Nishi MY - Search Results

1

Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.

Chamberlin A, Huether R, Machado AZ, Groden M, Liu HM, Upadhyay K, O V, Gomes NL, Lerario AM, Nishi MY, Costa EMF, Mendonca B, Domenice S, Velasco J, Loke J, Ostrer H. Chamberlin A, et al. Among authors: nishi my. Hum Mol Genet. 2019 May 15;28(10):1620-1628. doi: 10.1093/hmg/ddz002. Hum Mol Genet. 2019. PMID: 30608580

2

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. Among authors: nishi my. Rev Hosp Clin Fac Med Sao Paulo. 1998 Mar-Apr;53(2):80-2. Rev Hosp Clin Fac Med Sao Paulo. 1998. PMID: 9699359

3

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. Among authors: nishi my. Med Sci Monit. 2001 Mar-Apr;7(2):238-41. Med Sci Monit. 2001. PMID: 11257728

4

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. 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.

5

Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.

Domenice S, Corrêa RV, Costa EM, Nishi MY, Vilain E, Arnhold IJ, Mendonca BB. Domenice S, et al. Among authors: nishi my. Braz J Med Biol Res. 2004 Jan;37(1):145-50. doi: 10.1590/s0100-879x2004000100020. Epub 2003 Dec 18. Braz J Med Biol Res. 2004. PMID: 14689056 Free article.

6

[Standardization of DNA extraction with NaCl from oral mucosa cells: application in PROP1 gene study].

Abrão MG, Billerbeck AE, Nishi MY, Marui S, Mendonça BB. Abrão MG, et al. Among authors: nishi my. Arq Bras Endocrinol Metabol. 2005 Dec;49(6):978-82. doi: 10.1590/s0004-27302005000600019. Epub 2006 Mar 16. Arq Bras Endocrinol Metabol. 2005. PMID: 16544023 Portuguese.

7

Expression of insulin-like growth factor-II and its receptor in pediatric and adult adrenocortical tumors.

Almeida MQ, Fragoso MC, Lotfi CF, Santos MG, Nishi MY, Costa MH, Lerario AM, Maciel CC, Mattos GE, Jorge AA, Mendonca BB, Latronico AC. Almeida MQ, et al. Among authors: nishi my. J Clin Endocrinol Metab. 2008 Sep;93(9):3524-31. doi: 10.1210/jc.2008-0065. Epub 2008 Jul 8. J Clin Endocrinol Metab. 2008. PMID: 18611974

8

[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment].

Jorge AA, Nishi MY, Funari MF, Souza SC, Arnhold IJ, Mendonça BB. Jorge AA, et al. Among authors: nishi my. Arq Bras Endocrinol Metabol. 2008 Jul;52(5):765-73. doi: 10.1590/s0004-27302008000500008. Arq Bras Endocrinol Metabol. 2008. PMID: 18797583 Review. Portuguese.

9

Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage.

Nishi MY, Correa RV, Costa EM, Billerbeck AE, Cruzes AL, Domenice S, Carvalho LR, Mendonca BB. Nishi MY, et al. Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1282-7. doi: 10.1590/s0004-27302008000800013. Arq Bras Endocrinol Metabol. 2008. PMID: 19169482

10

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: nishi my. 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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