Zobrazeno 1 - 10
of 32
pro vyhledávání: '"B B, Mendonca"'
Autor:
M. Gryngarten, Seraphim Ce, Ortiz-Cabrera Nv, Macedo Db, Ana Paula Abreu, Cunha M, A. C. Latronico, Piovesan Mr, Travieso-Suarez L, Carolina Ramos, V. N. Brito, Soriano-Guillen L, Argente J, de Castro Leal A, Labarta Ji, Antonini, Ursula B. Kaiser, Luciana Ribeiro Montenegro, B. B. Mendonca, Arcari Aj, Escribano Munoz A, Canton Apm, Corripio R, Guimaraes A, Gagliardi Pc, Benedetti Aff
Publikováno v:
Yearbook of Paediatric Endocrinology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ebf1d44790211748c6d3368e2fffd5f
https://doi.org/10.1530/ey.18.7.2
https://doi.org/10.1530/ey.18.7.2
Autor:
A M, Fernandes, M G M, Rocha-Braz, M M, França, A M, Lerario, V R F, Simões, E A, Zanardo, L D, Kulikowski, R M, Martin, B B, Mendonca, B, Ferraz-de-Souza
Publikováno v:
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA. 31(7)
We have sought the molecular diagnosis of OI in 38 Brazilian cases through targeted sequencing of 15 candidate genes. While 71% had type 1 collagen-related OI, defects in FKBP10, PLOD2 and SERPINF1, and a potential digenic P3H1/WNT1 interaction were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::029c50aa1fdb5ca3841153701b130f5c
https://pubmed.ncbi.nlm.nih.gov/32123938
https://pubmed.ncbi.nlm.nih.gov/32123938
Autor:
L C, Kaupert, S H V, Lemos-Marini, M P, De Mello, R P, Moreira, V N, Brito, A A L, Jorge, C A, Longui, G, Guerra, B B, Mendonca, T A, Bachega
Publikováno v:
Clinical genetics. 84(5)
The 21-hydroxylase deficiency (21OHD) is caused by CYP21A2 mutations resulting in severe or moderate enzymatic impairments. 21OHD females carrying similar genotypes present different degrees of external genitalia virilization, suggesting the influenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b27b4a4c5b144b118e04e4da302fbc1f
https://pubmed.ncbi.nlm.nih.gov/22978668
https://pubmed.ncbi.nlm.nih.gov/22978668
Autor:
L C Kaupert, R P P Moreira, M P de Mello, S H V Lemos-Marini, G Guerra-Junior, V N Brito, L G Gomes, M de Castro, B B Mendonca, T A S S Bachega
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3a3abcc8ddf487cd2075f5190e4388dd
https://doi.org/10.1210/endo-meetings.2010.part1.p13.p1-651
https://doi.org/10.1210/endo-meetings.2010.part1.p13.p1-651
Autor:
S R R, Antonini, A C, Latronico, L L K, Elias, A, Cukiert, H R, Machado, B, Liberman, B B, Mendonca, A C, Moreira, M, Castro
Publikováno v:
Clinical endocrinology. 57(5)
The inhibitory action of glucocorticoids on the hypothalamic-pituitary axis is disrupted in ACTH-secreting pituitary tumours. The molecular events leading to the development of these tumours and their relative resistance to glucocorticoids are unknow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d78eae46cfd05a572dead61dddc72217
https://pubmed.ncbi.nlm.nih.gov/12390341
https://pubmed.ncbi.nlm.nih.gov/12390341
Publikováno v:
The Journal of clinical endocrinology and metabolism. 86(6)
Several point mutations in the GnRH receptor gene have been described in an autosomal recessive form of congenital isolated hypogonadotropic hypogonadism (HH). We investigated 17 Brazilian patients (10 males and 7 females) from 14 different families,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5278e15da9364126ee72625b5f3c134b
https://pubmed.ncbi.nlm.nih.gov/11397871
https://pubmed.ncbi.nlm.nih.gov/11397871