1
TITLE: Next-generation sequencing of 12 obesity genes in a Portuguese cohort of patients with overweight and obesity
AUTHORS: Manco, Licinio; Pereira, Janet; Fidalgo, Teresa; Cunha, Marina ; Pinto Gouveia, Jose; Padez, Cristina; Palmeira, Lara;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 66, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 4 Unpaywall
2
TITLE: MOLECULAR CHARACTERIZATION OF CONGENITAL ERYTHROCYTOSIS AND IDIOPATHIC ERYTHROCYTOSIS ANALYSED BY NEXT-GENERATION SEQUENCING  Full Text
AUTHORS: Frias, Raquel; Pereira, Janet; Relvas, Luis; Cunha, Elizabete; Manco, Licinio; Maia, Tabita Magalhaes; Bento, Celeste;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
3
TITLE: <i>MC4R</i> deficiency in a portuguese pediatric cohort study
AUTHORS: Mendes, Ariana C.; Pereira, Janet; Mirante, Alice; Saraiva, Jorge M.; Soares, Ana R.; Sousa, Sergio B.; Rosmaninho Salgado, Joana;
PUBLISHED: 2023, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 96
INDEXED IN: WOS
4
TITLE: Molecular characterisation of Congenital Erythrocytosis and Idiopathic Erythrocytosis analysed by Next-Generation Sequencing  Full Text
AUTHORS: Frias, Raquel; Pereira, Janet; Bento, Celeste;
PUBLISHED: 2022, SOURCE: BRITISH JOURNAL OF HAEMATOLOGY, VOLUME: 197
INDEXED IN: WOS
5
TITLE: A Clinical Case of MC4R Deficiency in a Portuguese Pediatric Cohort Study
AUTHORS: Joana Rosmaninho Salgado; Janet Pereira; Alice Mirante; Jorge M Saraiva; Sergio B Sousa; Raquel Soares;
PUBLISHED: 2018, SOURCE: ANNALS OF NUTRITION AND METABOLISM, VOLUME: 73, ISSUE: 4
INDEXED IN: WOS
6
TITLE: Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency  Full Text
AUTHORS: Janet Pereira; Celeste Bento; Licinio Manco; Ataulfo Gonzalez; Jose Vagace; Maria Leticia Ribeiro;
PUBLISHED: 2016, SOURCE: ANNALS OF HEMATOLOGY, VOLUME: 95, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef
7
TITLE: Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman  Full Text
AUTHORS: Licinio Manco ; Janet Pereira; Luis Relvas; Umbelina Rebel; Ana Isabel Crisostomo; Celeste Bento; Leticia Ribeiro ;
PUBLISHED: 2011, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 46, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
8
TITLE: RhD variant caused by an in-frame triplet duplication in the RHD gene. IN-FRAME TRIPLET DUPLICATION IN RHD  Full Text
AUTHORS: Janet C Pereira; Maria J Rodrigues; Louise Tilley; Joyce Poole; Teresa Chabert; Maria L Ribeiro ;
PUBLISHED: 2011, SOURCE: TRANSFUSION, VOLUME: 51, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 6
9
TITLE: Prenatal determination of the fetal RhD blood group by multiplex PCR: a 7-year Portuguese experience  Full Text
AUTHORS: Janet Carvalho Pereira; Ana Bela Couceiro; Elizabete Maria Cunha; Ana Isabel Machado; Gabriel Pinto Tamagnini; Natalia Prata Martins; Maria Leticia Ribeiro ;
PUBLISHED: 2007, SOURCE: PRENATAL DIAGNOSIS, VOLUME: 27, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef
10
TITLE: Gene symbol: NT5C3. Disease: haemolytic anemia.
AUTHORS: Manco, L ; Pereira, J; Bento, MC; Ribeiro, ML;
PUBLISHED: 2005, SOURCE: Human genetics., VOLUME: 118, ISSUE: 3-4
INDEXED IN: Scopus