Lavinia Schuler-Faccini

Lavinia Schuler-Faccini

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Lavinia Schuler-Faccini

Lavinia Schuler-Faccini

Publications by authors named "Lavinia Schuler-Faccini"

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Analysis of a Protein Network Related to Copy Number Variations in Autism Spectrum Disorder.

J Mol Neurosci 2019 Jun 3. Epub 2019 Jun 3.

Department of Genetics, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1007/s12031-019-01343-7DOI Listing
June 2019

Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency.

Gene 2019 May 9;699:102-109. Epub 2019 Mar 9.

Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; BRAIN Laboratory, Center for Experimental Research (CPE), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil; Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Medical Genetics Service, HCPA, Porto Alegre, RS, Brazil.

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https://linkinghub.elsevier.com/retrieve/pii/S03781119193022
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http://dx.doi.org/10.1016/j.gene.2019.03.007DOI Listing
May 2019

The role of FAS, FAS-L, BAX, and BCL-2 gene polymorphisms in determining susceptibility to unexplained recurrent pregnancy loss.

J Assist Reprod Genet 2019 May 2;36(5):995-1002. Epub 2019 Apr 2.

Department of Genetics, Institute of Biosciences, Universidade Federal do Rio Grande do Sul (UFRGS), Bento Gonçalves Avenue 9500, Campus do Vale, Porto Alegre, RS, CEP 91501970, Brazil.

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http://dx.doi.org/10.1007/s10815-019-01441-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541673PMC
May 2019

An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants.

Clin Genet 2019 Apr 19. Epub 2019 Apr 19.

Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

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http://dx.doi.org/10.1111/cge.13555DOI Listing
April 2019

ADGRL3 rs6551665 as a Common Vulnerability Factor Underlying Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder.

Neuromolecular Med 2019 Mar 16;21(1):60-67. Epub 2019 Jan 16.

Department of Genetics, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, UFRGS, Avenida Bento Gonçalves, 9500, Porto Alegre, RS, CEP: 91501-970, Brazil.

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http://dx.doi.org/10.1007/s12017-019-08525-xDOI Listing
March 2019

Genetic variants linked to folliculogenesis and successful pregnancy are not associated with twin births in a twins' town.

J Matern Fetal Neonatal Med 2019 Mar 7:1-8. Epub 2019 Mar 7.

a Post-graduate Program in Genetics and Molecular Biology, Department of Biosciences , Universidade Federal do Rio Grande do Sul , Porto Alegre , Brazil.

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http://dx.doi.org/10.1080/14767058.2019.1573791DOI Listing
March 2019

Clusters of genetic diseases in Brazil.

J Community Genet 2019 Jan 2;10(1):121-128. Epub 2018 Jun 2.

Post-Graduate Course in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande do Sul, Bento Gonçalves Avenue, 9500, Porto Alegre, RS, 91501-970, Brazil.

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http://dx.doi.org/10.1007/s12687-018-0369-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325042PMC
January 2019

Twin Peaks: A spatial and temporal study of twinning rates in Brazil.

PLoS One 2018 20;13(7):e0200885. Epub 2018 Jul 20.

Post-graduate Program in Genetics and Molecular Biology, Department of Biosciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0200885PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054405PMC
January 2019

Zika Virus as a Possible Risk Factor for Autism Spectrum Disorder: Neuroimmunological Aspects.

Neuroimmunomodulation 2018 10;25(5-6):320-327. Epub 2019 Jan 10.

Department of Genetics, Institute of Biosciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil,

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https://www.karger.com/Article/FullText/495660
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http://dx.doi.org/10.1159/000495660DOI Listing
January 2019

Collagen I Defect Corneal Profiles in Osteogenesis Imperfecta.

Cornea 2018 Dec;37(12):1561-1565

Medical Genetics Service, Clinical Hospital of Porto Alegre, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.

