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TITLE: Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort
AUTHORS: Carrico, Josianne Nunes; Goncalves, Catarina Ines; Al Naama, Asma; Syed, Najeeb; Aragues, Jose Maria; Bastos, Margarida; Fonseca, Fernando; Borges, Teresa; Pereira, Bernardo Dias; Pignatelli, Duarte; Carvalho, Davide ; Cunha, Filipe; Saavedra, Ana; Rodrigues, Elisabete; Saraiva, Joana; Ruas, Luisa; Vicente, Nuno; Martins, Joao Martin; De Sousa Lages, Adriana; Oliveira, Maria Joao; Castro Correia, Cintia; Melo, Miguel; Martins, Raquel Gomes ; Couto, Joana; Moreno, Carolina; Martins, Diana; Oliveira, Patricia; Martins, Teresa; Martins, Sofia Almeida; Marques, Olinda; Meireles, Carla; Garrao, Antonio; Nogueira, Claudia; Baptista, Carla; Gama de Sousa, Susana; Amaral, Claudia; Martinho, Mariana; Limbert, Catarina; Barros, Luisa; Vieira, Ines Henriques; Sabino, Teresa; Saraiva, Luis R.; Lemos, Manuel Carlos; ...More
PUBLISHED: 2024, SOURCE: HUMAN REPRODUCTION OPEN, VOLUME: 2024, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef Unpaywall
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TITLE: Palmoplantar pustulosis; [Pustulose palmo-plantar]
AUTHORS: Inês Farinha; Joni Carvalho; Carlos Loureiro; Ana Todo Bom;
PUBLISHED: 2024, SOURCE: Revista Portuguesa de Imunoalergologia, VOLUME: 32, ISSUE: 2
INDEXED IN: Scopus
3
TITLE: Kallmann Syndrome: Functional Analysis of a CHD7 Missense Variant Shows Aberrant RNA Splicing  Full Text
AUTHORS: Carrico, Josianne Nunes; Goncalves, Catarina Ines; Aragues, Jose Maria; Lemos, Manuel Carlos;
PUBLISHED: 2024, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 25, ISSUE: 22
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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TITLE: Regulation of ABC transporters by sex steroids may explain differences in drug resistance between sexes
AUTHORS: Mineiro, Rafael; Santos, Cecilia; Goncalves, Isabel; Lemos, Manuel; Cavaco, Jose Eduardo B.; Quintela, Telma;
PUBLISHED: 2023, SOURCE: JOURNAL OF PHYSIOLOGY AND BIOCHEMISTRY, VOLUME: 79, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 3
IN MY: ORCID
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TITLE: Low frequency of AIP mutations in patients with young-onset sporadic pituitary macroadenomas
AUTHORS: Gaspar, L. M.; Goncalves, C. I.; Saraiva, C.; Cortez, L.; Amaral, C.; Nobre, E.; Lemos, M. C.;
PUBLISHED: 2023, SOURCE: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, VOLUME: 46, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: ORCID
7
TITLE: Maternal Urinary Iodine Concentration during Pregnancy and Its Impact on Child Growth and Neurodevelopment: An 11-Year Follow-Up Study
AUTHORS: Lopes, Carla A.; Duarte, Marta; Prazeres, Susana; Carvalho, Ivone; Vilarinho, Laura; Martinez de Oliveira, Jose; Limbert, Edward; Lemos, Manuel C.;
PUBLISHED: 2023, SOURCE: NUTRIENTS, VOLUME: 15, ISSUE: 20
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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TITLE: Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus
AUTHORS: Selvaraj, S; Rodrigues, D; Krishnamoorthy, N; Fakhro, KA; Saraiva, LR; Lemos, MC;
PUBLISHED: 2022, SOURCE: JOURNAL OF PERSONALIZED MEDICINE, VOLUME: 12, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 3
IN MY: ORCID
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TITLE: Iodine Supplementation in Pregnancy in an Iodine-Deficient Region: A Cross-Sectional Survey
AUTHORS: Lopes, Carla A.; Prazeres, Susana; Martinez de Oliveira, Jose; Limbert, Edward; Lemos, Manuel C.;
PUBLISHED: 2022, SOURCE: NUTRIENTS, VOLUME: 14, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 6
IN MY: ORCID
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TITLE: A Novel FGFR1 Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism
AUTHORS: Fadiga, Lucia; Lavrador, Mariana; Vicente, Nuno; Barros, Luisa; Goncalves, Catarina, I; Al Naama, Asma; Saraiva, Luis R.; Lemos, Manuel C.;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
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