Jorge Manuel Tavares Lopes de Andrade Saraiva
AuthID: R-000-KA9
11
TITLE: Interstitial triplication 20p11.22p11.21, in a girl with development delay and vertebral anomalies, disclosed by array-CGH Full Text
AUTHORS: Eunice Matoso; Lina Ramos; Jorge Saraiva; Alexandra Estevinho; Susana I Ferreira; Joana B Melo; Isabel M Carreira;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Eunice Matoso; Lina Ramos; Jorge Saraiva; Alexandra Estevinho; Susana I Ferreira; Joana B Melo; Isabel M Carreira;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: 
WOS
WOS12
TITLE: Non-invasive allele-specific silencing therapy and biomarkers for Machado-Joseph disease
AUTHORS: Nobre, RJ; Saraiva, J; Fusco, C; Paixao, S; Santana, M; Petrella, L; Sereno, J; Castelhano, J; Castelo Branco, M; Sena Esteves, M; Pereira de Almeida, LP;
PUBLISHED: 2018, SOURCE: Conference on Changing the Face of Modern Medicine - Stem Cell and Gene Therapy in HUMAN GENE THERAPY, VOLUME: 29, ISSUE: 12
AUTHORS: Nobre, RJ; Saraiva, J; Fusco, C; Paixao, S; Santana, M; Petrella, L; Sereno, J; Castelhano, J; Castelo Branco, M; Sena Esteves, M; Pereira de Almeida, LP;
PUBLISHED: 2018, SOURCE: Conference on Changing the Face of Modern Medicine - Stem Cell and Gene Therapy in HUMAN GENE THERAPY, VOLUME: 29, ISSUE: 12
INDEXED IN: WOS
WOS13
TITLE: Non-invasive AAV9-mediated silencing of mutant ataxin-3 alleviates motor and neuropathological deficits in a transgenic mouse model of Machado-Joseph disease
AUTHORS: Nobre, RJ; Saraiva, J; Fusco, C; Paixao, S; Santana, M; Sena Esteves, M; Almeida, LP;
PUBLISHED: 2016, SOURCE: Conference on Changing the Face of Modern Medicine - Stem Cells and Gene Therapy in HUMAN GENE THERAPY, VOLUME: 27, ISSUE: 11
AUTHORS: Nobre, RJ; Saraiva, J; Fusco, C; Paixao, S; Santana, M; Sena Esteves, M; Almeida, LP;
PUBLISHED: 2016, SOURCE: Conference on Changing the Face of Modern Medicine - Stem Cells and Gene Therapy in HUMAN GENE THERAPY, VOLUME: 27, ISSUE: 11
INDEXED IN: WOS
WOS14
TITLE: DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome
AUTHORS: Janson White; Juliana F Mazzeu; Alexander Hoischen; Shalini N Jhangiani; Tomasz Gambin; Michele Calijorne Alcino; Samantha Penney; Jorge M Saraiva; Hanne Hove; Flemming Skovby; Hulya Kayserili; Elicia Estrella; Anneke T Vulto van Silfhout; Marloes Steehouwer; Donna M Muzny; Reid R Sutton; Richard A Gibbs; James R Lupski; Han G Brunner; Bregje W M van Bon; ...More
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 96, ISSUE: 4
AUTHORS: Janson White; Juliana F Mazzeu; Alexander Hoischen; Shalini N Jhangiani; Tomasz Gambin; Michele Calijorne Alcino; Samantha Penney; Jorge M Saraiva; Hanne Hove; Flemming Skovby; Hulya Kayserili; Elicia Estrella; Anneke T Vulto van Silfhout; Marloes Steehouwer; Donna M Muzny; Reid R Sutton; Richard A Gibbs; James R Lupski; Han G Brunner; Bregje W M van Bon; ...More
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 96, ISSUE: 4
15
TITLE: Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene Full Text
AUTHORS: Joana B Melo; Alexandra Estevinho; Jorge Saraiva; Lina Ramos; Isabel M Carreira;
PUBLISHED: 2015, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 8, ISSUE: 1
AUTHORS: Joana B Melo; Alexandra Estevinho; Jorge Saraiva; Lina Ramos; Isabel M Carreira;