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http://Insights.ovid.com/crossref?an=00003226-900000000-9672
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http://dx.doi.org/10.1097/ICO.0000000000001764DOI Listing
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.

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

Intrafamilial clinical variability in four families with incontinentia pigmenti.

Am J Med Genet A 2018 Nov 27;176(11):2318-2324. Epub 2018 Aug 27.

Postgraduate Program in Genetics and Molecular Biology, Department of Genetics, Biosciences Institute, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.40497DOI Listing
November 2018

Profile of congenital anomalies among live births in the municipality of Tangará da Serra, Mato Grosso, Brazil, 2006-2016.

Epidemiol Serv Saude 2018 10 22;27(3):e2018008. Epub 2018 Oct 22.

Universidade Federal do Rio Grande do Sul, Departamento de Genética, Porto Alegre, RS, Brasil.

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http://dx.doi.org/10.5123/S1679-49742018000300017DOI Listing
October 2018

Why is congenital Zika syndrome asymmetrically distributed among human populations?

PLoS Biol 2018 08 24;16(8):e2006592. Epub 2018 Aug 24.

Institute of Biomedical Sciences, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.

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http://dx.doi.org/10.1371/journal.pbio.2006592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126861PMC
August 2018

Erythema Nodosum Leprosum: Update and challenges on the treatment of a neglected condition.

Acta Trop 2018 Jul 21;183:134-141. Epub 2018 Feb 21.

Postgraduate Program in Genetics and Molecular Biology. Universidade Federal do Rio Grande do Sul, Av. Bento Gonçalves, 9500 - Prédio 43312 M, Porto Alegre, RS, Brazil; INAGEMP, Instituto Nacional de Genética Médica Populacional, R. Ramiro Barcelos, 2350 - 21506 - Santa Cecilia, Porto Alegre, RS, Brazil; Teratogen Information Service, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, R. Ramiro Barcelos, 2350, Santa Cecília, Porto Alegre, RS, Brazil; Center of Experimental Research, Genomics Medicine Laboratory and Laboratory of Research in Bioethics and Ethics in Research (LAPEBEC), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.actatropica.2018.02.026DOI Listing
July 2018

Evidence for Association Between OXTR Gene and ASD Clinical Phenotypes.

J Mol Neurosci 2018 Jun 1;65(2):213-221. Epub 2018 Jun 1.

Department of Genetics, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

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http://link.springer.com/10.1007/s12031-018-1088-0
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http://dx.doi.org/10.1007/s12031-018-1088-0DOI Listing
June 2018

Angiogenesis and oxidative stress-related gene variants in recurrent pregnancy loss.

Reprod Fertil Dev 2018 Mar;30(3):498-506

Postgraduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, 91501-970, Brazil.

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http://dx.doi.org/10.1071/RD17117DOI Listing
March 2018

Genetic susceptibility to thalidomide embryopathy in humans: Study of candidate development genes.

Birth Defects Res 2018 03 28;110(5):456-461. Epub 2017 Nov 28.

Postgraduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.

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http://dx.doi.org/10.1002/bdr2.1163DOI Listing
March 2018

ZIKA Virus and Neuroscience: the Need for a Translational Collaboration.

Mol Neurobiol 2018 02 9;55(2):1551-1555. Epub 2017 Feb 9.

Department of Biochemistry, ICBS, Federal University of Rio Grande do Sul, 2600 Ramiro Barcelos St, Santana, Porto Alegre, RS, 90035003, Brazil.

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http://dx.doi.org/10.1007/s12035-017-0429-2DOI Listing
February 2018

Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment.

Am J Hum Genet 2017 Dec 30;101(6):913-924. Epub 2017 Nov 30.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA; Center for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA 15219, USA; Department of Anthropology, University of Pittsburgh, Pittsburgh, PA 15260, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812923PMC
December 2017

Leprosy in Southern Brazil: a twenty-year epidemiological profile.

