Jorge Manuel Tavares Lopes de Andrade Saraiva
AuthID: R-000-KA9
41
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
42
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
43
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
44
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
45
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
46
TITLE: Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement Full Text
AUTHORS: Pires, A; Ramos, L; Venancio, M; Rei, AI; Castedo, S ; Saraiva, J;
PUBLISHED: 2005, SOURCE: PRENATAL DIAGNOSIS, VOLUME: 25, ISSUE: 4
AUTHORS: Pires, A; Ramos, L; Venancio, M; Rei, AI; Castedo, S ; Saraiva, J;
PUBLISHED: 2005, SOURCE: PRENATAL DIAGNOSIS, VOLUME: 25, ISSUE: 4
47
TITLE: Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia Full Text
AUTHORS: Boerkoel, CF; Takashima, H; John, J; Yan, J; Stankiewicz, P; Rosenbarker, L; Andre, JL; Bogdanovic, R; Burguet, A; Cockfield, S; Cordeiro, I; Frund, S; Illies, F; Joseph, M; Kaitila, I; Lama, G; Loirat, C; McLeod, DR; Milford, DV; Petty, EM; ...More
PUBLISHED: 2002, SOURCE: NATURE GENETICS, VOLUME: 30, ISSUE: 2
AUTHORS: Boerkoel, CF; Takashima, H; John, J; Yan, J; Stankiewicz, P; Rosenbarker, L; Andre, JL; Bogdanovic, R; Burguet, A; Cockfield, S; Cordeiro, I; Frund, S; Illies, F; Joseph, M; Kaitila, I; Lama, G; Loirat, C; McLeod, DR; Milford, DV; Petty, EM; ...More
PUBLISHED: 2002, SOURCE: NATURE GENETICS, VOLUME: 30, ISSUE: 2
INDEXED IN: 
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WOS CrossRef48
TITLE: Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease Full Text
AUTHORS: Ana Campos-Xavier; Jorge M Saraiva; Ravi Savarirayan; Alain Verloes; Josué Feingold; Laurence Faivre; Arnold Munnich; Martine Le Merrer; Valérie Cormier-Daire;
PUBLISHED: 2001, SOURCE: Hum Genet - Human Genetics, VOLUME: 109, ISSUE: 6
AUTHORS: Ana Campos-Xavier; Jorge M Saraiva; Ravi Savarirayan; Alain Verloes; Josué Feingold; Laurence Faivre; Arnold Munnich; Martine Le Merrer; Valérie Cormier-Daire;
PUBLISHED: 2001, SOURCE: Hum Genet - Human Genetics, VOLUME: 109, ISSUE: 6
INDEXED IN: CrossRef
CrossRef49
TITLE: Absence of a del(22q11) in a patient with the 3C (craniocerebellocardiac) syndrome
AUTHORS: Saraiva, JM; Matoso, E; Marques, I ;
PUBLISHED: 1998, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 35, ISSUE: 4
AUTHORS: Saraiva, JM; Matoso, E; Marques, I ;
PUBLISHED: 1998, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 35, ISSUE: 4
50
TITLE: New case of axial mesodermal dysplasia spectrum
AUTHORS: Jorge M Saraiva;
PUBLISHED: 1995, SOURCE: American Journal of Medical Genetics - Am. J. Med. Genet., VOLUME: 55, ISSUE: 3
AUTHORS: Jorge M Saraiva;
PUBLISHED: 1995, SOURCE: American Journal of Medical Genetics - Am. J. Med. Genet., VOLUME: 55, ISSUE: 3
INDEXED IN: CrossRef
CrossRef