Ana Maria Figueiredo Tavares Fortuna
AuthID: R-00H-H5G
11
TITLE: FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes Full Text
AUTHORS: Seixas, AI; Vale, J; Jorge, P; Marques, I; Santos, R; Alonso, I ; Fortuna, AM; Pinto Basto, J; Coutinho, P ; Margolis, RL; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2011, SOURCE: BEHAVIORAL AND BRAIN FUNCTIONS, VOLUME: 7, ISSUE: 1
AUTHORS: Seixas, AI; Vale, J; Jorge, P; Marques, I; Santos, R; Alonso, I ; Fortuna, AM; Pinto Basto, J; Coutinho, P ; Margolis, RL; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2011, SOURCE: BEHAVIORAL AND BRAIN FUNCTIONS, VOLUME: 7, ISSUE: 1
12
TITLE: Private dysferlin exon skipping mutation (c.5492G > A) with a founder effect reveals further alternative splicing involving exons 49-51 Full Text
AUTHORS: Rosario Santos; Jorge Oliveira; Emilia Vieira; Teresa Coelho; Antonio Leite Carneiro; Teresinha Evangelista; Cristina Dias; Ana Fortuna; Argemiro Geraldo; Luis Negrao; Antonio Guimaraes; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ;
PUBLISHED: 2010, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 55, ISSUE: 8
AUTHORS: Rosario Santos; Jorge Oliveira; Emilia Vieira; Teresa Coelho; Antonio Leite Carneiro; Teresinha Evangelista; Cristina Dias; Ana Fortuna; Argemiro Geraldo; Luis Negrao; Antonio Guimaraes; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ;
PUBLISHED: 2010, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 55, ISSUE: 8
13
TITLE: Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
AUTHORS: Yvonne J Vos; Hermien E K de Walle; Krista K Bos; Jenneke A Stegeman; Annelies M ten Berge; Martijn Bruining; Merel C van Maarle; Mariet W Elting; Nicolette S den Hollander; Ben Hamel; Ana Maria Fortuna; Lone E M Sunde; Irene Stolte Dijkstra; Connie T R M Schrander Stumpel; Robert M W Hofstra;
PUBLISHED: 2010, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 47, ISSUE: 3
AUTHORS: Yvonne J Vos; Hermien E K de Walle; Krista K Bos; Jenneke A Stegeman; Annelies M ten Berge; Martijn Bruining; Merel C van Maarle; Mariet W Elting; Nicolette S den Hollander; Ben Hamel; Ana Maria Fortuna; Lone E M Sunde; Irene Stolte Dijkstra; Connie T R M Schrander Stumpel; Robert M W Hofstra;
PUBLISHED: 2010, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 47, ISSUE: 3
14
TITLE: A NONSENSE PORCN MUTATION IN SEVERE FOCAL DERMAL HYPOPLASIA WITH NATAL TEETH Full Text
AUTHORS: Cristina Dias; Jorge Basto; Odilia Pinho; Carla Barbedo; Marcia Martins; Dorothea Bornholdt; Ana Fortuna; Karl Heinz Grzeschik; Margarida Lima;
PUBLISHED: 2010, SOURCE: FETAL AND PEDIATRIC PATHOLOGY, VOLUME: 29, ISSUE: 5
AUTHORS: Cristina Dias; Jorge Basto; Odilia Pinho; Carla Barbedo; Marcia Martins; Dorothea Bornholdt; Ana Fortuna; Karl Heinz Grzeschik; Margarida Lima;
PUBLISHED: 2010, SOURCE: FETAL AND PEDIATRIC PATHOLOGY, VOLUME: 29, ISSUE: 5
15
TITLE: Galactosialidosis presenting as nonimmune fetal hydrops: a case report Full Text
AUTHORS: Susana Carvalho; Marcia Martins; Ana Fortuna; Umbelina Ramos; Carlos Ramos; Maria Ceu Rodrigues;
PUBLISHED: 2009, SOURCE: PRENATAL DIAGNOSIS, VOLUME: 29, ISSUE: 9
AUTHORS: Susana Carvalho; Marcia Martins; Ana Fortuna; Umbelina Ramos; Carlos Ramos; Maria Ceu Rodrigues;
PUBLISHED: 2009, SOURCE: PRENATAL DIAGNOSIS, VOLUME: 29, ISSUE: 9
16
TITLE: Familial 18p Syndrome-A clinical case
AUTHORS: Carla Laranjeira; Ana Fortuna; Ana Teixeira; Natalia Teles; Susana Peres;
PUBLISHED: 2009, SOURCE: ANALES DE PEDIATRIA, VOLUME: 70, ISSUE: 1
AUTHORS: Carla Laranjeira; Ana Fortuna; Ana Teixeira; Natalia Teles; Susana Peres;
PUBLISHED: 2009, SOURCE: ANALES DE PEDIATRIA, VOLUME: 70, ISSUE: 1
INDEXED IN: 
Scopus 
WOS
Scopus WOS IN MY: 
ORCID
ORCID17
TITLE: Síndrome 18p familiar. Caso clínico
AUTHORS: Carla Laranjeira; Ana Fortuna; Ana Teixeira; Natália Teles; Susana Peres;
PUBLISHED: 2009, SOURCE: Anales de Pediatría, VOLUME: 70, ISSUE: 1
AUTHORS: Carla Laranjeira; Ana Fortuna; Ana Teixeira; Natália Teles; Susana Peres;
PUBLISHED: 2009, SOURCE: Anales de Pediatría, VOLUME: 70, ISSUE: 1
18
TITLE: Genes, children and paediatricians [Genes, crianças e pediatras]
AUTHORS: Goncalves Rocha, M; Silva, J; Fortuna, AM; Soares, G;
PUBLISHED: 2008, SOURCE: Nascer e Crescer, VOLUME: 17, ISSUE: 4
AUTHORS: Goncalves Rocha, M; Silva, J; Fortuna, AM; Soares, G;
PUBLISHED: 2008, SOURCE: Nascer e Crescer, VOLUME: 17, ISSUE: 4
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID19
TITLE: Genes, children and paediatricians [Genes, crianças e pediatras]
AUTHORS: Barbosa, M; Pinto Basto, J; Fortuna, AM; Lima, MR;
PUBLISHED: 2007, SOURCE: Nascer e Crescer, VOLUME: 16, ISSUE: 1
AUTHORS: Barbosa, M; Pinto Basto, J; Fortuna, AM; Lima, MR;
PUBLISHED: 2007, SOURCE: Nascer e Crescer, VOLUME: 16, ISSUE: 1
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID20
TITLE: Genes, children and paediatricians
AUTHORS: Cristina Dias; Manuela Santos; Manuela Vilarinho; Rosário Santos; Ana Maria Fortuna; Margarida Reis Lima;
PUBLISHED: 2007, SOURCE: Nascer e Crescer, VOLUME: 16, ISSUE: 3
AUTHORS: Cristina Dias; Manuela Santos; Manuela Vilarinho; Rosário Santos; Ana Maria Fortuna; Margarida Reis Lima;
PUBLISHED: 2007, SOURCE: Nascer e Crescer, VOLUME: 16, ISSUE: 3
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID