Ana Maria Figueiredo Tavares Fortuna
AuthID: R-00H-H5G
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TITLE: Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication Full Text
AUTHORS: Quental, Rita; Pinho, Diana; Tkachenko, Natalia; Gonzaga, Diana; Mota, Maria do Ceu; Garrido, Cristina; Carmona, Carla; Quental, Sofia; Fortuna, Ana Maria; Soares, Celia Azevedo;
PUBLISHED: 2024, SOURCE: EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, VOLUME: 25, ISSUE: 1
AUTHORS: Quental, Rita; Pinho, Diana; Tkachenko, Natalia; Gonzaga, Diana; Mota, Maria do Ceu; Garrido, Cristina; Carmona, Carla; Quental, Sofia; Fortuna, Ana Maria; Soares, Celia Azevedo;
PUBLISHED: 2024, SOURCE: EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, VOLUME: 25, ISSUE: 1
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TITLE: Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD) Full Text
AUTHORS: Goncalves, A ; Fortuna, A; Ariyurek, Y; Oliveira, ME ; Nadais, G; Pinheiro, J; den Dunnen, JT; Sousa, M ; Oliveira, J ; Santos, R;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 1
AUTHORS: Goncalves, A ; Fortuna, A; Ariyurek, Y; Oliveira, ME ; Nadais, G; Pinheiro, J; den Dunnen, JT; Sousa, M ; Oliveira, J ; Santos, R;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 1
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TITLE: Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB
AUTHORS: Maia, N; Soares, AR ; Fortuna, AM; Marques, I; Goncalves, A ; Santos, R; Pires, MM ; de Brouwer, APM; Jorge, P;
PUBLISHED: 2020, SOURCE: CLINICAL CASE REPORTS, VOLUME: 8, ISSUE: 12
AUTHORS: Maia, N; Soares, AR ; Fortuna, AM; Marques, I; Goncalves, A ; Santos, R; Pires, MM ; de Brouwer, APM; Jorge, P;
PUBLISHED: 2020, SOURCE: CLINICAL CASE REPORTS, VOLUME: 8, ISSUE: 12
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TITLE: Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome
AUTHORS: Maia, N; Sa, MJN ; Tkachenko, N; Soares, G; Marques, I; Rodrigues, B; Fortuna, AM; Santos, R; de Brouwer, APM; Jorge, P;
PUBLISHED: 2018, SOURCE: MOLECULAR SYNDROMOLOGY, VOLUME: 9, ISSUE: 1
AUTHORS: Maia, N; Sa, MJN ; Tkachenko, N; Soares, G; Marques, I; Rodrigues, B; Fortuna, AM; Santos, R; de Brouwer, APM; Jorge, P;
PUBLISHED: 2018, SOURCE: MOLECULAR SYNDROMOLOGY, VOLUME: 9, ISSUE: 1
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TITLE: The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant Full Text
AUTHORS: David A Koolen; Rolph Pfundt; Katrin Linda; Gea Beunders; Hermine E Veenstra Knol; Jessie H Conta; Ana Maria Fortuna; Gabriele Gillessen Kaesbach; Sarah Dugan; Sara Halbach; Omar A Abdul Rahman; Heather M Winesett; Wendy K Chung; Marguerite Dalton; Petia S Dimova; Teresa Mattina; Katrina Prescott; Hui Z Zhang; Howard M Saal; Jayne Y Hehir Kwa; ...More
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 5
AUTHORS: David A Koolen; Rolph Pfundt; Katrin Linda; Gea Beunders; Hermine E Veenstra Knol; Jessie H Conta; Ana Maria Fortuna; Gabriele Gillessen Kaesbach; Sarah Dugan; Sara Halbach; Omar A Abdul Rahman; Heather M Winesett; Wendy K Chung; Marguerite Dalton; Petia S Dimova; Teresa Mattina; Katrina Prescott; Hui Z Zhang; Howard M Saal; Jayne Y Hehir Kwa; ...More
