Publications by authors named "Rosario Santos"

55Publications

Two Compound Heterozygous Variants in Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20.

Front Genet 2020 24;11:1038. Epub 2020 Sep 24.

Unidade de Genética Molecular, Centro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUP), Porto, Portugal.

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http://dx.doi.org/10.3389/fgene.2020.01038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7543990PMC
September 2020

EMQN best practice guidelines for genetic testing in dystrophinopathies.

Eur J Hum Genet 2020 Sep 18;28(9):1141-1159. Epub 2020 May 18.

Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.

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http://dx.doi.org/10.1038/s41431-020-0643-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608854PMC
September 2020

Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough.

Adv Med Sci 2020 Mar 10;65(1):1-11. Epub 2019 Dec 10.

Institute of Biomedical Sciences Abel Salazar, University of Porto, Porto, Portugal; Multidisciplinary Unit for Biomedical Research, Institute of Biomedical Sciences Abel Salazar, University of Porto, Porto, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.advms.2019.10.003DOI Listing
March 2020

Clinical and Genetic Analysis of Children with Kartagener Syndrome.

Cells 2019 08 15;8(8). Epub 2019 Aug 15.

Laboratory of Cell Biology, Department of Microscopy, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto (UP), Rua Jorge Viterbo Ferreira, 228, 4050-313 Porto, Portugal.

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http://dx.doi.org/10.3390/cells8080900DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6721662PMC
August 2019

Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the p.Glu545Val variant.

Amyloid 2019;26(sup1):144-145

d Unit for Multidisciplinary Research in Biomedicine (UMIB), Instituto de Ciências Biomédicas Abel Salazar, University of Porto , Porto , Portugal.

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http://dx.doi.org/10.1080/13506129.2019.1582500DOI Listing
January 2020

Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.

BMC Med Genet 2018 05 10;19(1):74. Epub 2018 May 10.

Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto - UMIB-ICBAS-UP, Porto, Portugal.

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http://dx.doi.org/10.1186/s12881-018-0589-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946481PMC
May 2018

Two Novel Pathogenic Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.

Mol Syndromol 2017 Dec 29;9(1):45-51. Epub 2017 Aug 29.

Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGMJM), Centro Hospitalar do Porto, EPE, Porto, Portugal.

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http://dx.doi.org/10.1159/000479177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803688PMC
December 2017

Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene.

Genes (Basel) 2017 Oct 3;8(10). Epub 2017 Oct 3.

Unidade de Genética Molecular, Centro de Genética Médica Dr. Jacinto Magalhães, Centro Hospitalar do Porto, 4050-106 Porto, Portugal.

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http://dx.doi.org/10.3390/genes8100253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664103PMC
October 2017

RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.

J Neuromuscul Dis 2017 ;4(1):67-76

Neuromuscular Disorders Outpatient Clinic and Department of Neuropaediatrics, Centro Hospitalar do Porto, Porto, Portugal.

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http://dx.doi.org/10.3233/JND-160199DOI Listing
March 2018

Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?

J Hum Genet 2017 Feb 27;62(2):269-275. Epub 2016 Oct 27.

i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1038/jhg.2016.122DOI Listing
February 2017

New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.

J Hum Genet 2016 Jun 4;61(6):497-505. Epub 2016 Feb 4.

Unidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1038/jhg.2016.2DOI Listing
June 2016

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.

Mol Genet Genomic Med 2015 May 25;3(3):203-14. Epub 2015 Feb 25.

Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar do Porto, EPE Porto, Portugal ; Unit for Multidisciplinary Research in Biomedicine, UMIB, ICBAS-UP Porto, Portugal.

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http://dx.doi.org/10.1002/mgg3.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444162PMC
May 2015

Mutation analysis in patients with total sperm immotility.

J Assist Reprod Genet 2015 Jun 16;32(6):893-902. Epub 2015 Apr 16.

Laboratory of Cell Biology, Department of Microscopy, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto (UP), Rua Jorge Viterbo Ferreira, 228, 4050-313, Porto, Portugal.

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http://dx.doi.org/10.1007/s10815-015-0474-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491072PMC
June 2015

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.

J Hum Genet 2015 Jun 5;60(6):305-12. Epub 2015 Mar 5.

