Publications by authors named "Filipa Carvalho"

64Publications

Two Sides of Child Maltreatment: from Psychopathic Traits to Altruistic Attitudes Inhibition.

J Child Adolesc Trauma 2020 Jun 3;13(2):199-206. Epub 2019 Aug 3.

William James Center for Research, ISPA-Instituto Universitário, Lisbon, Portugal.

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http://dx.doi.org/10.1007/s40653-019-00280-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7289941PMC
June 2020

Early Gestational Diagnosis of Lethal Skeletal Dysplasias: A 15 Year Retrospective Cohort Reviewing Concordance between Ultrasonographic, Genetic and Morphological Features.

Fetal Pediatr Pathol 2020 May 13:1-12. Epub 2020 May 13.

Department of Obstetrics, Gynecology and Pediatrics Faculty of Medicine University of Porto, Portugal.

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http://dx.doi.org/10.1080/15513815.2020.1761915DOI Listing
May 2020

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene.

Exp Clin Endocrinol Diabetes 2020 Mar 4. Epub 2020 Mar 4.

Genetics, Department of Pathology, Faculty of Medicine, University of Porto, Porto, Portugal.

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http://dx.doi.org/10.1055/a-1108-1419DOI Listing
March 2020

Preimplantation genetic testing for Huntington disease: the perspective of one Portuguese center.

Porto Biomed J 2019 Sep-Oct;4(5):e48. Epub 2019 Sep 4.

Serviço de Genética, Departamento de Patologia, Faculdade de Medicina, University of Porto.

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http://dx.doi.org/10.1097/j.pbj.0000000000000048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6924977PMC
September 2019

A Systematic Pan-Cancer Analysis of Genetic Heterogeneity Reveals Associations with Epigenetic Modifiers.

Cancers (Basel) 2019 Mar 20;11(3). Epub 2019 Mar 20.

Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina da Universidade de Lisboa, 1649-028 Lisboa, Portugal.

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http://dx.doi.org/10.3390/cancers11030391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6468518PMC
March 2019

Toxicity of lupane derivatives on anionic membrane models, isolated rat mitochondria and selected human cell lines: Role of terminal alkyl chains.

Chem Biol Interact 2018 Dec 4;296:198-210. Epub 2018 Oct 4.

CNC - Center for Neuroscience and Cell Biology, University of Coimbra, UC Biotech, Biocant Park, Cantanhede, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.cbi.2018.10.002DOI Listing
December 2018

Clinical outcomes after preimplantation genetic diagnosis of patients with Corino de Andrade disease (familial amyloid polyneuropathy).

Reprod Biomed Online 2018 Jan 12;36(1):39-46. Epub 2017 Oct 12.

Centre for Reproductive Genetics A. Barros (CGR), Porto, Portugal; Department of Genetics, Faculty of Medicine, Institute of Health Research and Innovation (I3S), University of Porto, Porto, Portugal.

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http://dx.doi.org/10.1016/j.rbmo.2017.09.010DOI Listing
January 2018

Altered mitochondrial epigenetics associated with subchronic doxorubicin cardiotoxicity.

Toxicology 2017 09 1;390:63-73. Epub 2017 Sep 1.

CNC-Center for Neuroscience and Cell Biology, University of Coimbra, UC Biotech Building, Biocant Park, 3060-197 Cantanhede, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.tox.2017.08.011DOI Listing
September 2017

Cardiac cytochrome c and cardiolipin depletion during anthracycline-induced chronic depression of mitochondrial function.

Mitochondrion 2016 09 14;30:95-104. Epub 2016 Jul 14.

CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Biocant Park, 3060-197 Cantanhede, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2016.07.005DOI Listing
September 2016

[Anomalous origin of the left coronary artery from the pulmonar artery: a sudden death in the young].

Rev Port Cir Cardiotorac Vasc 2015 Oct-Dec;22(4):215-217

Serviço de Anestesiologia, Centro Hospitalar de Vila Nova de Gaia e Espinho, Portugal.

