Domenice S - Search Results

1

A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant.

Gomes NL, de Paula LCP, Silva JM, Silva TE, Lerário AM, Nishi MY, Batista RL, Faria Júnior JAD, Moraes D, Costa EMF, Hemesath TP, Guaragna-Filho G, Leite JCL, Carvalho CG, Domenice S, Costa EC, Mendonca BB. Gomes NL, et al. Among authors: domenice s. Clin Genet. 2019 Jan;95(1):172-176. doi: 10.1111/cge.13459. Epub 2018 Oct 28. Clin Genet. 2019. PMID: 30294972 Free article.

2

Long-acting gonadotropin-releasing hormone agonists in the differential diagnosis of male precocious puberty.

Albano MC, Latronico AC, Arnhold IJ, Domenice S, Bloise W, Mendonca BB. Albano MC, et al. Among authors: domenice s. J Pediatr Endocrinol Metab. 1997 Sep-Oct;10(5):499-503. doi: 10.1515/jpem.1997.10.5.499. J Pediatr Endocrinol Metab. 1997. PMID: 9401906

3

A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives.

Domenice S, Yumie Nishi M, Correia Billerbeck AE, Latronico AC, Aparecida Medeiros M, Russell AJ, Vass K, Marino Carvalho F, Costa Frade EM, Prado Arnhold IJ, Bilharinho Mendonca B. Domenice S, et al. Hum Genet. 1998 Feb;102(2):213-5. doi: 10.1007/s004390050680. Hum Genet. 1998. PMID: 9521592

4

Protocol for rapid fetal sex determination in chorionic villus through polimerase chain reaction.

Domenice S, Billerbeck AE, Rocha RO, Nishi MY, Medeiros MA, Bachega TA, Budunki V, Mendonca BB. Domenice S, et al. Rev Hosp Clin Fac Med Sao Paulo. 1998 Mar-Apr;53(2):80-2. Rev Hosp Clin Fac Med Sao Paulo. 1998. PMID: 9699359

5

Treatment of gonadotropin dependent precocious puberty due to hypothalamic hamartoma with gonadotropin releasing hormone agonist depot.

de Brito VN, Latronico AC, Arnhold IJ, Lo LS, Domenice S, Albano MC, Fragoso MC, Mendonca BB. de Brito VN, et al. Among authors: domenice s. Arch Dis Child. 1999 Mar;80(3):231-4. doi: 10.1136/adc.80.3.231. Arch Dis Child. 1999. PMID: 10325702 Free PMC article.

6

Molecular analysis of SRY gene in Brazilian 46,XX sex reversed patients: absence of SRY sequence in gonadal tissue.

Domenice S, Nishi MY, Billerbeck AE, Carvalho FM, Frade EM, Latronico AC, Arnhold IJ, Mendonca BB. Domenice S, et al. Med Sci Monit. 2001 Mar-Apr;7(2):238-41. Med Sci Monit. 2001. PMID: 11257728

7

Adrenocorticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX1 gene.

Domenice S, Latronico AC, Brito VN, Arnhold IJ, Kok F, Mendonca BB. Domenice S, et al. J Clin Endocrinol Metab. 2001 Sep;86(9):4068-71. doi: 10.1210/jcem.86.9.7816. J Clin Endocrinol Metab. 2001. PMID: 11549627

8

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: domenice s. J Clin Endocrinol Metab. 2001 Oct;86(10):4970-3. doi: 10.1210/jcem.86.10.7957. J Clin Endocrinol Metab. 2001. PMID: 11600572

9

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: domenice s. 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.

10

Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene.

Fragoso MC, Domenice S, Latronico AC, Martin RM, Pereira MA, Zerbini MC, Lucon AM, Mendonca BB. Fragoso MC, et al. Among authors: domenice s. J Clin Endocrinol Metab. 2003 May;88(5):2147-51. doi: 10.1210/jc.2002-021362. J Clin Endocrinol Metab. 2003. PMID: 12727968

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