Mendonca BB - Search Results

1

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.

Correa FA, Jorge AA, Nakaguma M, Canton AP, Costa SS, Funari MF, Lerario AM, Franca MM, Carvalho LR, Krepischi AC, Arnhold IJ, Rosenberg C, Mendonca BB. Correa FA, et al. Among authors: mendonca bb. Clin Endocrinol (Oxf). 2018 Mar;88(3):425-431. doi: 10.1111/cen.13535. Epub 2018 Jan 10. Clin Endocrinol (Oxf). 2018. PMID: 29265571

2

Poor reproducibility of IGF-I and IGF binding protein-3 generation test in children with short stature and normal coding region of the GH receptor gene.

Jorge AA, Souza SC, Arnhold IJ, Mendonca BB. Jorge AA, et al. Among authors: mendonca bb. J Clin Endocrinol Metab. 2002 Feb;87(2):469-72. doi: 10.1210/jcem.87.2.8191. J Clin Endocrinol Metab. 2002. PMID: 11836270

3

Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations.

Bachega TA, Brenlha EM, Billerbeck AE, Marcondes JA, Madureira G, Arnhold IJ, Mendonca BB. Bachega TA, et al. Among authors: mendonca bb. J Clin Endocrinol Metab. 2002 Feb;87(2):786-90. doi: 10.1210/jcem.87.2.8247. J Clin Endocrinol Metab. 2002. PMID: 11836321

4

Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene.

Mendonca BB, Leite MV, de Castro M, Kino T, Elias LL, Bachega TA, Arnhold IJ, Chrousos GP, Latronico AC. Mendonca BB, et al. J Clin Endocrinol Metab. 2002 Apr;87(4):1805-9. doi: 10.1210/jcem.87.4.8379. J Clin Endocrinol Metab. 2002. PMID: 11932321

5

An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.

Melo KF, Martin RM, Costa EM, Carvalho FM, Jorge AA, Arnhold IJ, Mendonca BB. Melo KF, et al. Among authors: mendonca bb. J Clin Endocrinol Metab. 2002 Jun;87(6):2500-5. doi: 10.1210/jcem.87.6.8521. J Clin Endocrinol Metab. 2002. PMID: 12050205 Review.

6

Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect.

Billerbeck AE, Mendonca BB, Pinto EM, Madureira G, Arnhold IJ, Bachega TA. Billerbeck AE, et al. Among authors: mendonca bb. J Clin Endocrinol Metab. 2002 Sep;87(9):4314-7. doi: 10.1210/jc.2001-011939. J Clin Endocrinol Metab. 2002. PMID: 12213891

7

Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.

Osorio MG, Marui S, Jorge AA, Latronico AC, Lo LS, Leite CC, Estefan V, Mendonca BB, Arnhold IJ. Osorio MG, et al. Among authors: mendonca bb. J Clin Endocrinol Metab. 2002 Nov;87(11):5076-84. doi: 10.1210/jc.2001-011936. J Clin Endocrinol Metab. 2002. PMID: 12414875

8

GH values after clonidine stimulation measured by immunofluorometric assay in normal prepubertal children and GH-deficient patients.

Silva EG, Slhessarenko N, Arnhold IJ, Batista MC, Estefan V, Osorio MG, Marui S, Mendonca BB. Silva EG, et al. Among authors: mendonca bb. Horm Res. 2003;59(5):229-33. doi: 10.1159/000070222. Horm Res. 2003. PMID: 12714786 Clinical Trial.

9

Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene.

Melo KF, Mendonca BB, Billerbeck AE, Costa EM, Inácio M, Silva FA, Leal AM, Latronico AC, Arnhold IJ. Melo KF, et al. Among authors: mendonca bb. J Clin Endocrinol Metab. 2003 Jul;88(7):3241-50. doi: 10.1210/jc.2002-021658. J Clin Endocrinol Metab. 2003. PMID: 12843171

10

A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.

Carvalho LR, Woods KS, Mendonca BB, Marcal N, Zamparini AL, Stifani S, Brickman JM, Arnhold IJ, Dattani MT. Carvalho LR, et al. Among authors: mendonca bb. J Clin Invest. 2003 Oct;112(8):1192-201. doi: 10.1172/JCI18589. J Clin Invest. 2003. PMID: 14561704 Free PMC article.

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