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October 2015

Demonstration of glucose-6-phosphate hydrogen 5 enrichment from deuterated water by transaldolase-mediated exchange alone.

Magn Reson Med 2016 Apr 20;75(4):1781-6. Epub 2015 May 20.

Center for Neurosciences and Cell Biology, University of Coimbra, Portugal.

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http://dx.doi.org/10.1002/mrm.25749DOI Listing
April 2016

The mutational spectrum of WT1 in male infertility.

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

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

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

A high-fat diet suppresses de novo lipogenesis and desaturation but not elongation and triglyceride synthesis in mice.

J Lipid Res 2014 Dec 30;55(12):2541-53. Epub 2014 Sep 30.

Advanced Imaging Research Center-Division of Metabolic Mechanisms of Disease, The University of Texas Southwestern Medical Center, Dallas, TX Department of Pharmacology, The University of Texas Southwestern Medical Center, Dallas, TX.

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http://dx.doi.org/10.1194/jlr.M052308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4242447PMC
December 2014

New derivatives of lupane triterpenoids disturb breast cancer mitochondria and induce cell death.

Bioorg Med Chem 2014 Nov 6;22(21):6270-87. Epub 2014 Sep 6.

CNC, Center for Neuroscience and Cellular Biology, Department of Life Sciences, University of Coimbra, Largo Marquês de Pombal, 3004-517 Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.bmc.2014.08.013DOI Listing
November 2014

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

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

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

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

Noninvasive measurement of murine hepatic acetyl-CoA ¹³C-enrichment following overnight feeding with ¹³C-enriched fructose and glucose.

Biomed Res Int 2013 10;2013:638085. Epub 2013 Jun 10.

Center for Neurosciences and Cell Biology, Department of Zoology, University of Coimbra, Coimbra 3004-517, Portugal.

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http://www.hindawi.com/journals/bmri/2013/638085/
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http://dx.doi.org/10.1155/2013/638085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3691893PMC
December 2013

Dioxin-induced acute cardiac mitochondrial oxidative damage and increased activity of ATP-sensitive potassium channels in Wistar rats.

Environ Pollut 2013 Sep 21;180:281-90. Epub 2013 Jun 21.

CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Largo Marquês de Pombal, 3004-517 Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.envpol.2013.05.049DOI Listing
September 2013

Expression of stem cell markers: OCT4, KIT, ITGA6, and ITGB1 in the male germinal epithelium.

Syst Biol Reprod Med 2013 Oct 13;59(5):233-43. Epub 2013 Jun 13.

Department of Microscopy, Laboratory of Cell Biology, Biomedical Research Multidisciplinary Unit (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS) , University of Porto.

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http://dx.doi.org/10.3109/19396368.2013.804964DOI Listing
October 2013

Doxorubicin-induced cardiotoxicity: from bioenergetic failure and cell death to cardiomyopathy.

Med Res Rev 2014 Jan 11;34(1):106-35. Epub 2013 Mar 11.

CNC-Center for Neuroscience and Cell Biology, University of Coimbra, 3004-517 Coimbra, Portugal; Department of Life Sciences, University of Coimbra, 3004-517 Coimbra, Portugal.

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http://dx.doi.org/10.1002/med.21280DOI Listing
January 2014

²H enrichment distribution of hepatic glycogen from ²H₂O reveals the contribution of dietary fructose to glycogen synthesis.

Am J Physiol Endocrinol Metab 2013 Feb 4;304(4):E384-91. Epub 2012 Dec 4.

Intermediary Metabolism Group, Center for Neurosciences and Cell Biology of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1152/ajpendo.00185.2012DOI Listing
February 2013

Edelfosine and perifosine disrupt hepatic mitochondrial oxidative phosphorylation and induce the permeability transition.

Mitochondrion 2013 Jan 16;13(1):25-35. Epub 2012 Nov 16.

CNC - Center for Neuroscience and Cell Biology, Department of Life Sciences, University of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.mito.2012.11.003DOI Listing
January 2013

Genetic regulation on ex vivo differentiated natural killer cells from human umbilical cord blood CD34+ cells.