Rev Soc Bras Med Trop 2017 Mar-Apr;50(2):251-255

Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brasil.

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http://dx.doi.org/10.1590/0037-8682-0229-2016DOI Listing
July 2017

Angiogenesis-related genes and thalidomide teratogenesis in humans: an approach on genetic variation and review of past in vitro studies.

Reprod Toxicol 2017 06 1;70:133-140. Epub 2017 Feb 1.

INAGEMP-Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil; Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Teratogen Information Service, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil; Service of Experimental Research, Genomics Medicine Laboratory, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.reprotox.2017.01.012DOI Listing
June 2017

Salivary secretory IgA concentration and dental caries in children with Down syndrome.

Spec Care Dentist 2017 May 6;37(3):115-119. Epub 2017 Mar 6.

Genetic Medical Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

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http://dx.doi.org/10.1111/scd.12222DOI Listing
May 2017

Teratogens: a public health issue - a Brazilian overview.

Genet Mol Biol 2017 Apr-Jun;40(2):387-397. Epub 2017 May 22.

Sistema Nacional de Informação sobre Agentes Teratogênicos (SIAT), Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1590/1678-4685-GMB-2016-0179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5488458PMC
May 2017

Analysis of Polymorphism rs1042522 in TP53 Gene in the Mothers of Twins and of Singletons: A Population-Based Study in Rio Grande do Sul, Brazil.

Twin Res Hum Genet 2017 04 9;20(2):132-136. Epub 2017 Feb 9.

Postgraduation Program on Adolescent and Child Health,Universidade Federal do Rio Grande do Sul,Porto Alegre,Brazil.

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http://dx.doi.org/10.1017/thg.2017.2DOI Listing
April 2017

Oral Health Status and Salivary Levels of Mutans Streptococci in Children with Down Syndrome.

Pediatr Dent 2015 Jul-Aug;37(4):355-60

Department of Preventive and Social Dentistry, Faculty of Dentistry, Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.

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January 2017

The impact of thalidomide use in birth defects in Brazil.

Eur J Med Genet 2017 Jan 13;60(1):12-15. Epub 2016 Sep 13.

National Institute of Medical Population Genetics (INAGEMP), Porto Alegre, Brazil; Post-graduate Program in Genetics and Molecular Biology, Rio Grande do Sul Federal University (UFRGS), Porto Alegre, Brazil; Teratogen Information Service, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

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http://dx.doi.org/10.1016/j.ejmg.2016.09.015DOI Listing
January 2017

Zika rash and increased risk of congenital brain abnormalities - Authors' reply.

Lancet 2017 01 13;389(10065):152. Epub 2017 Jan 13.

Programa de Pós-Graduação em Epidemiologia, Universidade Federal de Pelotas, Pelotas, Rio Grande do Sul, Brazil; Universidade Católica de Pelotas, Pelotas, Rio Grande do Sul, Brazil.

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http://dx.doi.org/10.1016/S0140-6736(17)30015-6DOI Listing
January 2017

Genomic and in silico analyses of CRBN gene and thalidomide embryopathy in humans.

Reprod Toxicol 2016 12 14;66:99-106. Epub 2016 Oct 14.

INAGEMP-Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil; Teratogen Information Service, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil; Post-Graduate program in Genetics and Molecular Biology, Genetics Department, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

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http://dx.doi.org/10.1016/j.reprotox.2016.10.003DOI Listing
December 2016

Congenital Zika virus syndrome in Brazil: a case series of the first 1501 livebirths with complete investigation.

Lancet 2016 Aug 29;388(10047):891-7. Epub 2016 Jun 29.

Programa de Pós-Graduação em Epidemiologia, Universidade Federal de Pelotas, Pelotas, Rio Grande do Sul, Brazil. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(16)30902-3DOI Listing
August 2016

Retinoblastoma in a pediatric oncology reference center in Southern Brazil.

BMC Pediatr 2016 Apr 3;16:48. Epub 2016 Apr 3.

