population from Paraná, Southern Brazil.

Forensic Sci Int Genet 2009 Dec 8;4(1):e23-4. Epub 2009 Feb 8.

Laboratório Alvaro, Centro de Análises e Pesquisas Clínicas, Rua General Osório 3212, Bairro Centro, 85801-110 Cascavel, Paraná, Brazil.

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http://dx.doi.org/10.1016/j.fsigen.2009.01.005DOI Listing
December 2009
11 Reads
4.604 Impact Factor

Thrombotic genetic risk factors and warfarin pharmacogenetic variants in São Miguel's healthy population (Azores).

Thromb J 2009 Jun 18;7. Epub 2009 Jun 18.

Molecular Genetics and Pathology Unit, Hospital of Divino Espirito Santo of Ponta Delgada, EPE, São Miguel Island, Azores, Portugal.

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http://dx.doi.org/10.1186/1477-9560-7-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706804PMC
June 2009
8 Reads
2 Citations

Linkage disequilibrium and diversity for three genomic regions in Azoreans and mainland Portuguese.

Genet Mol Biol 2009 Apr 1;32(2):220-6. Epub 2009 Jun 1.

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, São Miguel Island, Azores Portugal.

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http://dx.doi.org/10.1590/S1415-47572009000200003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036928PMC
April 2009
11 Reads
2 Citations
1.202 Impact Factor

Evaluation of linkage disequilibrium on the Xq13.3 region: comparison between the Azores islands and mainland Portugal.

Am J Hum Biol 2008 May-Jun;20(3):364-6

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPE, São Miguel Island, Azores, Portugal.

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http://dx.doi.org/10.1002/ajhb.20734DOI Listing
June 2008
13 Reads
4 Citations
1.700 Impact Factor

Azores Islands: genetic origin, gene flow and diversity pattern.

Ann Hum Biol 2008 Jan-Feb;35(1):65-74

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo, Ponta Delgada, São Miguel Island, Azores, Portugal.

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http://dx.doi.org/10.1080/03014460701793782DOI Listing
May 2008
8 Reads
3 Citations
1.273 Impact Factor

Genetic signature of the São Miguel Island population (Azores) assessed by 21 microsatellite loci.

Am J Hum Biol 2008 Jan-Feb;20(1):118-20

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo, Ponta Delgada, São Miguel Island, Azores, Portugal.

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http://dx.doi.org/10.1002/ajhb.20692DOI Listing
January 2008
9 Reads
3 Citations
1.700 Impact Factor

Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions.

Dev Med Child Neurol 2007 Oct;49(10):726-33

Centro de Desenvolvimento da Criança, Hospital Pediátrico de Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1111/j.1469-8749.2007.00726.xDOI Listing
October 2007
20 Reads
22 Citations
3.510 Impact Factor

Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy.

Epilepsy Res 2007 Aug 6;76(1):41-8. Epub 2007 Aug 6.

INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié-Salpêtrière, 47 boulevard de l'hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1016/j.eplepsyres.2007.06.014DOI Listing
August 2007
18 Reads
6 Citations
2.020 Impact Factor

Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease.

Mol Vis 2007 Aug 31;13:1568-72. Epub 2007 Aug 31.

The Rotterdam Eye Hospital, Rotterdam, The Netherlands.

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August 2007
15 Reads
3 Citations
1.990 Impact Factor

Epidemiological characterization of congenital heart disease in São Miguel Island, Azores, Portugal.

Community Genet 2006 ;9(2):107-12

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo, Ponta Delgada, São Miguel Island, Azores, Portugal.

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http://dx.doi.org/10.1159/000091488DOI Listing
September 2006
15 Reads
4 Citations

Assessment of Azorean ancestry by Alu insertion polymorphisms.

Am J Hum Biol 2006 Mar-Apr;18(2):223-6

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo, Ponta Delgada, São Miguel Island, Azores.

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http://dx.doi.org/10.1002/ajhb.20492DOI Listing
June 2006
7 Reads
3 Citations
1.700 Impact Factor

Evaluation of reference-based two-color methods for measurement of gene expression ratios using spotted cDNA microarrays.

BMC Genomics 2006 Feb 24;7:35. Epub 2006 Feb 24.

Departamento de Matemática, Universidade dos Açores, 9501-801 Ponta Delgada, Açores, Portugal.

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http://dx.doi.org/10.1186/1471-2164-7-35DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1402275PMC
February 2006
36 Reads
7 Citations
3.990 Impact Factor

Geography of surnames in the Azores: specificity and spatial distribution analysis.

Am J Hum Biol 2005 Sep-Oct;17(5):634-45

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo, Ponta Delgada, São Miguel Island, Azores, Portugal.

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http://dx.doi.org/10.1002/ajhb.20424DOI Listing
November 2005
9 Reads
1.700 Impact Factor

Surnames in the Azores: analysis of the isonymy structure.

Hum Biol 2005 Feb;77(1):37-44

Genetics and Molecular Pathology Unit, Hospital of Divino Espírito Santo, 9500-370 Ponta Delgada, São Miguel Island, Azores, Portugal.

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February 2005
17 Reads
0.853 Impact Factor

Failure to find alpha-synuclein gene dosage changes in 190 patients with familial Parkinson disease.

Arch Neurol 2005 Jan;62(1):96-8

Institute for Experimental Neurobiology, University Hospital, Theodor-Stern-Kai 7, 60590 Frankfurt/Main, Germany.

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http://dx.doi.org/10.1001/archneur.62.1.96DOI Listing
January 2005
5 Reads
1 Citation
7.420 Impact Factor

Population structure of São Miguel Island, Azores: a surname study.

Hum Biol 2003 Dec;75(6):929-39

Genetic and Molecular Pathology Unit, Hospital of Divino Espírito Santo, Ponta Delgada, São Miguel Island, Azores.

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December 2003
8 Reads
0.853 Impact Factor

Top co-authors

Claudia C Branco
Claudia C Branco

Hospital of Divino Espírito Santo

21
Rita Cabral
Rita Cabral

Coimbra University Hospital

16
Paula R Pacheco
Paula R Pacheco

Hospital of Divino Espírito Santo of Ponta Delgada

9
Astrid M Vicente
Astrid M Vicente

Hospital of Divino Espírito Santo of Ponta Delgada

5
Rui Anjos
Rui Anjos

Hospital de Santa Cruz

4
Lisa M Esteves
Lisa M Esteves

Hospital of Divino Espírito Santo of Ponta Delgada

3
Bernardo R Peixoto
Bernardo R Peixoto

Departamento de Matemática

3