Jorge Manuel Tavares Lopes de Andrade Saraiva
AuthID: R-000-KA9
41
TITLE: To be or not to be a CNV? How to interpret this question with MLPA Full Text
AUTHORS: Jose Ferrao; Eunice Matoso; Ana Beleza; Jorge Saraiva; Joana Melo; Isabel Carreira;
PUBLISHED: 2011, SOURCE: CHROMOSOME RESEARCH, VOLUME: 19
AUTHORS: Jose Ferrao; Eunice Matoso; Ana Beleza; Jorge Saraiva; Joana Melo; Isabel Carreira;
PUBLISHED: 2011, SOURCE: CHROMOSOME RESEARCH, VOLUME: 19
INDEXED IN: 
WOS
WOS42
TITLE: Microdeletion and microduplication screening in 116 patients with clinical features of 22q11 DS, development delay and autism Full Text
AUTHORS: Lois Pires; Patricia Paiva; Guiomar Oliveira; Fabiana Ramos; Jorge Saraiva; Isabel Carreira;
PUBLISHED: 2011, SOURCE: CHROMOSOME RESEARCH, VOLUME: 19
AUTHORS: Lois Pires; Patricia Paiva; Guiomar Oliveira; Fabiana Ramos; Jorge Saraiva; Isabel Carreira;
PUBLISHED: 2011, SOURCE: CHROMOSOME RESEARCH, VOLUME: 19
INDEXED IN: WOS
WOS43
TITLE: Schimke immunoosseous dysplasia: defining skeletal features Full Text
AUTHORS: Kshamta B Hunter; Thomas Luecke; Juergen Spranger; Sarah F Smithson; Harika Alpay; Jean Luc Andre; Yumi Asakura; Radovan Bogdanovic; Dominique Bonneau; Robyn Cairns; Karlien Cransberg; Stefan Fruend; Helen Fryssira; David Goodman; Knut Helmke; Barbara Hinkelmann; Guiliana Lama; Petra Lamfers; Chantal Loirat; Silvia Majore; ...More
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 169, ISSUE: 7
AUTHORS: Kshamta B Hunter; Thomas Luecke; Juergen Spranger; Sarah F Smithson; Harika Alpay; Jean Luc Andre; Yumi Asakura; Radovan Bogdanovic; Dominique Bonneau; Robyn Cairns; Karlien Cransberg; Stefan Fruend; Helen Fryssira; David Goodman; Knut Helmke; Barbara Hinkelmann; Guiliana Lama; Petra Lamfers; Chantal Loirat; Silvia Majore; ...More
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 169, ISSUE: 7
44
TITLE: Molecular Cytogenetic Characterization of Two Cases with de novo Small Mosaic Supernumerary Marker Chromosomes Derived from Chromosome 16: Towards a Genotype/Phenotype Correlation
AUTHORS: Melo, JB ; Matoso, E; Polityko, A; Saraiva, J; Backx, L; Vermeesch, JR; Kosyakova, N; Ewers, E; Liehr, T; Carreira, IM ;
PUBLISHED: 2009, SOURCE: CYTOGENETIC AND GENOME RESEARCH, VOLUME: 125, ISSUE: 2
AUTHORS: Melo, JB ; Matoso, E; Polityko, A; Saraiva, J; Backx, L; Vermeesch, JR; Kosyakova, N; Ewers, E; Liehr, T; Carreira, IM ;
PUBLISHED: 2009, SOURCE: CYTOGENETIC AND GENOME RESEARCH, VOLUME: 125, ISSUE: 2
45
TITLE: Tetra-Amelia and Lung Hypo/Aplasia Syndrome: New Case Report and Review Full Text
AUTHORS: Sergio B Sousa; Raquel Pina; Lina Ramos; Naigel Pereira; Martin Krahn; Wiktor Borozdin; Juergen Kohlhase; Marta Amorim; Katia Gonnet; Nicolas Levy; Isabel M Carreira ; Ana Bela Couceiro; Jorge M Saraival;
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 146A, ISSUE: 21
AUTHORS: Sergio B Sousa; Raquel Pina; Lina Ramos; Naigel Pereira; Martin Krahn; Wiktor Borozdin; Juergen Kohlhase; Marta Amorim; Katia Gonnet; Nicolas Levy; Isabel M Carreira ; Ana Bela Couceiro; Jorge M Saraival;
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 146A, ISSUE: 21
46