Post-Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.

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http://dx.doi.org/10.1186/s12887-016-0579-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818960PMC
April 2016

Biochemical composition of the saliva and dental biofilm of children with Down syndrome.

Int J Paediatr Dent 2016 Mar 5;26(2):134-40. Epub 2015 May 5.

Department of Preventive and Social Dentistry, Faculty of Dentistry, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil.

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http://doi.wiley.com/10.1111/ipd.12168
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http://dx.doi.org/10.1111/ipd.12168DOI Listing
March 2016

Maple syrup urine disease in Brazil: a panorama of the last two decades.

J Pediatr (Rio J) 2015 May-Jun;91(3):292-8. Epub 2014 Dec 12.

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Brazilian MSUD Network, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1016/j.jped.2014.08.010DOI Listing
February 2016

Microcephaly in Brazil: how to interpret reported numbers?

Lancet 2016 Feb 7;387(10019):621-4. Epub 2016 Feb 7.

Programa de Pós-Graduação em Epidemiologia, Universidade Federal de Pelotas, Pelotas 96020-220, RS, Brazil; Faculdade de Medicina, Universidade Católica de Pelotas, Pelotas, RS, Brazil.

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http://dx.doi.org/10.1016/S0140-6736(16)00273-7DOI Listing
February 2016

Primary prevention of neural tube defects in Brazil: insights into anencephaly.

J Community Genet 2016 Jan 18;7(1):97-105. Epub 2015 Aug 18.

Departamento de Genetica, Universidade Federal do Rio Grande do Sul, Av. Bento Gonçalves 9500, Porto Alegre, Brazil.

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http://dx.doi.org/10.1007/s12687-015-0249-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715810PMC
January 2016

Glycogen storage disease type I: clinical and laboratory profile.

J Pediatr (Rio J) 2014 Nov-Dec;90(6):572-9. Epub 2014 Jul 11.

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.jped.2014.02.005DOI Listing
October 2015

Thalidomide embryopathy: Follow-up of cases born between 1959 and 2010.

Birth Defects Res A Clin Mol Teratol 2015 Sep 4;103(9):794-803. Epub 2015 Jun 4.

PPGBM (Programa de Pós Graduação em Genética e Biologia Molecular), Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

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http://dx.doi.org/10.1002/bdra.23376DOI Listing
September 2015

Project REENCONTRO: ethical aspects of genetic identification in families separated by the compulsory isolation of leprosy patients in Brazil.

J Community Genet 2015 Jul 13;6(3):215-22. Epub 2015 May 13.

Postgraduate Program in Social Anthropology, Federal University of Rio Grande do Sul (UFRGS), Av. Bento Gonçalves, 9500 - Prédio 43311, Block AI, Sala 104A, Porto Alegre, 91509-900, RS, Brazil,

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http://link.springer.com/10.1007/s12687-015-0227-3
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http://dx.doi.org/10.1007/s12687-015-0227-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4524834PMC
July 2015

Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm.

J Community Genet 2015 Jul 29;6(3):241-9. Epub 2015 May 29.

Ministry of Public Health of Uruguay, 18 de Julio 1892, 11200, Montevideo, Uruguay,

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http://dx.doi.org/10.1007/s12687-015-0236-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4524831PMC
July 2015

Self-assessment of color categories and its relationship with HLA profiling in Brazilian bone marrow donors.

Biol Blood Marrow Transplant 2015 Jun 20;21(6):1140-4. Epub 2015 Feb 20.

Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10838791150012
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http://dx.doi.org/10.1016/j.bbmt.2015.02.019DOI Listing
June 2015

Pharmacoepidemiology and thalidomide embryopathy surveillance in Brazil.

Reprod Toxicol 2015 Jun 28;53:63-7. Epub 2015 Mar 28.

