Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Catarina I Gonçalves"'
Autor:
Catarina I Gonçalves, José M Aragüés, Margarida Bastos, Luísa Barros, Nuno Vicente, Davide Carvalho, Manuel C Lemos
Publikováno v:
Endocrine Connections, Vol 6, Iss 6, Pp 360-366 (2017)
Objective: Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare disorder characterised by lack of pubertal development and infertility, due to deficient production, secretion or action of gonadotropin-releasing hormone (GnRH) and, unli
Externí odkaz:
https://doaj.org/article/ac7a1320332e47e8a7d99426fa0e66e1
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
The HDR syndrome is a rare autosomal dominant disorder characterised by Hypoparathyroidism, Deafness, and Renal dysplasia, and is caused by inactivating heterozygous germline mutations in the GATA3 gene. We report an 11-year-old girl with HDR syndrom
Externí odkaz:
https://doaj.org/article/a7df735ee3134e86aeb39bef34d0f5f8
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 17, p 10026 (2022)
The 17-beta-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) enzyme converts androstenedione to testosterone and is encoded by the HSD17B3 gene. Homozygous or compound heterozygous HSD17B3 mutations block the synthesis of testosterone in the fetal te
Externí odkaz:
https://doaj.org/article/6b671db6354749cf978ebc7110c735b6
Autor:
Eugénio Diogo, Ana Catarina Silva, Helena Bragança, Alan J. L. Phillips, Carlos Valente, Catarina I. Gonçalves
Publikováno v:
Mycological Progress. 20:1441-1456
Eucalyptus globulus, an exotic species in Portugal, is one of the dominant and intensively managed forest species in the country. A disease syndrome characterised by leaf necrosis, stem girdling and cutting dieback in eucalyptus and associated with p
Autor:
Leonor M. Gaspar, Catarina I. Gonçalves, Fernando Fonseca, Davide Carvalho, Luísa Cortez, Ana Palha, Inês F. Barros, Ema Nobre, João S. Duarte, Cláudia Amaral, Maria J. Bugalho, Olinda Marques, Bernardo D. Pereira, Manuel C. Lemos
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 19; Pages: 11749
The majority of pituitary adenomas occur in a sporadic context, and in the absence of known genetic predisposition. Three common variants at the NEBL (rs2359536), PCDH15 (rs10763170) and CDK8 (rs17083838) loci were previously associated with sporadic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79a95929c799cd20e91b69edc4e25e15
https://hdl.handle.net/10400.17/4404
https://hdl.handle.net/10400.17/4404
Autor:
Leonor M, Gaspar, Catarina I, Gonçalves, Fernando, Fonseca, Davide, Carvalho, Luísa, Cortez, Ana, Palha, Inês F, Barros, Ema, Nobre, João S, Duarte, Cláudia, Amaral, Maria J, Bugalho, Olinda, Marques, Bernardo D, Pereira, Manuel C, Lemos
Publikováno v:
International journal of molecular sciences. 23(19)
The majority of pituitary adenomas occur in a sporadic context, and in the absence of known genetic predisposition. Three common variants at the
Autor:
Isabel S. Carvalho, Catarina I. Gonçalves, Joana T. Almeida, Teresa Azevedo, Teresa Martins, Fernando J. Rodrigues, Manuel C. Lemos
Publikováno v:
Genes, Vol 10, Iss 8, p 572 (2019)
Vitamin D is mostly known for its role in bone and calcium metabolism. However, studies have suggested that it also has inhibitory effects on tumor development and progression. Genetic variants close to genes that encode crucial enzymes for the synth
Externí odkaz:
https://doaj.org/article/6ed819a85d5b4c7e82153ed6c7a0b1a5
Publikováno v:
Biological Control. 130:80-87
The Eucalyptus snout beetle, Gonipterus platensis (Marelli), is an important pest of Eucalyptus globulus Labill. This insect is partially controlled by the egg parasitoid Anaphes nitens (Girault) in many regions, but the introduction of additional na
A Novel FGFR1 Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism
Autor:
Lúcia Fadiga, Mariana Lavrador, Nuno Vicente, Luísa Barros, Catarina I. Gonçalves, Asma Al-Naama, Luis R. Saraiva, Manuel C. Lemos
Publikováno v:
International Journal of Molecular Sciences. 23:4423
Congenital hypogonadotropic hypogonadism (CHH) is a rare reproductive endocrine disorder characterized by complete or partial failure of pubertal development and infertility due to deficiency of the gonadotropin-releasing hormone (GnRH). CHH has a si
Autor:
Catarina I Gonçalves, Leonor Gomes, Joana T Almeida, Carla Baptista, Daniela Guelho, Miguel Melo, Isabel Dinis, Maria Manuela Estima Gomes, Joana Saraiva, Manuel C. Lemos, Maria Inês Alvelos, Sofia Martins, Luísa Barros, Diana Martins, Alice Mirante, Margarida Bastos, Carolina Moreno, Eduarda Coutinho, Mara Ventura, Maria L Sampaio, Bernardo Dias Pereira, Susana Gama-de-Sousa
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 1, p 288 (2020)
Journal of Clinical Medicine
Volume 9
Issue 1
Journal of Clinical Medicine
Volume 9
Issue 1
Maturity-onset diabetes of the young (MODY) is a frequently misdiagnosed type of diabetes, which is characterized by early onset, autosomal dominant inheritance, and absence of insulin dependence. The most frequent subtypes are due to mutations of th