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Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.
Abrão MG, Leite MV, Carvalho LR, Billerbeck AE, Nishi MY, Barbosa AS, Martin RM, Arnhold IJ, Mendonca BB. Abrão MG, et al. Among authors: billerbeck ae. Clin Endocrinol (Oxf). 2006 Sep;65(3):294-300. doi: 10.1111/j.1365-2265.2006.02592.x. Clin Endocrinol (Oxf). 2006. PMID: 16918947 Review.
Usefulness of MLPA in the detection of SHOX deletions.
Funari MF, Jorge AA, Souza SC, Billerbeck AE, Arnhold IJ, Mendonca BB, Nishi MY. Funari MF, et al. Among authors: billerbeck ae. Eur J Med Genet. 2010 Sep-Oct;53(5):234-8. doi: 10.1016/j.ejmg.2010.06.001. Epub 2010 Jun 9. Eur J Med Genet. 2010. PMID: 20538086 Free article.
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
Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age.
Coletta RR, Jorge AA, D'Alva CB, Pinto EM, Billerbeck AE, Pachi PR, Longui CA, Garcia RM, Boguszewski M, Arnhold IJ, Mendonca BB, Costa EM. Coletta RR, et al. Among authors: billerbeck ae. Clinics (Sao Paulo). 2013 Jun;68(6):785-91. doi: 10.6061/clinics/2013(06)10. Clinics (Sao Paulo). 2013. PMID: 23778474 Free PMC article.
55 results