Maria do Rosário Neto dos Santos
AuthID: R-00H-H5E
41
TITLE: Adipokine Gene Single-Nucleotide Polymorphisms in Portuguese Obese Adolescents: Associations with Plasma Concentrations of Adiponectin, Resistin, IL-6, IL-1, and TNF-
AUTHORS: Henrique Nascimento; Emilia Vieira; Susana Coimbra; Cristina Catarino ; Elisio Costa ; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Petronila Rocha Pereira; Marcia Carvalho; Helena Ferreira Mansilha; Carla Rego ; Rosario dos Santos; Alice Santos-Silva ; Luis Belo ;
PUBLISHED: 2016, SOURCE: CHILDHOOD OBESITY, VOLUME: 12, ISSUE: 4
AUTHORS: Henrique Nascimento; Emilia Vieira; Susana Coimbra; Cristina Catarino ; Elisio Costa ; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Petronila Rocha Pereira; Marcia Carvalho; Helena Ferreira Mansilha; Carla Rego ; Rosario dos Santos; Alice Santos-Silva ; Luis Belo ;
PUBLISHED: 2016, SOURCE: CHILDHOOD OBESITY, VOLUME: 12, ISSUE: 4
42
TITLE: The genetics of hereditary myopathies revisited by massive parallel sequencing Full Text
AUTHORS: Jorge Oliveira; Conceicai Egas; Jose C Machado ; Mario Sousa ; Rosario Santos;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
AUTHORS: Jorge Oliveira; Conceicai Egas; Jose C Machado ; Mario Sousa ; Rosario Santos;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
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ORCID43
TITLE: Mutation analysis in patients with total sperm immotility and dysplasia of the fibrous sheath Full Text
AUTHORS: Rute Pereira; Jorge Oliveira; Luis Ferraz; Alberto Barros; Rosario Santos; Mario Sousa ;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
AUTHORS: Rute Pereira; Jorge Oliveira; Luis Ferraz; Alberto Barros; Rosario Santos; Mario Sousa ;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
INDEXED IN: WOS
WOS IN MY: ORCID
ORCID44
TITLE: Origin of normal-size FMR1 alleles without AGG interspersions Full Text
AUTHORS: Nuno Maia; Joana Loureiro; Barbara Oliveira; Isabel Marques; Rosario Santos; Sandra Martins; Paula Jorge;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
AUTHORS: Nuno Maia; Joana Loureiro; Barbara Oliveira; Isabel Marques; Rosario Santos; Sandra Martins; Paula Jorge;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
INDEXED IN: WOS
WOS IN MY: ORCID
ORCID45
TITLE: Beta choline kinase deficiency: a rare cause of muscular dystrophy, cardiomyopathy and intellectual disability Full Text
AUTHORS: Jorge Oliveira; Luis Negrao; Isabel Fineza; Ricardo Taipa; Manuel Melo Pires; Ana Rita Goncalves; Emilia Vieira; Marcia E Oliveira; Ana Maria Fortuna; Mario Sousa; Rosario Santos;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
AUTHORS: Jorge Oliveira; Luis Negrao; Isabel Fineza; Ricardo Taipa; Manuel Melo Pires; Ana Rita Goncalves; Emilia Vieira; Marcia E Oliveira; Ana Maria Fortuna; Mario Sousa; Rosario Santos;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
INDEXED IN: WOS
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ORCID46
TITLE: Screening for MED12 variants in Opitz-Kaveggia and Lujan-Fryns syndromes Full Text
AUTHORS: Cathy Paulino; Isabel Marques; Raquel Chaves; Paula Jorge; Rosario Santos;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
AUTHORS: Cathy Paulino; Isabel Marques; Raquel Chaves; Paula Jorge; Rosario Santos;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
INDEXED IN: WOS
WOS IN MY: ORCID
ORCID47
TITLE: FMR1 gene-zygosity discrimination: the use of hrMCA in female samples Full Text
AUTHORS: Stephanie Salgado; Nuno Maia; Eduardo Cruz; Isabel Marques; Rosario Santos; Paula Jorge;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
AUTHORS: Stephanie Salgado; Nuno Maia; Eduardo Cruz; Isabel Marques; Rosario Santos; Paula Jorge;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
INDEXED IN: WOS
WOS IN MY: ORCID
ORCID48
TITLE: The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations Full Text
AUTHORS: Catherine L Bladen; David Salgado; Soledad Monges; Maria E Foncuberta; Kyriaki Kekou; Konstantina Kosma; Hugh Dawkins; Leanne Lamont; Anna J Roy; Teodora Chamova; Velina Guergueltcheva; Sophelia Chan; Lawrence Korngut; Craig Campbell; Yi Dai; Jen Wang; Nina Barisic; Petr Brabec; Jaana Lahdetie; Maggie C Walter; ...More
PUBLISHED: 2015, SOURCE: HUMAN MUTATION, VOLUME: 36, ISSUE: 4
AUTHORS: Catherine L Bladen; David Salgado; Soledad Monges; Maria E Foncuberta; Kyriaki Kekou; Konstantina Kosma; Hugh Dawkins; Leanne Lamont; Anna J Roy; Teodora Chamova; Velina Guergueltcheva; Sophelia Chan; Lawrence Korngut; Craig Campbell; Yi Dai; Jen Wang; Nina Barisic; Petr Brabec; Jaana Lahdetie; Maggie C Walter; ...More
PUBLISHED: 2015, SOURCE: HUMAN MUTATION, VOLUME: 36, ISSUE: 4
49
TITLE: Mutation analysis in patients with total sperm immotility Full Text
AUTHORS: Pereira R. ; Oliveira, J; Ferraz, L; Barros, A ; Santos, R; Sousa, M ;
PUBLISHED: 2015, SOURCE: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, VOLUME: 32, ISSUE: 6
AUTHORS: Pereira R. ; Oliveira, J; Ferraz, L; Barros, A ; Santos, R; Sousa, M ;
PUBLISHED: 2015, SOURCE: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, VOLUME: 32, ISSUE: 6
50
TITLE: New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing
AUTHORS: Jorge Oliveira; Luis Negrao; Isabel Fineza; Ricardo Taipa; Manuel Melo Pires; Ana Maria Fortuna; Ana Rita Goncalves ; Hugo Froufe; Conceicao Egas; Rosario Santos; Mario Sousa ;
PUBLISHED: 2015, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 60, ISSUE: 6
AUTHORS: Jorge Oliveira; Luis Negrao; Isabel Fineza; Ricardo Taipa; Manuel Melo Pires; Ana Maria Fortuna; Ana Rita Goncalves ; Hugo Froufe; Conceicao Egas; Rosario Santos; Mario Sousa ;
PUBLISHED: 2015, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 60, ISSUE: 6