J Recept Signal Transduct Res 2012 Oct 4;32(5):238-49. Epub 2012 Jul 4.

Department of Genetics, Faculty of Medicine, University of Porto, Portugal.

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http://dx.doi.org/10.3109/10799893.2012.700716DOI Listing
October 2012

Quantitative analysis of cellular proliferation and differentiation of the human seminiferous epithelium in vitro.

Reprod Sci 2012 Oct 27;19(10):1063-74. Epub 2012 Apr 27.

Department of Microscopy, Laboratory of Cell Biology, UMIB, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, Porto, Portugal.

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http://dx.doi.org/10.1177/1933719112440746DOI Listing
October 2012

DNA methylation imprinting marks and DNA methyltransferase expression in human spermatogenic cell stages.

Epigenetics 2011 Nov 1;6(11):1354-61. Epub 2011 Nov 1.

Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.

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http://dx.doi.org/10.4161/epi.6.11.17993DOI Listing
November 2011

Drug-induced cardiac mitochondrial toxicity and protection: from doxorubicin to carvedilol.

Curr Pharm Des 2011 ;17(20):2113-29

Center for Neuroscience and Cell Biology, Department of Life Sciences, University of Coimbra, Portugal.

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http://dx.doi.org/10.2174/138161211796904812DOI Listing
February 2012

Lipophilic caffeic and ferulic acid derivatives presenting cytotoxicity against human breast cancer cells.

Chem Res Toxicol 2011 May 28;24(5):763-74. Epub 2011 Apr 28.

CNC, Centre for Neuroscience and Cellular Biology, University of Coimbra, Portugal.

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http://dx.doi.org/10.1021/tx200126rDOI Listing
May 2011

Aneuploidies detection in miscarriages and fetal deaths using multiplex ligation-dependent probe amplification: an alternative for speeding up results?

Eur J Obstet Gynecol Reprod Biol 2010 Dec 1;153(2):151-5. Epub 2010 Aug 1.

Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.

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http://dx.doi.org/10.1016/j.ejogrb.2010.06.022DOI Listing
December 2010

Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses.

J Assist Reprod Genet 2010 Nov 31;27(11):657-62. Epub 2010 Jul 31.

Department of Genetics, Faculty of Medicine, University of Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal.

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http://dx.doi.org/10.1007/s10815-010-9460-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995436PMC
November 2010

Gene expression pattern of IGF2, PHLDA2, PEG10 and CDKN1C imprinted genes in spontaneous miscarriages or fetal deaths.

Epigenetics 2010 Jul 1;5(5):444-50. Epub 2010 Jul 1.

Department of Genetics, Faculty of Medicine, University of Porto, Portugal.

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http://dx.doi.org/10.4161/epi.5.5.12118DOI Listing
July 2010

Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.

Fertil Steril 2010 Nov 25;94(6):2122-7. Epub 2010 Jan 25.

Department of Medicine and Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S001502820904129
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http://dx.doi.org/10.1016/j.fertnstert.2009.11.044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3767313PMC
November 2010

An efficient protocol for the detection of chromosomal abnormalities in spontaneous miscarriages or foetal deaths.

Eur J Obstet Gynecol Reprod Biol 2009 Dec 8;147(2):144-50. Epub 2009 Sep 8.

Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.

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http://dx.doi.org/10.1016/j.ejogrb.2009.07.023DOI Listing
December 2009

Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.

Hum Genet 2009 Aug;126(2):352

Genética, Faculdade de Medicina, Universidade do Porto, Alameda Hernãni Monteiro, FMUP, Porto, Portugal.

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https://www.researchgate.net/profile/Paulo_Fontoura/publicat
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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3180462/
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August 2009

Phenotypic expression in the first case of complete trisomy 12: combination of prenatal ultrasound and necropsic examination.

Fetal Diagn Ther 2009 3;25(2):234-8. Epub 2009 Jun 3.

