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Registros recuperados: 3
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21-Hydroxylase deficiency in Brazil BJMBR
Bachega,T.A.S.S.; Billerbeck,A.E.C.; Madureira,G.; Marcondes,J.A.M.; Longui,C.A.; Leite,M.V.; Arnhold,I.J.P.; Mendonça,B.B..
We determined the frequency of large rearrangements and point mutations in 130 Brazilian patients with 21-hydroxylase deficiency and correlated genotype with phenotype. The frequency of CYP21 deletions was lower (4.4%) than in most of the previous series described, whereas the frequency of large gene conversions was similar to the frequency reported in the literature (6.6%). The most frequent point mutations were I2 splice (41.8% in salt wasting - SW), I172N (32.6% in simple virilizing - SV) and V281L (40.2% in the late onset form - LO). The frequency of the nine most common point mutations was similar to that reported for other countries. The 93 fully genotyped patients were classified into 3 mutation groups based on the degree of enzymatic activity...
Tipo: Info:eu-repo/semantics/article Palavras-chave: 21-hydroxylase deficiency; Congenital adrenal hyperplasia; Brazilian patients; CYP21 mutations; Genotype; Phenotype.
Ano: 2000 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001000011
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Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions BJMBR
Arnhold,I.J.P.; Osorio,M.G.F.; Oliveira,S.B.; Estefan,V.; Kamijo,T.; Krishnamani,M.R.S.; Cogan,J.D.; Phillips III,J.A.; Mendonça,B.B..
Genomic DNA from 23 patients with isolated growth hormone (GH) deficiency (12 males and 11 females: heights -4.9 ± 1.4 SDS) was screened for GH gene deletions by restriction endonuclease analysis of polymerase chain reaction amplification products. Three unrelated patients had typical features of severe GH deficiency and deletions (6.7 kb in two and 7.6 kb in one) of the GH gene. The two patients with 6.7-kb deletions developed growth-attenuating anti-GH antibodies whereas the patient with the 7.6-kb deletion continued to grow with GH replacement therapy. Our finding that 3/23 (~13%) Brazilian subjects had GH gene deletions agrees with previous studies of severe isolated GH deficiency subjects in other populations. Two of three subjects (67%) with...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Growth; Growth hormone; Dwarfism; Gene.
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000400003
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Germline mutation analysis of Tpit in Poodle dogs with ACTH-dependent hyperadrenocorticism Arq. Bras. Med. Vet. Zootec.
De Marco,V.; Carvalho,L.R.; Billerbeck,A.E.C.; Mendonça,B.B..
There is a high incidence of pituitary-dependent hyperadrenocorticism (PDH) in Poodle dogs, with family members being affected by the disease, suggesting a genetic involvement. Tpit is an obligate transcription factor for the expression of pro-opiomelanocortingene and for corticotroph terminal differentiation. The aim of the present study was to screen the Tpit gene for germline mutations in Poodles with PDH. Fifty Poodle dogs (33 female, 8.71±2.8 years) with PDH and 50 healthy Poodle dogs (32 females, 9.4241 2.8 years) were studied. Genomic DNA was isolated from peripheral blood, amplified by PCR and submitted to automatic sequence. No mutation in the coding region of Tpit was found, whereas the new single nucleotide polymorphism p.S343G, in heterozygous...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Dog; ACTH-dependent hyperadrenocorticism; Tpit; Mutation.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352012000400010
Registros recuperados: 3
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