Luísa Cristina da Costa Azevedo


AuthID: R-000-9VD

Confirmed Publications: 69



61
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
INDEXED IN: Scopus WOS CrossRef: 8
IN MY: ORCID | ResearcherID
62
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 ; Jakobs, C; ...More
PUBLISHED: 2005, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 28, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 26
IN MY: ORCID
63
TITLE: Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene.
AUTHORS: Azevedo, L ; Climent, C; Vilarinho, L; Calafell, F; Amorim, Antonio ;
PUBLISHED: 2004, SOURCE: Human mutation, VOLUME: 24, ISSUE: 3
INDEXED IN: Scopus CrossRef: 4
IN MY: ORCID
64
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
INDEXED IN: WOS
65
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
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID | ResearcherID
66
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
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID
67
68
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
INDEXED IN: Scopus WOS CrossRef: 6
IN MY: ORCID | ResearcherID
69
TITLE: Ornithine Transcarbamylase Deficiency: Genetics
AUTHORS: Luísa Azevedo ; Amorim, Antonio ;
PUBLISHED: 2001, SOURCE: Encyclopedia of Life Sciences
INDEXED IN: CrossRef
IN MY: ORCID
Page 7 of 7. Total results: 69.

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