1
TITLE: Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses
AUTHORS: Mannisto, Jonna M. E.; Hopkins, Jasmin J.; Hewat, Thomas, I; Nasser, Fatima; Burrage, Joseph; Dastamani, Antonia; Mirante, Alice; Murphy, Nuala; Rzasa, Jessica; Kerkhof, Jennifer; Relator, Raissa; Johnson, Matthew B.; Laver, Thomas W.; Weymouth, Luke; Houghton, Jayne A. L.; Wakeling, Matthew N.; Sadikovic, Bekim; Dempster, Emma L.; Flanagan, Sarah E.;
PUBLISHED: 2024, SOURCE: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, VOLUME: 110, ISSUE: 5
INDEXED IN: Scopus WOS
2
TITLE: Differentiated Thyroid Cancer in Children and Adolescents: 12-year Experience in a Single Center  Full Text
AUTHORS: Puga, Francisca Marques; Correia, Laura; Vieira, Ines; Caetano, Joana Serra; Cardoso, Rita; Dinis, Isabel; Mirante, Alice;
PUBLISHED: 2024, SOURCE: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, VOLUME: 16, ISSUE: 3
INDEXED IN: Scopus WOS
3
TITLE: Improving molecular diagnosis of sexual development disorders with a gene panel strategy
AUTHORS: Caetano, Iris Pereira; Mendonca, Joana; Mirante, Alice; Cardoso, Rita; Rodrigues, Marcia; Oliveira, JP; Grangeia, Ana; Barbosa, David; Vieira, Luis; Goncalves, Joao;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
INDEXED IN: WOS
4
TITLE: Rare Coexistence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency and Turner Syndrome: A Case Report and Brief Literature Review  Full Text
AUTHORS: Inacio, Isabel; Serra Caetano, Joana; Cardoso, Rita; Dinis, Isabel; Mirante, Alice;
PUBLISHED: 2023, SOURCE: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, VOLUME: 15, ISSUE: 1
INDEXED IN: WOS
5
TITLE: Congenital adrenal hyperplasia in adolescence — a gynecological perspective
AUTHORS: Oliveira, JC; Sousa, FC; Campos, ST; Geraldes, FB; Belo, JL; Leite, MH; Mirante, MA; Aguas, MF;
PUBLISHED: 2023, SOURCE: Ginekologia Polska, VOLUME: 94, ISSUE: 3
INDEXED IN: Scopus
6
TITLE: Early Diagnosis of 46,XX Testicular Difference of Sexual Development: Unusual Presentation with Increased Nuchal Translucency  Full Text
AUTHORS: Saraiva, Miguel; Santos, Vera M. F.; Ramos, Lina; Ramos, Fabiana; Serra Caetano, Joana; Cardoso, Rita; Dinis, Isabel; Mirante, Alice;
PUBLISHED: 2023, SOURCE: FETAL AND PEDIATRIC PATHOLOGY
INDEXED IN: Scopus WOS
7
TITLE: Type 1 diabetes in the covid pandemic: what changed?
AUTHORS: Diogo, Rui; Rua, Ines; Cardoso, Rita; Dinis, Isabel; Mirante, Alice; Serra Caetano, Joana;
PUBLISHED: 2023, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 96
INDEXED IN: WOS
8
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
9
TITLE: Autoimmune Primary Adrenal Insufficiency in Children  Full Text
AUTHORS: Bala, Nadia Mourinho; Goncalves, Raquel S.; Caetano, Joana Serra; Cardoso, Rita; Dinis, Isabel; Mirante, Alice;
PUBLISHED: 2022, SOURCE: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, VOLUME: 14, ISSUE: 3
INDEXED IN: Scopus WOS
10
TITLE: Hyperthyroidism in McCune-Albright Syndrome - a case report
AUTHORS: Rosinha, Patricia; Ramalho, Diogo; Rodrigues, Orlando; Sousa, Sergio; Alves, Cristina; Lopes, Joana; Caetano, Joana Serra; Mirante, Alice;
PUBLISHED: 2022, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
INDEXED IN: Scopus WOS
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