1 - 25 of 74 results for author:"Mendonca B.B." in Literature citations
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| DSD due to 5alpha-reductase 2 deficiency - from diagnosis to long term outcome. Costa E.M., Domenice S., Sircili M.H., Inacio M., Mendonca B.B. Semin. Reprod. Med. 30:427-431(2012) · Mapped (1) |
| Impact of glucocorticoid receptor gene polymorphisms on the metabolic profile of adult patients with the classical form of 21-hydroxylase deficiency. Moreira R.P., Gomes L.G., Mendonca B.B., Bachega T.A. PLoS ONE 7:e44893-e44893(2012) · Mapped (12) |
| Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis. Machado A.Z., da Silva T.E., Frade Costa E.M., Dos Santos M.G., Nishi M.Y., Brito V.N., Mendonca B.B., Domenice S. Eur J Med Genet 55:690-694(2012) · Mapped (2) |
| The interactive effect of GHR-exon 3 and -202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner syndrome. Braz A.F., Costalonga E.F., Montenegro L.R., Trarbach E.B., Antonini S.R., Malaquias A.C., Ramos E.S., Mendonca B.B., Arnhold I.J., Jorge A.A. J. Clin. Endocrinol. Metab. 97:E671-7(2012) · Mapped (21) |
| The role of fibroblast growth factor receptor 4 overexpression and gene amplification as prognostic markers in pediatric and adult adrenocortical tumors. Brito L.P., Ribeiro T.C., Almeida M.Q., Jorge A.A., Soares I.C., Latronico A.C., Mendonca B.B., Fragoso M.C., Lerario A.M. Endocr. Relat. Cancer 19:L11-3(2012) · Mapped (11) |
| PROP1 and CTNNB1 expression in adamantinomatous craniopharyngiomas with or without beta-catenin mutations. Cani C.M., Matushita H., Carvalho L.R., Soares I.C., Brito L.P., Almeida M.Q., Mendonca B.B. Clinics (Sao Paulo) 66:1849-1854(2011) · Mapped (1) |
| Combined expression of BUB1B, DLGAP5, and PINK1 as predictors of poor outcome in adrenocortical tumors: validation in a Brazilian cohort of adult and pediatric patients. Fragoso M.C., Almeida M.Q., Mazzuco T.L., Mariani B.M., Brito L.P., Goncalves T.C., Alencar G.A., Lima L.d.e. O., Faria A.M., Bourdeau I. et al. Eur. J. Endocrinol. 166:61-67(2012) · Mapped (4) |
| Frequency of genetic polymorphisms of PXR gene in the Brazilian population. Moreira R.P., Jorge A.A., Mendonca B.B., Bachega T.A. Clinics (Sao Paulo) 66:1041-1044(2011) · Mapped (8) |
| Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency. Franca M.M., Jorge A.A., Alatzoglou K.S., Carvalho L.R., Mendonca B.B., Audi L., Carrascosa A., Dattani M.T., Arnhold I.J. J. Clin. Endocrinol. Metab. 96:E1457-60(2011) · Mapped (1) |
| Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty. Pugliese-Pires P.N., Fortin J.P., Arthur T., Latronico A.C., Mendonca B.B., Villares S.M., Arnhold I.J., Kopin A.S., Jorge A.A. Eur. J. Endocrinol. 165:233-241(2011) · Mapped (1) |
| Mutational analysis of the necdin gene in patients with congenital isolated hypogonadotropic hypogonadism. Beneduzzi D., Iyer A.K., Trarbach E.B., Silveira-Neto A.P., Silveira L.G., Tusset C., Yip K., Mendonca B.B., Mellon P.L., Latronico A.C. Eur. J. Endocrinol. 165:145-150(2011) · UniProtKB (1) |
| Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment. Jorge A.A., Funari M.F., Nishi M.Y., Mendonca B.B. Pediatr Endocrinol Rev 8:79-85(2010) · Mapped (2) |
| The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants. Nishi M.Y., Costa E.M., Oliveira S.B., Mendonca B.B., Domenice S. Horm Res Paediatr 75:26-31(2011) · Mapped (19) |