TITLE: First prenatally detected small supernumerary neocentromeric derivative chromosome 13 resulting in a non-mosaic partial tetrasomy 13q
AUTHORS: Mascarenhas, A; Matoso, E; Saraiva, J; Toennies, H; Gerlach, A; Juliao, MJ; Melo, JB ; Carreira, IM;
PUBLISHED: 2008, SOURCE: CYTOGENETIC AND GENOME RESEARCH, VOLUME: 121, ISSUE: 3-4
AUTHORS: Mascarenhas, A; Matoso, E; Saraiva, J; Toennies, H; Gerlach, A; Juliao, MJ; Melo, JB ; Carreira, IM;
PUBLISHED: 2008, SOURCE: CYTOGENETIC AND GENOME RESEARCH, VOLUME: 121, ISSUE: 3-4
47
TITLE: Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome Full Text
AUTHORS: Engenheiro, E; Saraiva, J; Carreira, I; Ramos, L; Ropers, HH; Silva, E ; Tommerup, N; Tumer, Z;
PUBLISHED: 2007, SOURCE: CLINICAL GENETICS, VOLUME: 72, ISSUE: 5
AUTHORS: Engenheiro, E; Saraiva, J; Carreira, I; Ramos, L; Ropers, HH; Silva, E ; Tommerup, N; Tumer, Z;
PUBLISHED: 2007, SOURCE: CLINICAL GENETICS, VOLUME: 72, ISSUE: 5
48
TITLE: Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
AUTHORS: Christiane Zweier; Maarit M Peippo; Juliane Hoyer; Sergio Sousa; Armand Bottani; Jill Clayton Smith; William Reardon; Jorge Saraiva; Alexandra Cabral; Ina Goehring; Koen Devriendt; Thomy de Ravel; Emilia K Bijlsma; Raoul C M Hennekam; Alfredo Orrico; Monika Cohen; Alexander Dreweke; Andre Reis; Peter Nuernberg; Anita Rauch;
PUBLISHED: 2007, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 80, ISSUE: 5
AUTHORS: Christiane Zweier; Maarit M Peippo; Juliane Hoyer; Sergio Sousa; Armand Bottani; Jill Clayton Smith; William Reardon; Jorge Saraiva; Alexandra Cabral; Ina Goehring; Koen Devriendt; Thomy de Ravel; Emilia K Bijlsma; Raoul C M Hennekam; Alfredo Orrico; Monika Cohen; Alexander Dreweke; Andre Reis; Peter Nuernberg; Anita Rauch;
PUBLISHED: 2007, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 80, ISSUE: 5
49
TITLE: Schimke immunoosseous dysplasia: Suggestions of genetic diversity Full Text
AUTHORS: Marietta M Clewing; Helen Fryssira; David Goodman; Sarah F Smithson; Emily A Sloan; Shu Lou; Yan Huang; Kunho Chow; Thomas Luecke; Harika Alpay; Jean Luc Andre; Yumi Asakura; Nathalie Biebuyck Gouge; Radovan Bogdanovic; Dominique Bonneau; Caterina Cancrini; Pierre Cochat; Sandra Cockfield; Laure Collard; Isabel Cordeiro; ...More
PUBLISHED: 2007, SOURCE: HUMAN MUTATION, VOLUME: 28, ISSUE: 3
AUTHORS: Marietta M Clewing; Helen Fryssira; David Goodman; Sarah F Smithson; Emily A Sloan; Shu Lou; Yan Huang; Kunho Chow; Thomas Luecke; Harika Alpay; Jean Luc Andre; Yumi Asakura; Nathalie Biebuyck Gouge; Radovan Bogdanovic; Dominique Bonneau; Caterina Cancrini; Pierre Cochat; Sandra Cockfield; Laure Collard; Isabel Cordeiro; ...More
PUBLISHED: 2007, SOURCE: HUMAN MUTATION, VOLUME: 28, ISSUE: 3
50
TITLE: Visual magnocellular and structure from motion perceptual deficits in a neurodevelopmental model of dorsal stream function Full Text
AUTHORS: Mendes, M; Silva, F; Simoes, L; Jorge, M; Saraiva, J; Castelo Branco, M ;
PUBLISHED: 2005, SOURCE: COGNITIVE BRAIN RESEARCH, VOLUME: 25, ISSUE: 3
AUTHORS: Mendes, M; Silva, F; Simoes, L; Jorge, M; Saraiva, J; Castelo Branco, M ;
PUBLISHED: 2005, SOURCE: COGNITIVE BRAIN RESEARCH, VOLUME: 25, ISSUE: 3