Prenatal Diagnosis Unit, Ultrasound Unit - Obstetrics and Gynecology Service, Genetic Laboratory, Pathology Department, University Hospital of S. João, Faculty of Medicine of Porto, Porto, Portugal.

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http://dx.doi.org/10.1159/000222666DOI Listing
November 2009

Methylation defects of imprinted genes in human testicular spermatozoa.

Fertil Steril 2010 Jul 1;94(2):585-94. Epub 2009 Apr 1.

Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.

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http://dx.doi.org/10.1016/j.fertnstert.2009.02.051DOI Listing
July 2010

Investigating drug-induced mitochondrial toxicity: a biosensor to increase drug safety?

Curr Drug Saf 2009 Jan;4(1):34-54

Center for Neurosciences and Cell Biology, Department of Zoology, University of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.2174/157488609787354440DOI Listing
January 2009

Molecular and functional characterization of CBAVD-causing mutations located in CFTR nucleotide-binding domains.

Cell Physiol Biochem 2008 25;22(1-4):79-92. Epub 2008 Jul 25.

Department of Genetics, Faculty of Medicine, University of Porto, Portugal.

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http://dx.doi.org/10.1159/000149785DOI Listing
November 2008

Cytological and expression studies and quantitative analysis of the temporal and stage-specific effects of follicle-stimulating hormone and testosterone during cocultures of the normal human seminiferous epithelium.

Biol Reprod 2008 Nov 30;79(5):962-75. Epub 2008 Jul 30.

Laboratories of Cell Biology and Cytogenetics, Institute of Biomedical Sciences Abel Salazar (ICBAS), and Department of Genetics, Faculty of Medicine, University of Porto, Porto 4099-003, Portugal.

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http://dx.doi.org/10.1095/biolreprod.107.067546DOI Listing
November 2008

Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2.

Mol Biol Evol 2007 Feb 29;24(2):587-98. Epub 2006 Nov 29.

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

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https://academic.oup.com/mbe/article-lookup/doi/10.1093/molb
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http://dx.doi.org/10.1093/molbev/msl187DOI Listing
February 2007

Isolation and detection of ingested DNA from the immature stages of Calliphora dubia (diptera: Calliphoridae) : A forensically important blowfly.

Forensic Sci Med Pathol 2005 Dec;1(4):261-5

Centre for Forensic Science, University of Western Australia, 35 Stirling Hwy, 6009, Nedlands, Australia.

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http://dx.doi.org/10.1385/FSMP:1:4:261DOI Listing
December 2005

A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens.

Fertil Steril 2005 Feb;83(2):448-51

Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.

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http://dx.doi.org/10.1016/j.fertnstert.2004.07.967DOI Listing
February 2005

Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens.

Hum Reprod 2004 Nov 27;19(11):2502-8. Epub 2004 Aug 27.

Department of Genetics, Faculty of Medicine, Laboratory of Cell Biology, ICBAS, University of Porto, Centre for Reproductive Genetics Alberto Barros, Porto, Portugal.

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http://dx.doi.org/10.1093/humrep/deh462DOI Listing
November 2004

Genomic imprinting in disruptive spermatogenesis.

Lancet 2004 May;363(9422):1700-2

Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.

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http://dx.doi.org/10.1016/S0140-6736(04)16256-9DOI Listing
May 2004

Predisposition to abacavir hypersensitivity conferred by HLA-B*5701 and a haplotypic Hsp70-Hom variant.

Proc Natl Acad Sci U S A 2004 Mar 15;101(12):4180-5. Epub 2004 Mar 15.

Centre for Clinical Immunology and Biomedical Statistics, Murdoch University, Second Floor, North Block, Royal Perth Hospital, Perth 6000, Australia.

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http://dx.doi.org/10.1073/pnas.0307067101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC384715PMC
March 2004

Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies.

Eur J Hum Genet 2002 Aug;10(8):467-74

Department of Medical Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.

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http://www.nature.com/articles/5200835
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http://dx.doi.org/10.1038/sj.ejhg.5200835DOI Listing
August 2002