Laura Ferreira Teixeira Vilarinho
AuthID: R-002-GKT
61
TITLE: Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type Full Text
AUTHORS: Celia Nogueira; Chiara Aiello; Roberto Cerone; Esmeralda Martins ; Ubaldo Caruso; Isabella Moroni; Cristiano Rizzo; Luisa Diogo; Elisa Leao; Fernando Kok; Federica Deodato; Maria Cristina Schiaffino; Sara Boenzi; Olivier Danhaive; Clara Barbot ; Silvia Sequeira; Mattia Locatelli; Filippo M Santorelli; Graziella Uziel; Laura Vilarinho; ...More
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 93, ISSUE: 4
AUTHORS: Celia Nogueira; Chiara Aiello; Roberto Cerone; Esmeralda Martins ; Ubaldo Caruso; Isabella Moroni; Cristiano Rizzo; Luisa Diogo; Elisa Leao; Fernando Kok; Federica Deodato; Maria Cristina Schiaffino; Sara Boenzi; Olivier Danhaive; Clara Barbot ; Silvia Sequeira; Mattia Locatelli; Filippo M Santorelli; Graziella Uziel; Laura Vilarinho; ...More
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 93, ISSUE: 4
62
TITLE: Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 Full Text
AUTHORS: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; William B Dobyns; Dulce Quelhas; Laura Vilarinho; Elisa Leao-Teles; Marie Greally; Eva Seemanova; Martina Simandlova; Mustafa Salih; Arti Nanda; Lina Basel-Vanagaite; Hulya Kayserili; ...More
PUBLISHED: 2008, SOURCE: Nature Genetics, VOLUME: 40, ISSUE: 1
AUTHORS: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; William B Dobyns; Dulce Quelhas; Laura Vilarinho; Elisa Leao-Teles; Marie Greally; Eva Seemanova; Martina Simandlova; Mustafa Salih; Arti Nanda; Lina Basel-Vanagaite; Hulya Kayserili; ...More
PUBLISHED: 2008, SOURCE: Nature Genetics, VOLUME: 40, ISSUE: 1
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TITLE: A new mtDNA-tRNA(Glu) mutation (14728T > C) presenting a late-onset mitochondrial encephalomyopathy Full Text
AUTHORS: Celia Nogueira; Joao Nunes; Teresinha Evangelista; Fabiana Fattori; Alessandra Tessa; Cristina Pereira; Filippo M Santorelli; Laura Vilarinho;
PUBLISHED: 2007, SOURCE: MITOCHONDRION, VOLUME: 7, ISSUE: 6
AUTHORS: Celia Nogueira; Joao Nunes; Teresinha Evangelista; Fabiana Fattori; Alessandra Tessa; Cristina Pereira; Filippo M Santorelli; Laura Vilarinho;
PUBLISHED: 2007, SOURCE: MITOCHONDRION, VOLUME: 7, ISSUE: 6
64
TITLE: Congenital disorder of glycosylation type Ia: Searching for the origin of common mutations in PMM2. Origin(s) of PMM2 Gene Mutations Full Text
AUTHORS: Quelhas, D; Quental, R; Vilarinho, L; Amorim, Antonio ; Azevedo, L ;
PUBLISHED: 2007, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 71, ISSUE: 3
AUTHORS: Quelhas, D; Quental, R; Vilarinho, L; Amorim, Antonio ; Azevedo, L ;
PUBLISHED: 2007, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 71, ISSUE: 3
65
TITLE: Identification of a new mtDNA mutation (14724G > A) associated with mitochondrial leukoencephalopathy Full Text
AUTHORS: Cristina Pereira; Celia Nogueira; Clara Barbot ; Alessandra Tessa; Carla Soares; Fabiana Fattori; Antonio Guimaraes; Filippo M Santorelli; Laura Vilarinho;
PUBLISHED: 2007, SOURCE: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, VOLUME: 354, ISSUE: 4