1] Departamento de Microscopia, Laboratório de Biologia Celular, Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal [2] Unidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal [3] Centro de Genética da Reprodução Professor Alberto Barros, Porto, Portugal.

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http://dx.doi.org/10.1038/jhg.2015.20DOI Listing
June 2015

New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.

J Hum Genet 2014 Aug 10;59(8):454-64. Epub 2014 Jul 10.

1] Departamento de Ciências Biológicas, Laboratório de Bioquímica, Faculdade de Farmácia, Universidade do Porto, Porto, Portugal [2] Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1038/jhg.2014.54DOI Listing
August 2014

Ryanodine myopathies without central cores--clinical, histopathologic, and genetic description of three cases.

Pediatr Neurol 2014 Aug 28;51(2):275-8. Epub 2014 Apr 28.

Neuromuscular Diseases Unit, Department of Pediatric Neurology, Centro Hospitalar do Porto, Porto, Portugal.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.04.024DOI Listing
August 2014

Atypical phenotype in two patients with LAMA2 mutations.

Neuromuscul Disord 2014 May 25;24(5):419-24. Epub 2014 Jan 25.

Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal; Laboratório de Neuropatologia, Serviço de Neurologia, Hospital de Santa Maria, CHLN, Av. Professor Egas Moniz, 1649-035 Lisboa, Portugal.

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http://dx.doi.org/10.1016/j.nmd.2014.01.004DOI Listing
May 2014

Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients.

J Neuromuscul Dis 2014;1(2):169-179

Departamento de Microscopia, Laboratório de Biologia Celular, Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal.

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January 2014

A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis.

J Clin Med 2014 Jul 24;3(3):838-48. Epub 2014 Jul 24.

Center of Medical Genetics Doutor Jacinto Magalhães, Oporto Hospital Center, C.H.P., EPE, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal.

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http://dx.doi.org/10.3390/jcm3030838DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449647PMC
July 2014

Variobox: automatic detection and annotation of human genetic variants.

Hum Mutat 2014 Feb 21;35(2):202-7. Epub 2013 Nov 21.

DETI/IEETA, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal.

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http://dx.doi.org/10.1002/humu.22474DOI Listing
February 2014

Development and validation of a multiplex-PCR assay for X-linked intellectual disability.

BMC Med Genet 2013 Aug 5;14:80. Epub 2013 Aug 5.

Centro de Genética Médica Dr, Jacinto Magalhães, CHP, Praça Pedro Nunes 88, 4099-028, Porto, Portugal.

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http://dx.doi.org/10.1186/1471-2350-14-80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751858PMC
August 2013

A family with 2 different hereditary diseases leading to early cardiac involvement.

J Clin Neuromuscul Dis 2013 Jun;14(4):204-8

Department of Neurology, Hospital de Faro, Faro, Portugal, UK.

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http://dx.doi.org/10.1097/CND.0b013e31829082c3DOI Listing
June 2013

Bilirubin levels and redox status in a young healthy population.

Acta Haematol 2013 6;130(1):57-60. Epub 2013 Mar 6.

Laboratório de Bioquímica, Departamento de Ciências Biológicas, Faculdade de Farmácia, Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1159/000346429DOI Listing
September 2013

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.

Eur J Hum Genet 2013 May 12;21(5):540-9. Epub 2012 Sep 12.

Unidade de Investigação e Desenvolvimento, Departamento de Genética, Centro de Genética Médica Dr Jacinto Magalhães, Instituto Nacional de Saúde Dr Ricardo Jorge, IP, Porto, Portugal.

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http://www.nature.com/articles/ejhg2012201
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http://dx.doi.org/10.1038/ejhg.2012.201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641378PMC
May 2013

Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects.

Blood Cells Mol Dis 2012 Mar 9;48(3):166-72. Epub 2012 Feb 9.

Departamento de Ciências Biológicas, Laboratório de Bioquímica, Faculdade de Farmácia da Universidade do Porto, Portugal.

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http://dx.doi.org/10.1016/j.bcmd.2012.01.004DOI Listing
March 2012

Bilirubin dependence on UGT1A1 polymorphisms, hemoglobin, fasting time and body mass index.

