Laura Ferreira Teixeira Vilarinho
AuthID: R-002-GKT
71
TITLE: Heart transplantation in a patient harboring the mtDNA 3271T > C mutation
AUTHORS: Vilarinho, L; Pereira, C; Nogueira, C; Pinon, M; Martins, E; Maciel, M; Leao Teles, E;
PUBLISHED: 2004, SOURCE: 6th European Meeting on Mitochondrial Pathology in BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, VOLUME: 1657
AUTHORS: Vilarinho, L; Pereira, C; Nogueira, C; Pinon, M; Martins, E; Maciel, M; Leao Teles, E;
PUBLISHED: 2004, SOURCE: 6th European Meeting on Mitochondrial Pathology in BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, VOLUME: 1657
INDEXED IN: 
WOS
WOS72
TITLE: Analysis of polymorphic sites within ornithine transcarbamylase (OTC) gene improves mutation analysis in females with OTC deficiency
AUTHORS: Dvorakova, L; Stolnaja, L; Tietzeova, E; Azevedo, L ; Vilarinho, L; Amorim, Antonio ; Hruba, E; Hrebicek, M;
PUBLISHED: 2003, SOURCE: Annual Meeting of the American-Society-of-Human-Genetics in AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 73, ISSUE: 5
AUTHORS: Dvorakova, L; Stolnaja, L; Tietzeova, E; Azevedo, L ; Vilarinho, L; Amorim, Antonio ; Hruba, E; Hrebicek, M;
PUBLISHED: 2003, SOURCE: Annual Meeting of the American-Society-of-Human-Genetics in AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 73, ISSUE: 5
INDEXED IN: WOS
WOS73
TITLE: Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis
AUTHORS: Butler, M; Quelhas, D; Critchley, AJ; Carchon, H; Hebestreit, HF; Hibbert, RG; Vilarinho, L; Teles, E; Matthijs, G; Schollen, E; Argibay, P; Harvey, DJ; Dwek, RA; Jaeken, J; Rudd, PM;
PUBLISHED: 2003, SOURCE: GLYCOBIOLOGY, VOLUME: 13, ISSUE: 9
AUTHORS: Butler, M; Quelhas, D; Critchley, AJ; Carchon, H; Hebestreit, HF; Hibbert, RG; Vilarinho, L; Teles, E; Matthijs, G; Schollen, E; Argibay, P; Harvey, DJ; Dwek, RA; Jaeken, J; Rudd, PM;
PUBLISHED: 2003, SOURCE: GLYCOBIOLOGY, VOLUME: 13, ISSUE: 9
74
TITLE: New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis Full Text
AUTHORS: Azevedo, L ; Stolnaja, L; Tietzeova, E; Hrebicek, M; Hruba, E; Vilarinho, L; Amorim, Antonio ; Dvorakova, L;
PUBLISHED: 2003, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 78, ISSUE: 2
AUTHORS: Azevedo, L ; Stolnaja, L; Tietzeova, E; Hrebicek, M; Hruba, E; Vilarinho, L; Amorim, Antonio ; Dvorakova, L;
PUBLISHED: 2003, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 78, ISSUE: 2
75
TITLE: Studies on the plasma composition offish hosts of the freshwater mussel, Hyriopsis myersiana , with implications for improvement of the medium for culture of glochidia
AUTHORS: KOVITVADHI UTHAIWAN; PANNEE PAKKONG; NAPA VARN NOPARATNARAPORN; LAURA VILARINHO; JORGE MACHADO;
PUBLISHED: 2003, SOURCE: Invertebrate Reproduction & Development, VOLUME: 44, ISSUE: 1
AUTHORS: KOVITVADHI UTHAIWAN; PANNEE PAKKONG; NAPA VARN NOPARATNARAPORN; LAURA VILARINHO; JORGE MACHADO;
PUBLISHED: 2003, SOURCE: Invertebrate Reproduction & Development, VOLUME: 44, ISSUE: 1
INDEXED IN: 
CrossRef
CrossRef76
TITLE: Haplotype analysis and phylogeny of ornithine transcarbamylase polymorphisms Full Text
AUTHORS: Azevedo, L ; Calafell, F; Vilarinho, L; Amorim, Antonio ;
PUBLISHED: 2002, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 66, ISSUE: 5-6
AUTHORS: Azevedo, L ; Calafell, F; Vilarinho, L; Amorim, Antonio ;
PUBLISHED: 2002, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 66, ISSUE: 5-6
77
TITLE: Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis Full Text
AUTHORS: Azevedo, L ; Vilarinho, L; Teles, EL; Amorim, Antonio ;
PUBLISHED: 2002, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 76, ISSUE: 1
AUTHORS: Azevedo, L ; Vilarinho, L; Teles, EL; Amorim, Antonio ;
PUBLISHED: 2002, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 76, ISSUE: 1
78
TITLE: Maternally inherited deafness associated with a T1095C mutation in the mDNA Full Text
AUTHORS: Tessa, A; Giannotti, A; Tieri, L; Vilarinho, L; Marotta, G; Santorelli, FM;
PUBLISHED: 2001, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 9, ISSUE: 2
AUTHORS: Tessa, A; Giannotti, A; Tieri, L; Vilarinho, L; Marotta, G; Santorelli, FM;
PUBLISHED: 2001, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 9, ISSUE: 2
79
TITLE: Clinical and molecular studies in three Portuguese mtDNA T8993G families Full Text
AUTHORS: Vilarinho, L; Leao, E; Barbot, C ; Santos, M; Rocha, H; Santorelli, FM;
PUBLISHED: 2000, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 22, ISSUE: 1
AUTHORS: Vilarinho, L; Leao, E; Barbot, C ; Santos, M; Rocha, H; Santorelli, FM;
PUBLISHED: 2000, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 22, ISSUE: 1
80
TITLE: MtDNA-related idiopathic dilated cardiomyopathy Full Text
AUTHORS: Tessa, A; Vilarinho, L; Casali, C; Santorelli, FM;
PUBLISHED: 1999, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 7, ISSUE: 8
AUTHORS: Tessa, A; Vilarinho, L; Casali, C; Santorelli, FM;
PUBLISHED: 1999, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 7, ISSUE: 8