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 5
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TITLE: A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone
AUTHORS: Fijalkowski, I; Geets, E; Steenackers, E; Van Hoof, V; Ramos, FJ; Mortier, G; Fortuna, AM; Van Hul, W; Boudin, E;
PUBLISHED: 2016, SOURCE: JOURNAL OF BONE AND MINERAL RESEARCH, VOLUME: 31, ISSUE: 4
AUTHORS: Fijalkowski, I; Geets, E; Steenackers, E; Van Hoof, V; Ramos, FJ; Mortier, G; Fortuna, AM; Van Hul, W; Boudin, E;
PUBLISHED: 2016, SOURCE: JOURNAL OF BONE AND MINERAL RESEARCH, VOLUME: 31, ISSUE: 4
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TITLE: New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing
AUTHORS: Jorge Oliveira; Luis Negrao; Isabel Fineza; Ricardo Taipa; Manuel Melo Pires; Ana Maria Fortuna; Ana Rita Goncalves ; Hugo Froufe; Conceicao Egas; Rosario Santos; Mario Sousa ;
PUBLISHED: 2015, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 60, ISSUE: 6
AUTHORS: Jorge Oliveira; Luis Negrao; Isabel Fineza; Ricardo Taipa; Manuel Melo Pires; Ana Maria Fortuna; Ana Rita Goncalves ; Hugo Froufe; Conceicao Egas; Rosario Santos; Mario Sousa ;
PUBLISHED: 2015, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 60, ISSUE: 6
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TITLE: Living with inborn errors of cholesterol biosynthesis: lessons from adult patients. Living with inborn errors of cholesterol biosynthesis Full Text
AUTHORS: Cardoso, ML; Barbosa, M; Serra, D; Martins, E ; Fortuna, A; Reis Lima, M; Bandeira, A; Balreira, A; Marques, F ;
PUBLISHED: 2014, SOURCE: CLINICAL GENETICS, VOLUME: 85, ISSUE: 2
AUTHORS: Cardoso, ML; Barbosa, M; Serra, D; Martins, E ; Fortuna, A; Reis Lima, M; Bandeira, A; Balreira, A; Marques, F ;
PUBLISHED: 2014, SOURCE: CLINICAL GENETICS, VOLUME: 85, ISSUE: 2
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TITLE: Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients Full Text
AUTHORS: Barbosa, M; Lopes, A; Mota, C; Martins, E ; Oliveira, J; Alves, S; De Bonis, P; Do Ceu C Mota; Dias, C; Paulo Rodrigues-Santos ; Fortuna, AM; Quelhas, D; Lacerda, L; Bisceglia, L; Cardoso, ML;
PUBLISHED: 2012, SOURCE: CLINICAL GENETICS, VOLUME: 81, ISSUE: 1
AUTHORS: Barbosa, M; Lopes, A; Mota, C; Martins, E ; Oliveira, J; Alves, S; De Bonis, P; Do Ceu C Mota; Dias, C; Paulo Rodrigues-Santos ; Fortuna, AM; Quelhas, D; Lacerda, L; Bisceglia, L; Cardoso, ML;
PUBLISHED: 2012, SOURCE: CLINICAL GENETICS, VOLUME: 81, ISSUE: 1
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TITLE: Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population Full Text
AUTHORS: Barbosaa, M; Sousa, AB; Medeira, A; Lourenco, T; Saraiva, J; Pinto Basto, J; Soares, G; Fortuna, AM; Superti Furga, A; Mittaz, L; Reis Lima, M; Bonafe, L;
PUBLISHED: 2011, SOURCE: CLINICAL GENETICS, VOLUME: 80, ISSUE: 6
AUTHORS: Barbosaa, M; Sousa, AB; Medeira, A; Lourenco, T; Saraiva, J; Pinto Basto, J; Soares, G; Fortuna, AM; Superti Furga, A; Mittaz, L; Reis Lima, M; Bonafe, L;
PUBLISHED: 2011, SOURCE: CLINICAL GENETICS, VOLUME: 80, ISSUE: 6
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