ProfileOfResearchers

TITLE: MUTATIONAL SPECTRUM OF GENES RELATED TO HEREDITARY NEUROPATHIES - DATA FROM A MOLECULAR DIAGNOSTICS LABORATORY Full Text
AUTHORS: Lopes, Fatima; Lopes, Alexandra M.; Brandao, Ana Filipa; Silva, Paulo; Lopes, Ana; Bastos Ferreira, Rita; Morais, Sara; Sa, Joana; Rocha, Liliana; Alves, Filipe; Nabais Sa, Maria Joao; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13

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TITLE: GENETIC HETEROGENEITY IN MUSCULAR DYSTROPHIES AND CONGENITAL MYOPATHIES: DATA FROM MULTIGENE WES-BASED GENETIC STUDIES Full Text
AUTHORS: Lopes, Alexandra M.; Lopes, Fatima; Brandao, Ana Filipa; Silva, Paulo; Alves, Filipe; Lopes, Ana; Bastos Ferreira, Rita; Morais, Sara; Nabais Sa, Maria Joao; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13

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TITLE: Genetic analysis in a large cohort of patients with hereditary spastic paraplegia: diagnostic challenges
AUTHORS: Morais, Sara; Brandao, Ana Filipa; Lopes, Ana; Bastos Ferreira, Rita; Sousa, Susana; Silva, Paulo; Lopes, Fatima; Lopes, Alexandra; Damasio, Joana; Loureiro, Jose Leal; Magalhaes, Marina; Leao, Miguel; Costa, Cristina; Mare, Ricardo; Sequeiros, Jorge; Freixo, Joao Parente; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1

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TITLE: Genetic characterization of 274 patients with neurofibromatosis type 1: rare and diagnostically challenging co-occurrence of two variants in the same patient
AUTHORS: Ferreira, Rita Bastos; Sousa, Susana; Lopes, Ana; Brandaeo, Ana Filipa; Morais, Sara; Silva, Paulo; Lopes, Fatima; Lopes, Alexandra; Patraquim, Claudia; Rocha, Miguel; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1

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TITLE: Copy number variants in a large cohort analysed with whole-exome sequencing: lessons for genetic diagnosis
AUTHORS: Lopes, Fatima; Lopes, Alexandra M. ; Silva, Paulo; Sousa, Susana; Morais, Sara; Sa, Joana; Brandao, Ana Filipa; Lopes, Ana; Bastos Ferreira, Rita; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1

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TITLE: Clinical and genetic characterization of seven Portuguese patients with KMT2B variants
AUTHORS: Lopes, Alexandra M. ; Sousa, Susana; Lopes, Ana; Silva, Paulo; Morais, Sara; Brandao, Ana F.; Lopes, Fatima; Bastos Ferreira, Rita; Jorge, Andre; Januario, Cristina; Costa, Henrique M.; Bras, Ana C.; Quental, Rita; Leao, Miguel; Damasio, Joana; Magalhaes, Marina; Freixo, Joao P.; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1

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TITLE: Genetic variation spectrum of ATP7B in a cohort of 113 patients with Wilson disease
AUTHORS: Freixo, Joao Parente; Lopes, Ana; Bastos Ferreira, Rita; Antunes, Henedina; Silva, Ermelinda Santos; Sequeiros, Jorge; Magalhaes, Marina; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1

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TITLE: PRKN analysis in Parkinson disease: two decades experience
AUTHORS: Brandao, Ana Filipa; Morais, Sara; Bastos Ferreira, Rita; Sousa, Susana; Magalhaes, Marina; Lima, Antonio Bastos; Grilo Goncalves, Jose Alves; Guedes, Leonor Correia; Mendes, Alexandre; Velon, Ana Graca; Bueno, Carlos Sanchez; Proenca, Joao; Manuela Costa, Maria Manuela; Oliveira, Ana; Ferreira, Joaquim; Blanco, Mario Romero; Araujo, Rui; Lampreia, Tania; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge; ...More
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1

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WOS

TITLE: GENETIC VARIATION SPECTRUM OF ATP7B IN A COHORT OF 113 PATIENTS WITH WILSON DISEASE Full Text
AUTHORS: Freixo, Joao Parente; Lopes, Ana; Bastos Ferreira, Rita; Silva, Ermelinda Santos; Antunes, Henedina; Sequeiros, Jorge; Magalhaes, Marina; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: 25th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 101, ISSUE: 30

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TITLE: INCIDENTAL CARRIER DETECTION OF 639 VARIANTS IN PATIENTS TESTED FOR DIAGNOSTIC PURPOSES: ADDED VALUE FOR GENETIC COUNSELLING AND A GLIMPSE ABOUT RECESSIVE DISEASES IN PORTUGAL Full Text
AUTHORS: Lopes, Fatima; Alves, Filipe; Silva, Paulo; Sousa, Susana; Morais, Sara; Sa, Joana; Brandao, Ana Filipa; Lopes, Ana; Bastos Ferreira, Rita; Lopes, Alexandra; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30

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