PUBLISHED: 2015, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 8, ISSUE: 1
16
TITLE: Genetic Counseling in Portugal: Education, Practice and a Developing Profession Full Text
AUTHORS: Milena Paneque ; Alvaro Mendes ; Jorge Saraiva; Jorge Sequeiros;
PUBLISHED: 2015, SOURCE: JOURNAL OF GENETIC COUNSELING, VOLUME: 24, ISSUE: 4
AUTHORS: Milena Paneque ; Alvaro Mendes ; Jorge Saraiva; Jorge Sequeiros;
PUBLISHED: 2015, SOURCE: JOURNAL OF GENETIC COUNSELING, VOLUME: 24, ISSUE: 4
17
TITLE: 12q21.2q22 Deletion: A New Patient Full Text
AUTHORS: Renata Oliveira; Cristina Pereira; Joana B Melo; Sandra Mesquita; Margarida Venancio; Isabel Marques Carreira; Jorge Saraiva;
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 167, ISSUE: 8
AUTHORS: Renata Oliveira; Cristina Pereira; Joana B Melo; Sandra Mesquita; Margarida Venancio; Isabel Marques Carreira; Jorge Saraiva;
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 167, ISSUE: 8
18
TITLE: Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients Full Text
AUTHORS: Isabel Marques Carreira; Susana Isabel Ferreira; Eunice Matoso; Luis Miguel Pires ; Jose Ferrao; Ana Jardim; Alexandra Mascarenhas; Marta Pinto; Nuno Lavoura; Claudia Pais; Patricia Paiva; Lucia Simoes; Francisco Caramelo; Lina Ramos; Margarida Venancio; Fabiana Ramos; Ana Beleza; Joaquim Sa; Jorge Saraiva; Joana Barbosa de Melo;
PUBLISHED: 2015, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 8, ISSUE: 1
AUTHORS: Isabel Marques Carreira; Susana Isabel Ferreira; Eunice Matoso; Luis Miguel Pires ; Jose Ferrao; Ana Jardim; Alexandra Mascarenhas; Marta Pinto; Nuno Lavoura; Claudia Pais; Patricia Paiva; Lucia Simoes; Francisco Caramelo; Lina Ramos; Margarida Venancio; Fabiana Ramos; Ana Beleza; Joaquim Sa; Jorge Saraiva; Joana Barbosa de Melo;
PUBLISHED: 2015, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 8, ISSUE: 1
19
TITLE: Intellectual Disability, Coarse Face, Relative Macrocephaly, and Cerebellar Hypotrophy in Two Sisters Full Text
AUTHORS: Sergio B Sousa; Fabiana Ramos; Paula Garcia; Rui P Pais; Catarina Paiva; Philip L Beales; Gudrun E Moore; Jorge M Saraiva; Raoul C M Hennekam;
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 164, ISSUE: 1
AUTHORS: Sergio B Sousa; Fabiana Ramos; Paula Garcia; Rui P Pais; Catarina Paiva; Philip L Beales; Gudrun E Moore; Jorge M Saraiva; Raoul C M Hennekam;
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 164, ISSUE: 1
20
TITLE: Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome Full Text
AUTHORS: Sergio B Sousa; Dagan Jenkins; Estelle Chanudet; Guergana Tasseva; Miho Ishida; Glenn Anderson; James Docker; Mina Ryten; Joaquim Sa; Jorge M Saraiva; Angela Barnicoat; Richard Scott; Alistair Calder; Duangrurdee Wattanasirichaigoon; Krystyna Chrzanowska; Martina Simandlova; Lionel Van Maldergem; Philip Stanier; Philip L Beales; Jean E Vance; ...More
PUBLISHED: 2014, SOURCE: NATURE GENETICS, VOLUME: 46, ISSUE: 1
AUTHORS: Sergio B Sousa; Dagan Jenkins; Estelle Chanudet; Guergana Tasseva; Miho Ishida; Glenn Anderson; James Docker; Mina Ryten; Joaquim Sa; Jorge M Saraiva; Angela Barnicoat; Richard Scott; Alistair Calder; Duangrurdee Wattanasirichaigoon; Krystyna Chrzanowska; Martina Simandlova; Lionel Van Maldergem; Philip Stanier; Philip L Beales; Jean E Vance; ...More
PUBLISHED: 2014, SOURCE: NATURE GENETICS, VOLUME: 46, ISSUE: 1