INAGEMP - Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil; Teratogen Information Service, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil; Genetics Department, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.reprotox.2015.03.007DOI Listing
June 2015

The role of β3 integrin gene variants in Autism Spectrum Disorders--diagnosis and symptomatology.

Gene 2014 Dec 30;553(1):24-30. Epub 2014 Sep 30.

Department of Genetics, Biosciences Institute, Federal University of Rio Grande do Sul, Avenida Bento Gonçalves, 9500, 91501-970 Porto Alegre, Brazil. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03781119140111
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http://dx.doi.org/10.1016/j.gene.2014.09.058DOI Listing
December 2014

Interaction between TP63 and MDM2 genes and the risk of recurrent pregnancy loss.

Eur J Obstet Gynecol Reprod Biol 2014 Nov 24;182:7-10. Epub 2014 Aug 24.

Post-Graduation Program in Genetics and Molecular Biology, Department of Genetics, Biosciences Institute, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 91501-970, Brazil; INAGEMP - Instituto Nacional de Genética Médica Populacional, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035-903, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.ejogrb.2014.07.044DOI Listing
November 2014

A DNA repair variant in POLQ (c.-1060A > G) is associated to hereditary breast cancer patients: a case-control study.

BMC Cancer 2014 Nov 19;14:850. Epub 2014 Nov 19.

Laboratory of Medical Genomics, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

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http://dx.doi.org/10.1186/1471-2407-14-850DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4246548PMC
November 2014

Spatial and temporal analysis of infant mortality from congenital malformations in Brazil (1996-2010).

J Community Genet 2014 Jul 1;5(3):269-82. Epub 2013 Oct 1.

Área de Genética Médica y Poblacional, Servicio de Neonatología, Hospital General de Agudos Dr. José María Ramos Mejía, Buenos Aires, Argentina, General Urquiza 609 (1332),

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http://dx.doi.org/10.1007/s12687-013-0170-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4059847PMC
July 2014

Lack of association between thrombophilic gene variants and recurrent pregnancy loss.

Hum Fertil (Camb) 2014 Jun 24;17(2):99-105. Epub 2014 Feb 24.

Department of Genetics, Postgraduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul (UFRGS) , Porto Alegre , Brazil.

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http://dx.doi.org/10.3109/14647273.2014.882022DOI Listing
June 2014

Health needs assessment for congenital anomalies in middle-income countries: Examining the case for neural tube defects in Brazil.

J Community Genet 2014 Apr 30;5(2):147-55. Epub 2013 Aug 30.

INAGEMP (Instituto Nacional de Genética Médica Populacional) at Teratogen Information Service, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil,

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http://dx.doi.org/10.1007/s12687-013-0165-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3955461PMC
April 2014

From rumors to genetic isolates.

Genet Mol Biol 2014 Mar;37(1 Suppl):186-93

Departamento de Genética, Instituto Nacional de Genética Médica Populacional, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil .

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983592PMC
March 2014

Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal.

Genet Mol Biol 2014 Mar;37(1 Suppl):263-70

Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul,Porto Alegre, RS, Brazil . ; Departamento de Medicina Interna, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil . ; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil . ; Instituto Nacional de Genética Médica Populacional, Porto Alegre, RS, Brazil .

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983584PMC
March 2014

Genetics and human rights. Two histories: Restoring genetic identity after forced disappearance and identity suppression in Argentina and after compulsory isolation for leprosy in Brazil.

Genet Mol Biol 2014 Mar;37(1 Suppl):299-304

Instituto Nacional de Ciencia e Tecnologia em Genetica Médica Populacional, Porto Alegre, RS, Brazil . ; Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil .

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983581PMC
March 2014

MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis.

Twin Res Hum Genet 2013 Dec 9;16(6):1112-6. Epub 2013 Oct 9.

Department of Orthodontics, School of Dentistry, Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.

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http://www.journals.cambridge.org/abstract_S1832427413000698
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http://dx.doi.org/10.1017/thg.2013.69DOI Listing
December 2013

Polymorphisms in the endothelial nitric oxide synthase gene in thalidomide embryopathy.