Am J Med Sci 2012 Feb;343(2):114-118

Department of Biological Sciences, Biochemistry Laboratory, Faculty of Pharmacy of Oporto University, Porto; Institute for Cellular and Molecular Biology, Oporto University, Porto, Portugal. Electronic address:

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http://dx.doi.org/10.1097/MAJ.0b013e318223460fDOI Listing
February 2012

Statistical approach to prenatal zygosity assessment following a decade of molecular aneuploidy screening.

Twin Res Hum Genet 2011 Jun;14(3):221-7

Centre for Medical Genetics Doutor Jacinto Magalhães, National Health Institute Doutor Ricardo Jorge, Porto, Portugal.

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http://dx.doi.org/10.1375/twin.14.3.221DOI Listing
June 2011

Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America.

Neuromuscul Disord 2011 May 9;21(5):328-37. Epub 2011 Mar 9.

Clinical Unit, Department of Genetics, Faculty of Medicine, University of the Republic, Av. Gral. Flores 2125, Montevideo CP 11800, Uruguay.

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http://dx.doi.org/10.1016/j.nmd.2011.02.003DOI Listing
May 2011

New approaches in molecular diagnosis and population carrier screening for spinal muscular atrophy.

Genet Test Mol Biomarkers 2011 May 17;15(5):319-26. Epub 2011 Feb 17.

Unidade de Genética Médica, Centro de Genética Médica, Dr. Jacinto de Magalhães, INSA-IP, Praça Pedro Nunes 88, Porto, Portugal.

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http://dx.doi.org/10.1089/gtmb.2010.0164DOI Listing
May 2011

Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome.

Hum Mutat 2010 Nov;31(11):1216-22

Unidade de Genética Molecular, Centro de Genética Médica Dr. Jacinto Magalhães, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto, Portugal.

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http://dx.doi.org/10.1002/humu.21352DOI Listing
November 2010

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.

J Hum Genet 2010 Aug 10;55(8):546-9. Epub 2010 Jun 10.

Unidade de Genética Molecular, Centro de Genética Médica Jacinto Magalhães, Instituto Nacional de Saúde Ricardo Jorge, Porto, Portugal.

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http://www.nature.com/articles/jhg201060
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http://dx.doi.org/10.1038/jhg.2010.60DOI Listing
August 2010

Planning the human variome project: the Spain report.

Authors:
Jim Kaput Richard G H Cotton Lauren Hardman Michael Watson Aida I Al Aqeel Jumana Y Al-Aama Fahd Al-Mulla Santos Alonso Stefan Aretz Arleen D Auerbach Bharati Bapat Inge T Bernstein Jong Bhak Stacey L Bleoo Helmut Blöcker Steven E Brenner John Burn Mariona Bustamante Rita Calzone Anne Cambon-Thomsen Michele Cargill Paola Carrera Lawrence Cavedon Yoon Shin Cho Yeun-Jun Chung Mireille Claustres Garry Cutting Raymond Dalgleish Johan T den Dunnen Carlos Díaz Steven Dobrowolski M Rosário N dos Santos Rosemary Ekong Simon B Flanagan Paul Flicek Yoichi Furukawa Maurizio Genuardi Ho Ghang Maria V Golubenko Marc S Greenblatt Ada Hamosh John M Hancock Ross Hardison Terence M Harrison Robert Hoffmann Rania Horaitis Heather J Howard Carol Isaacson Barash Neskuts Izagirre Jongsun Jung Toshio Kojima Sandrine Laradi Yeon-Su Lee Jong-Young Lee Vera L Gil-da-Silva-Lopes Finlay A Macrae Donna Maglott Makia J Marafie Steven G E Marsh Yoichi Matsubara Ludwine M Messiaen Gabriela Möslein Mihai G Netea Melissa L Norton Peter J Oefner William S Oetting James C O'Leary Ana Maria Oller de Ramirez Mark H Paalman Jillian Parboosingh George P Patrinos Giuditta Perozzi Ian R Phillips Sue Povey Suyash Prasad Ming Qi David J Quin Rajkumar S Ramesar C Sue Richards Judith Savige Dagmar G Scheible Rodney J Scott Daniela Seminara Elizabeth A Shephard Rolf H Sijmons Timothy D Smith María-Jesús Sobrido Toshihiro Tanaka Sean V Tavtigian Graham R Taylor Jon Teague Thoralf Töpel Mollie Ullman-Cullere Joji Utsunomiya Henk J van Kranen Mauno Vihinen Elizabeth Webb Thomas K Weber Meredith Yeager Young I Yeom Seon-Hee Yim Hyang-Sook Yoo

Hum Mutat 2009 Apr;30(4):496-510

Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

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http://compbio.berkeley.edu/people/brenner/pubs/kaput-2009-h
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http://doi.wiley.com/10.1002/humu.20972
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http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 2009

Gene symbol: UGT1A1. Disease: Crigler-Najjar syndrome 1.

