2 documents found, page 1 of 1
Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and H...
Alvelos, Maria I.; Gonçalves, Catarina I.; Coutinho, Eduarda; Almeida, Joana T.; Bastos, Margarida; Sampaio, Maria L.; Melo, Miguel; Martins, SofiaMaturity-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 the GCK (MODY 2), HNF1A (MODY 3), and HNF4A (MODY 1) genes. We undertook the first multicenter genetic study of MODY in the Portuguese population. The GCK, HNF1A, and...
X-linked Adrenal Hypoplasia Congenita: report of two families and a new NR0B1 m...
Pereira, Bernardo D.; Nunes, Tiago S.; Luiz, Henrique V.; Veloza, Andreia; Matos, Catarina; Cordeiro, Maria C.; Gonçalves, João; Raimundo, LuísaBackground: X-linked Adrenal Hypoplasia Congenita (X-linked AHC) tipically manifests as adrenal insufficiency in a bimodal clinical presentation (5–60 days and 2–13 years) and, at pubertal age, hypogonadotropic hypogonadism (HH) in males. It is caused by mutations in NR0B1 (present in Xp21.2), a gene with a critical role in the development of adrenals and hypothalamic-pituitary-gonadal (HPG) axis. It represents...