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Luísa Cristina da Costa Azevedo

AuthID: R-000-9VD

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Confirmed Publications: 74

31

TITLE: Improving the in silico assessment of pathogenicity for compensated variants
AUTHORS: Luisa Azevedo ; Matthew Mort; Antonio C Costa; Raquel M Silva; Dulce Quelhas; Amorim, Antonio ; David N Cooper;
PUBLISHED: 2017, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 25, ISSUE: 1

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32

TITLE: 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening Full Text
AUTHORS: Fonseca, H; Azevedo, L ; Serrano, C; Sousa, C; Marcao, A; Vilarinho, L;
PUBLISHED: 2016, SOURCE: GENE, VOLUME: 594, ISSUE: 2

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33

TITLE: Major influence of repetitive elements on disease-associated copy number variants (CNVs) Full Text
AUTHORS: Ana R Cardoso; Manuela Oliveira ; Amorim, Antonio ; Luisa Azevedo ;
PUBLISHED: 2016, SOURCE: HUMAN GENOMICS, VOLUME: 10, ISSUE: 1

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34

TITLE: Compensatory Evolution in Disease-Associated Genes
AUTHORS: Luisa Azevedo ;
PUBLISHED: 2015, SOURCE: eLS

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35

TITLE: Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response Full Text
AUTHORS: Luisa Azevedo ; Catarina Serrano; Amorim, Antonio ; David N Cooper;
PUBLISHED: 2015, SOURCE: HUMAN GENOMICS, VOLUME: 9, ISSUE: 1

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36

TITLE: NAMPT and NAPRT1: novel polymorphisms and distribution of variants between normal tissues and tumor samples Full Text
AUTHORS: Sara Duarte Pereira; Sarah S Silva; Luisa Azevedo ; Luisa Castro ; Amorim, Antonio ; Raquel M Silva;
PUBLISHED: 2014, SOURCE: SCIENTIFIC REPORTS, VOLUME: 4

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37

TITLE: The mitochondrial genome of the pinewood nematode (Bursaphelenchus xylophilus) lineage introduced in Europe Full Text
AUTHORS: Moreira, C; van Asch, B; Fonseca, L; Pereira Castro, I; Silva, R; Azevedo, L ; Mota, M; Abrantes, I; Amorim, Antonio ; Pereira, F;
PUBLISHED: 2014, SOURCE: MITOCHONDRIAL DNA, VOLUME: 25, ISSUE: 6

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38

TITLE: Characterization of human NLZ1/ZNF703 identifies conserved domains essential for proper subcellular localization and transcriptional repression Full Text
AUTHORS: Isabel Pereira Castro; Angela M S Sousa Costa; Maria Jose Oliveira ; Ines Barbosa; Ana Sofia Rocha; Luisa Azevedo ; Luis Teixeira da Costa ;
PUBLISHED: 2013, SOURCE: JOURNAL OF CELLULAR BIOCHEMISTRY, VOLUME: 114, ISSUE: 1

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39

TITLE: Frequency and Pattern of Heteroplasmy in the Complete Human Mitochondrial Genome Full Text
AUTHORS: Amanda Ramos; Cristina Santos; Ligia Mateiu; Maria D del Mar Gonzalez; Luis Alvarez ; Luisa Azevedo ; Amorim, Antonio ; Maria P Pilar Aluja;
PUBLISHED: 2013, SOURCE: PLOS ONE, VOLUME: 8, ISSUE: 10

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40

TITLE: Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome Full Text
AUTHORS: Celia Nogueira; Jorge Sales Marques; Claudia Nesti; Luisa Azevedo ; Martina Di Lullo; Chiara C Meschini; Antonio Orlacchio; Filippo M Santorelli; Laura Vilarinho;
PUBLISHED: 2013, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 110, ISSUE: 4

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