Hum Genet 2008 Oct;124(3):301

Instituto Politécnico de Bragança, Escola Superior de Saúde, Dr. António Bernardino de Almeida, NA, 4200-072 Porto, Bragança, Portugal.

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October 2008

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

J Hum Genet 2008 11;53(6):565-572. Epub 2008 Mar 11.

Unidade de Genética Molecular, Centro de Genética Médica Dr. Jacinto Magalhães, INSA, Porto, Portugal.

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http://dx.doi.org/10.1007/s10038-008-0263-5DOI Listing
August 2008

Hematologically important mutations: Shwachman-Diamond syndrome.

Blood Cells Mol Dis 2008 Mar-Apr;40(2):183-4. Epub 2007 Oct 4.

Escola Superior de Saúde, Instituto Politécnico de Bragança, Avenida D. Afonso V, 5300-121 Bragança, Portugal.

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http://dx.doi.org/10.1016/j.bcmd.2007.07.008DOI Listing
May 2008

Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome.

Blood Cells Mol Dis 2007 Jul-Aug;39(1):96-101. Epub 2007 Mar 21.

Escola Superior de Saúde, Instituto Politécnico de Bragança, Bragança, Portugal.

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http://dx.doi.org/10.1016/j.bcmd.2007.02.002DOI Listing
September 2007

Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes.

Blood Cells Mol Dis 2006 Jan-Feb;36(1):91-7. Epub 2005 Nov 2.

Escola Superior de Saúde, Instituto Politécnico de Bragança, Avenida D. Afonso V, 5300-121 Bragança, Portugal.

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http://dx.doi.org/10.1016/j.bcmd.2005.09.002DOI Listing
May 2006

Molecular characterization of a Portuguese patient with Shwachman-Diamond syndrome.

J Pediatr Gastroenterol Nutr 2005 Jul;41(1):115-6

Serviço de Pediatria, Hospital Central Especializado de Crianças Maria Pia, Porto, Portugal.

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http://dx.doi.org/10.1097/01.mpg.0000155184.61625.fcDOI Listing
July 2005

Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism.

Eur J Endocrinol 2005 Feb;152(2):193-8

Unidade de Genética Molecular, Instituto de Genética Médica Jacinto Magalhães, Prãa Pedro Nunes 88, 4099-028 Porto, Portugal.

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http://dx.doi.org/10.1530/eje.1.01826DOI Listing
February 2005

A new case of (TA)8 allele in the UGT1A1 gene promoter in a Caucasian girl with Gilbert syndrome.

Pediatr Hematol Oncol 2004 Jul-Aug;21(5):371-4

Serviço de Hematologia, Hospital de Crianças Maria Pia, Porto, Portugal.

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http://www.tandfonline.com/doi/full/10.1080/0888001049045703
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http://dx.doi.org/10.1080/08880010490457033DOI Listing
January 2005

[Glucose-6-phosphate dehydrogenase deficiency, neonatal hyperbilirubinemia and Gilbert syndrome].

Acta Med Port 2002 Nov-Dec;15(6):409-12

Serviço de Hematologia, Hospital Maria Pia, Serviços de Hematologia Clínica e Pediátrica, Hospital Geral de Santo António, Unidade de Genética Molecular, Instituto de Genética Doutor Jacinto de Magalhães, Porto.

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May 2003

TATA-Box polymorphism in the uridine diphosphate glucuronosyl transferase gene in Portuguese patients with clinical diagnosis of Gilbert Syndrome.

Haematologica 2002 Apr;87(4):ELT21

Serviço de Hematologia, Hospital de Crianças Maria Pia, Rua da Boavista, 827, 4050-111 Porto, Portugal.

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April 2002