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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. 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
An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors.
Latronico AC, Pinto EM, Domenice S, Fragoso MC, Martin RM, Zerbini MC, Lucon AM, Mendonca BB. Latronico AC, et al. Among authors: pinto em. J Clin Endocrinol Metab. 2001 Oct;86(10):4970-3. doi: 10.1210/jcem.86.10.7957. J Clin Endocrinol Metab. 2001. PMID: 11600572
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: pinto em. J Clin Endocrinol Metab. 2002 Sep;87(9):4314-7. doi: 10.1210/jc.2001-011939. J Clin Endocrinol Metab. 2002. PMID: 12213891
Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocious puberty.
Latronico AC, Billerbeck AE, Pinto EM, Brazil D'Alva C, Arnhold IJ, Mendonca BB. Latronico AC, et al. Among authors: pinto em. Clin Endocrinol (Oxf). 2003 Oct;59(4):533-4. doi: 10.1046/j.1365-2265.2003.01810.x. Clin Endocrinol (Oxf). 2003. PMID: 14510919 No abstract available.
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. 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
Evaluating the roles of follicle-stimulating hormone receptor polymorphisms in gonadal hyperstimulation associated with severe juvenile primary hypothyroidism.
Ryan GL, Feng X, d'Alva CB, Zhang M, Van Voorhis BJ, Pinto EM, Kubias AE, Antonini SR, Latronico AC, Segaloff DL. Ryan GL, et al. Among authors: pinto em. J Clin Endocrinol Metab. 2007 Jun;92(6):2312-7. doi: 10.1210/jc.2006-2086. Epub 2007 Mar 13. J Clin Endocrinol Metab. 2007. PMID: 17356048
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: pinto em. 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
[Molecular aspects of pituitary tumorigenesis].
Pinto EM, Bronstein MD. Pinto EM, et al. Arq Bras Endocrinol Metabol. 2008 Jun;52(4):599-610. doi: 10.1590/s0004-27302008000400005. Arq Bras Endocrinol Metabol. 2008. PMID: 18604372 Review. Portuguese.
[Absence of PRKAR1A loss of heterozygosity in laser-captured microdissected pigmented nodular adrenocortical tissue from a patient with Carney complex caused by the novel nonsense mutation p.Y21X].
Almeida MQ, Brito LP, Domenice S, Costa MH, Pinto EM, Osório CA, Latronico AC, Mendonca BB, Fragoso MC. Almeida MQ, et al. Among authors: pinto em. Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1257-63. doi: 10.1590/s0004-27302008000800009. Arq Bras Endocrinol Metabol. 2008. PMID: 19169478 Portuguese.
Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA).
Funari MF, Jorge AA, Pinto EM, Arnhold IJ, Mendonca BB, Nishi MY. Funari MF, et al. Among authors: pinto em. Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1382-7. doi: 10.1590/s0004-27302008000800029. Arq Bras Endocrinol Metabol. 2008. PMID: 19169498
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