AUTHORS: Cristina Pereira; Celia Nogueira; Clara Barbot ; Alessandra Tessa; Carla Soares; Fabiana Fattori; Antonio Guimaraes; Filippo M Santorelli; Laura Vilarinho;
PUBLISHED: 2007, SOURCE: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, VOLUME: 354, ISSUE: 4
66
TITLE: Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC) Full Text
AUTHORS: Azevedo, L ; Soares, PA ; Quental, R; Vilarinho, L; Teles, EL; Martins, E ; Diogo, L; Garcia, P; Cenni, B; Wermuth, B; Amorim, Antonio ;
PUBLISHED: 2006, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 70, ISSUE: 6
AUTHORS: Azevedo, L ; Soares, PA ; Quental, R; Vilarinho, L; Teles, EL; Martins, E ; Diogo, L; Garcia, P; Cenni, B; Wermuth, B; Amorim, Antonio ;
PUBLISHED: 2006, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 70, ISSUE: 6
67
TITLE: SANDO: Two novel mutations in POLG1 gene Full Text
AUTHORS: Miguel Fernandes Gago; Rosas, MJ; Joana Guirnaraes ; Mariana Ferreira; Laura Vilarinho; Ligia Castro; Stirling Carpenter;
PUBLISHED: 2006, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 16, ISSUE: 8
AUTHORS: Miguel Fernandes Gago; Rosas, MJ; Joana Guirnaraes ; Mariana Ferreira; Laura Vilarinho; Ligia Castro; Stirling Carpenter;
PUBLISHED: 2006, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 16, ISSUE: 8
68
TITLE: Prenatal diagnosis for CDG 1a based on post-mortem molecular study of Guthrie card Full Text
AUTHORS: Nogueira, C; Quelhas, D; Vilarinho, L;
PUBLISHED: 2006, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 87, ISSUE: 4
AUTHORS: Nogueira, C; Quelhas, D; Vilarinho, L;
PUBLISHED: 2006, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 87, ISSUE: 4
69
TITLE: Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7 Full Text
AUTHORS: Cardoso, ML; Balreira, A; Martins, E ; Nunes, L; Cabral, A; Marques, M; Lima, MR; Marques, JS; Medeira, A; Cordeiro, I; Pedro, S; Mota, MC; Dionisi Vici, C; Santorelli, FM; Jakobs, C; Clayton, PT; Vilarinho, L;
PUBLISHED: 2005, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 85, ISSUE: 3
AUTHORS: Cardoso, ML; Balreira, A; Martins, E ; Nunes, L; Cabral, A; Marques, M; Lima, MR; Marques, JS; Medeira, A; Cordeiro, I; Pedro, S; Mota, MC; Dionisi Vici, C; Santorelli, FM; Jakobs, C; Clayton, PT; Vilarinho, L;
PUBLISHED: 2005, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 85, ISSUE: 3
70
TITLE: NOVEL MUTATIONS IN 21 PATIENTS WITH L-2-HYDROXYGLUTARIC ACIDURIA OF PORTUGUESE ORIGIN Full Text
AUTHORS: Vilarinho, L; Cardoso, ML; Gaspar, P; Barbot, C ; Azevedo, L ; Diogo, L; Santos, M; Carrilho, I; Fineza, I; Kok, F; Chorao, R; Alegria, P; Martins, E ; Teixeira, J; Cabral C Fernandes; Verhoeven, NM; Salomons, GS; Santorelli, FM; Cabral, P; Amorim, Antonio ; ...More
PUBLISHED: 2005, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 28, ISSUE: 4
AUTHORS: Vilarinho, L; Cardoso, ML; Gaspar, P; Barbot, C ; Azevedo, L ; Diogo, L; Santos, M; Carrilho, I; Fineza, I; Kok, F; Chorao, R; Alegria, P; Martins, E ; Teixeira, J; Cabral C Fernandes; Verhoeven, NM; Salomons, GS; Santorelli, FM; Cabral, P; Amorim, Antonio ; ...More
PUBLISHED: 2005, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 28, ISSUE: 4
