Mendonca BB - Search Results

1

Evaluation of SHOX defects in the era of next-generation sequencing.

Funari MFA, de Barros JS, Santana LS, Lerario AM, Freire BL, Homma TK, Vasques GA, Mendonca BB, Nishi MY, Jorge AAL. Funari MFA, et al. Among authors: mendonca bb. Clin Genet. 2019 Sep;96(3):261-265. doi: 10.1111/cge.13587. Epub 2019 Jul 4. Clin Genet. 2019. PMID: 31219618 Free article.

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

Detection of Y-specific sequences in 122 patients with Turner syndrome: nested PCR is not a reliable method.

Nishi MY, Domenice S, Medeiros MA, Mendonca BB, Billerbeck AE. Nishi MY, et al. Among authors: mendonca bb. Am J Med Genet. 2002 Feb 1;107(4):299-305. doi: 10.1002/ajmg.10168. Am J Med Genet. 2002. PMID: 11840486 Clinical Trial.

4

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.

5

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

6

Familial hyperestrogenism in both sexes: clinical, hormonal, and molecular studies of two siblings.

Martin RM, Lin CJ, Nishi MY, Billerbeck AE, Latronico AC, Russell DW, Mendonca BB. Martin RM, et al. Among authors: mendonca bb. J Clin Endocrinol Metab. 2003 Jul;88(7):3027-34. doi: 10.1210/jc.2002-021780. J Clin Endocrinol Metab. 2003. PMID: 12843139

7

The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration.

Jorge AA, Souza SC, Arnhold IJ, Mendonca BB. Jorge AA, et al. Among authors: mendonca bb. Clin Endocrinol (Oxf). 2004 Jan;60(1):36-40. doi: 10.1111/j.1365-2265.2004.01930.x. Clin Endocrinol (Oxf). 2004. PMID: 14678285

8

Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation.

Araujo RS, Billerbeck AE, Madureira G, Mendonca BB, Bachega TA. Araujo RS, et al. Among authors: mendonca bb. Clin Endocrinol (Oxf). 2005 Feb;62(2):132-6. doi: 10.1111/j.1365-2265.2005.02184.x. Clin Endocrinol (Oxf). 2005. PMID: 15670187

9

PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.

Ferreira LV, Souza SA, Arnhold IJ, Mendonca BB, Jorge AA. Ferreira LV, et al. Among authors: mendonca bb. J Clin Endocrinol Metab. 2005 Sep;90(9):5156-60. doi: 10.1210/jc.2004-2559. Epub 2005 Jun 14. J Clin Endocrinol Metab. 2005. PMID: 15956085

10

Growth hormone (GH) pharmacogenetics: influence of GH receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe GH deficiency.

Jorge AA, Marchisotti FG, Montenegro LR, Carvalho LR, Mendonca BB, Arnhold IJ. Jorge AA, et al. Among authors: mendonca bb. J Clin Endocrinol Metab. 2006 Mar;91(3):1076-80. doi: 10.1210/jc.2005-2005. Epub 2005 Nov 15. J Clin Endocrinol Metab. 2006. PMID: 16291702

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