| Influence of the fibroblast growth factor receptor 4 expression and the G388R functional polymorphism on Cushing's disease outcome. Brito L.P., Lerario A.M., Bronstein M.D., Soares I.C., Mendonca B.B., Fragoso M.C. J. Clin. Endocrinol. Metab. 95:E271-9(2010) · Mapped (11) |
| Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency. Trarbach E.B., Abreu A.P., Silveira L.F., Garmes H.M., Baptista M.T., Teles M.G., Costa E.M., Mohammadi M., Pitteloud N., Mendonca B.B. et al. J. Clin. Endocrinol. Metab. 95:3491-3496(2010) · Mapped (2) |
| A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism. Teles M.G., Trarbach E.B., Noel S.D., Guerra-Junior G., Jorge A., Beneduzzi D., Bianco S.D., Mukherjee A., Baptista M.T., Costa E.M. et al. Eur. J. Endocrinol. 163:29-34(2010) · Mapped (1) |
| TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. Gianetti E., Tusset C., Noel S.D., Au M.G., Dwyer A.A., Hughes V.A., Abreu A.P., Carroll J., Trarbach E., Silveira L.F. et al. J. Clin. Endocrinol. Metab. 95:2857-2867(2010) · Mapped (3) |
| Mutations of the KISS1 gene in disorders of puberty. Silveira L.G., Noel S.D., Silveira-Neto A.P., Abreu A.P., Brito V.N., Santos M.G., Bianco S.D., Kuohung W., Xu S., Gryngarten M. et al. J. Clin. Endocrinol. Metab. 95:2276-2280(2010) · Mapped (2) |
| Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults. Almeida M.Q., Soares I.C., Ribeiro T.C., Fragoso M.C., Marins L.V., Wakamatsu A., Ressio R.A., Nishi M.Y., Jorge A.A., Lerario A.M. et al. J. Clin. Endocrinol. Metab. 95:1458-1462(2010) · Mapped (6) |
| Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes. Davis S.W., Castinetti F., Carvalho L.R., Ellsworth B.S., Potok M.A., Lyons R.H., Brinkmeier M.L., Raetzman L.T., Carninci P., Mortensen A.H. et al. Mol. Cell. Endocrinol. 323:4-19(2010) · Mapped (16) |
| Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia. Silveira E.L., Elnecave R.H., dos Santos E.P., Moura V., Pinto E.M., van der Linden Nader I., Mendonca B.B., Bachega T.A. Clin. Genet. 76:503-510(2009) · Mapped (33) |
| Novel mutations in CYP11B1 gene leading to 11 beta-hydroxylase deficiency in Brazilian patients. Soardi F.C., Penachioni J.Y., Justo G.Z., Bachega T.A., Inacio M., Mendonca B.B., de Castro M., de Mello M.P. J. Clin. Endocrinol. Metab. 94:3481-3485(2009) · Mapped (7) |
| Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1. Trarbach E.B., Teles M.G., Costa E.M., Abreu A.P., Garmes H.M., Guerra G. Jr., Baptista M.T., de Castro M., Mendonca B.B., Latronico A.C. Clin. Endocrinol. (Oxf) 72:371-376(2010) · Mapped (12) |
| The -202 A allele of insulin-like growth factor binding protein-3 (IGFBP3) promoter polymorphism is associated with higher IGFBP-3 serum levels and better growth response to growth hormone treatment in patients with severe growth hormone deficiency. Costalonga E.F., Antonini S.R., Guerra-Junior G., Mendonca B.B., Arnhold I.J., Jorge A.A. J. Clin. Endocrinol. Metab. 94:588-595(2009) · Mapped (17) |
| Expression profiles of the glucose-dependent insulinotropic peptide receptor and LHCGR in sporadic adrenocortical tumors. Costa M.H., Latronico A.C., Martin R.M., Barbosa A.S., Almeida M.Q., Lotfi C.F., Valassi H.P., Nishi M.Y., Lucon A.M., Siqueira S.A. et al. J. Endocrinol. 200:167-175(2009) · Mapped (3) |