Nitric Oxide 2013 Nov 17;35:89-92. Epub 2013 Sep 17.

National Institute of Population Medical Genetics (INAGEMP), Porto Alegre, Brazil; National System for Information on Teratogenic Agents (SIAT), Medical Genetics Service at the Hospital de Clínicas in Porto Alegre, Brazil; Genetics Department, Rio Grande do Sul Federal University (UFRGS), Porto Alegre, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.niox.2013.09.002DOI Listing
November 2013

Maternal SNPs in the p53 pathway: risk factors for trisomy 21?

Dis Markers 2013 ;34(1):41-9

Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

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http://dx.doi.org/10.3233/DMA-2012-00937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809983PMC
May 2013

Maternal drinking behavior and Fetal Alcohol Spectrum Disorders in adolescents with criminal behavior in southern Brazil.

Genet Mol Biol 2012 Dec 18;35(4 (suppl)):960-5. Epub 2012 Dec 18.

Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. ; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS Brazil.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3571436PMC
December 2012

Twin Town in South Brazil: a Nazi's experiment or a genetic founder effect?

PLoS One 2011 8;6(6):e20328. Epub 2011 Jun 8.

Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0020328PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110757PMC
October 2011

Consistency of self-reported first-degree family history of cancer in a population-based study.

Fam Cancer 2009 20;8(3):195-202. Epub 2009 Jan 20.

Postgraduate Program in Medicine: Medical Sciences, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.

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http://dx.doi.org/10.1007/s10689-008-9228-2DOI Listing
January 2010

[Evaluation of the teratogenic risks in gestations exposed to misoprostol].

Rev Bras Ginecol Obstet 2010 Jan;32(1):19-35

Faculdade de Farmácia, Odontologia e Enfermagem, Universidade Federal do Ceará, Fortaleza, CE, Brasil.

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January 2010

Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects.

Am J Med Genet A 2009 Oct;149A(10):2080-7

Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.32989DOI Listing
October 2009

Dipyrone use during pregnancy and adverse perinatal events.

Arch Gynecol Obstet 2009 Mar 21;279(3):293-7. Epub 2008 Jun 21.

Departamento de Produção e Controle de Medicamentos, Faculdade de Farmácia, Universidade Federal do Rio Grande do Sul, Av. Ipiranga, 2752, CEP 90640-000 Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1007/s00404-008-0707-3DOI Listing
March 2009

Prenatal alcohol exposure as a risk factor for dysfunctional behaviors: the role of the pediatrician.

J Pediatr (Rio J) 2008 Aug 22;84(4 Suppl):S76-9. Epub 2008 Aug 22.

Programa de Pós-Graduação em Genética, Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.2223/JPED.1799DOI Listing
August 2008

Prospective evaluation of pregnant women vaccinated against rubella in southern Brazil.

Reprod Toxicol 2008 Jan 16;25(1):120-3. Epub 2007 Sep 16.

Genetics Department, Universidade Federal do Rio Grande do Sul, Brazil.

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http://dx.doi.org/10.1016/j.reprotox.2007.09.002DOI Listing
January 2008

New cases of thalidomide embryopathy in Brazil.

Birth Defects Res A Clin Mol Teratol 2007 Sep;79(9):671-2

Federal University of Rio Grande do Sul Genetics Department; Fundacao Faculdade Federal de Ciencias Medicas, Clinical Genetics Department, Porto Alegre, Brazil.

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http://dx.doi.org/10.1002/bdra.20384DOI Listing
September 2007

Clinical characterization and risk profile of individuals seeking genetic counseling for hereditary breast cancer in Brazil.

J Genet Couns 2007 Jun 23;16(3):363-71. Epub 2007 Feb 23.

Postgraduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.

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http://dx.doi.org/10.1007/s10897-006-9073-0DOI Listing
June 2007