Billerbeck AE - Search Results

1

Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency.

Araújo RS, Mendonca BB, Barbosa AS, Lin CJ, Marcondes JA, Billerbeck AE, Bachega TA. Araújo RS, et al. Among authors: billerbeck ae. J Clin Endocrinol Metab. 2007 Oct;92(10):4028-34. doi: 10.1210/jc.2006-2163. Epub 2007 Jul 31. J Clin Endocrinol Metab. 2007. PMID: 17666484

2

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. J Clin Endocrinol Metab. 2002 Sep;87(9):4314-7. doi: 10.1210/jc.2001-011939. J Clin Endocrinol Metab. 2002. PMID: 12213891

3

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: billerbeck ae. J Clin Endocrinol Metab. 2003 Jul;88(7):3027-34. doi: 10.1210/jc.2002-021780. J Clin Endocrinol Metab. 2003. PMID: 12843139

4

A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency.

Correa RV, Domenice S, Bingham NC, Billerbeck AE, Rainey WE, Parker KL, Mendonca BB. Correa RV, et al. Among authors: billerbeck ae. J Clin Endocrinol Metab. 2004 Apr;89(4):1767-72. doi: 10.1210/jc.2003-031240. J Clin Endocrinol Metab. 2004. PMID: 15070943

5

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: billerbeck ae. Clin Endocrinol (Oxf). 2005 Feb;62(2):132-6. doi: 10.1111/j.1365-2265.2005.02184.x. Clin Endocrinol (Oxf). 2005. PMID: 15670187

6

Deletion mapping of chromosome 17 in benign and malignant adrenocortical tumors associated with the Arg337His mutation of the p53 tumor suppressor protein.

Pinto EM, Billerbeck AE, Fragoso MC, Mendonca BB, Latronico AC. Pinto EM, et al. Among authors: billerbeck ae. J Clin Endocrinol Metab. 2005 May;90(5):2976-81. doi: 10.1210/jc.2004-0963. Epub 2005 Mar 1. J Clin Endocrinol Metab. 2005. PMID: 15741269

7

[Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotype correlation].

Bachega TA, Billerbeck AE, Parente EB, Lemos-Marini SH, Baptista MT, Mello MP, Guerra G Jr, Kuperman H, Setian N, Damiani D, Torres N, Castro Md, Mendonça BB. Bachega TA, et al. Among authors: billerbeck ae. Arq Bras Endocrinol Metabol. 2004 Oct;48(5):697-704. doi: 10.1590/s0004-27302004000500016. Epub 2005 Mar 7. Arq Bras Endocrinol Metabol. 2004. PMID: 15761541 Review. Portuguese.

8

The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene.

Rocha RO, Billerbeck AE, Pinto EM, Melo KF, Lin CJ, Longui CA, Mendonca BB, Bachega TA. Rocha RO, et al. Among authors: billerbeck ae. Clin Endocrinol (Oxf). 2008 Feb;68(2):226-32. doi: 10.1111/j.1365-2265.2007.03023.x. Epub 2007 Sep 4. Clin Endocrinol (Oxf). 2008. PMID: 17803691

9

Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.

de Carvalho DF, Miranda MC, Gomes LG, Madureira G, Marcondes JA, Billerbeck AE, Rodrigues AS, Presti PF, Kuperman H, Damiani D, Mendonca BB, Bachega TA. de Carvalho DF, et al. Among authors: billerbeck ae. Eur J Endocrinol. 2016 Aug;175(2):107-16. doi: 10.1530/EJE-16-0171. Epub 2016 May 16. Eur J Endocrinol. 2016. PMID: 27185867

10

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: billerbeck ae. J Clin Endocrinol Metab. 2003 Jul;88(7):3241-50. doi: 10.1210/jc.2002-021658. J Clin Endocrinol Metab. 2003. PMID: 12843171

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