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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
Could the leukocyte x chromosome inactivation pattern be extrapolated to hair bulbs?
Kaupert LC, Billerbeck AE, Brito VN, Mendonca BB, Bachega TA. Kaupert LC, et al. Among authors: billerbeck ae. Horm Res Paediatr. 2010;73(4):238-43. doi: 10.1159/000284387. Epub 2010 Mar 9. Horm Res Paediatr. 2010. PMID: 20215769
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
[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.
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
[Androgen insensitivity syndrome: clinical, hormonal and molecular analysis of 33 cases].
Melo KF, Mendonça BB, Billerbeck AE, Costa EM, Latronico AC, Arnhold IJ. Melo KF, et al. Among authors: billerbeck ae. Arq Bras Endocrinol Metabol. 2005 Feb;49(1):87-97. doi: 10.1590/s0004-27302005000100012. Epub 2006 Mar 16. Arq Bras Endocrinol Metabol. 2005. PMID: 16544039 Portuguese.
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
Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors.
Pinto EM, Billerbeck AE, Villares MC, Domenice S, Mendonça BB, Latronico AC. Pinto EM, et al. Among authors: billerbeck ae. Arq Bras Endocrinol Metabol. 2004 Oct;48(5):647-50. doi: 10.1590/s0004-27302004000500009. Epub 2005 Mar 7. Arq Bras Endocrinol Metabol. 2004. PMID: 15761534
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: billerbeck ae. 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.
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
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