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Items: 1 to 50 of 57

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.

Hum Mol Genet. 2019 Jan 4. doi: 10.1093/hmg/ddz002. [Epub ahead of print]

PMID:
30608580
2.

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.

Clin Genet. 2019 Jan;95(1):172-176. doi: 10.1111/cge.13459. Epub 2018 Oct 28.

PMID:
30294972
3.

Androgen receptor mRNA analysis from whole blood: a low-cost strategy for detection of androgen receptor gene splicing defects.

Silva JM, Batista RL, De Santi Rodrigues A, Nishi MY, Costa EMF, Domenice S, Carvalho LRS, Mendonca BB.

Clin Genet. 2018 Nov;94(5):489-490. doi: 10.1111/cge.13437. Epub 2018 Sep 7.

PMID:
30193409
4.

Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency.

França MM, Nishi MY, Funari MFA, Lerario AM, Baracat EC, Hayashida SAY, Maciel GAR, Jorge AAL, Mendonca BB.

Eur J Med Genet. 2019 Mar;62(3):186-189. doi: 10.1016/j.ejmg.2018.07.008. Epub 2018 Jul 10.

PMID:
30006057
5.

Androgen insensitivity syndrome: a review.

Batista RL, Costa EMF, Rodrigues AS, Gomes NL, Faria JA Jr, Nishi MY, Arnhold IJP, Domenice S, Mendonca BB.

Arch Endocrinol Metab. 2018 Mar-Apr;62(2):227-235. doi: 10.20945/2359-3997000000031. Review.

6.

Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.

Gomes NL, Lerário AM, Machado AZ, Moraes DR, Silva TED, Arnhold IJP, Batista RL, Faria Júnior JAD, Costa EF, Nishi MY, Inacio M, Domenice S, Mendonca BB.

Clin Endocrinol (Oxf). 2018 Apr 18. doi: 10.1111/cen.13717. [Epub ahead of print]

PMID:
29668062
7.

Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor.

Batista RL, Rodrigues AS, Machado AZ, Nishi MY, Cunha FS, Silva RB, Costa EMF, Mendonca BB, Domenice S.

J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):223-228. doi: 10.1515/jpem-2017-0095.

PMID:
29267169
8.

Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling.

Cools M, Wolffenbuttel KP, Hersmus R, Mendonca BB, Kaprová J, Drop SLS, Stoop H, Gillis AJM, Oosterhuis JW, Costa EMF, Domenice S, Nishi MY, Wunsch L, Quigley CA, T'Sjoen G, Looijenga LHJ.

Hum Reprod. 2017 Dec 1;32(12):2561-2573. doi: 10.1093/humrep/dex300.

PMID:
29121256
9.

A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.

França MM, Funari MFA, Lerario AM, Nishi MY, Pita CC, Fontenele EGP, Mendonca BB.

Endocrine. 2017 Dec;58(3):442-447. doi: 10.1007/s12020-017-1459-2. Epub 2017 Oct 24.

PMID:
29067606
10.

Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.

França MM, Funari MFA, Nishi MY, Narcizo AM, Domenice S, Costa EMF, Lerario AM, Mendonca BB.

Clin Genet. 2018 Feb;93(2):408-411. doi: 10.1111/cge.13156. Epub 2017 Dec 26.

PMID:
29044499
11.

A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome.

Batista RL, Rodrigues ADS, Nishi MY, Gomes NL, Faria JAD Junior, Moraes DR, Carvalho LR, Costa EMF, Domenice S, Mendonca BB.

J Steroid Biochem Mol Biol. 2017 Nov;174:14-16. doi: 10.1016/j.jsbmb.2017.07.020. Epub 2017 Jul 22.

PMID:
28743543
12.

Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.

Madeira JL, Nishi MY, Nakaguma M, Benedetti AF, Biscotto IP, Fernandes T, Pequeno T, Figueiredo T, Franca MM, Correa FA, Otto AP, Abrão M, Miras MB, Santos S, Jorge AA, Costalonga EF, Mendonca BB, Arnhold IJ, Carvalho LR.

Clin Endocrinol (Oxf). 2017 Dec;87(6):725-732. doi: 10.1111/cen.13430. Epub 2017 Sep 4.

PMID:
28734020
13.

A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family.

França MM, Lerario AM, Funari MFA, Nishi MY, Narcizo AM, de Mello MP, Guerra-Junior G, Maciel-Guerra AT, Mendonça BB.

Sex Dev. 2017;11(3):137-142. doi: 10.1159/000477193. Epub 2017 Jun 8.

PMID:
28591755
14.

Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype.

Batista RL, Rodrigues AS, Nishi MY, Feitosa ACR, Gomes NLRA, Junior JAF, Domenice S, Costa EMF, de Mendonça BB.

Sex Dev. 2017;11(2):78-81. doi: 10.1159/000468957. Epub 2017 Apr 29.

PMID:
28456808
15.

Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.

Fernández-Cancio M, García-García E, González-Cejudo C, Martínez-Maestre MA, Mangas-Cruz MA, Guerra-Junior G, Pandi de Mello M, Arnhold IJP, Nishi MY, Bilharinho Mendonça B, García-Arumí E, Audí L, Tizzano E, Carrascosa A.

Sex Dev. 2017;11(2):70-77. doi: 10.1159/000468160. Epub 2017 Apr 4.

PMID:
28376482
16.

Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure.

Sousa BL, Nishi MY, Santos MG, Brito VN, Domenice S, Mendonca BB.

Clinics (Sao Paulo). 2016 Dec 1;71(12):695-698. doi: 10.6061/clinics/2016(12)03.

17.

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

Domenice S, Machado AZ, Ferreira FM, Ferraz-de-Souza B, Lerario AM, Lin L, Nishi MY, Gomes NL, da Silva TE, Silva RB, Correa RV, Montenegro LR, Narciso A, Costa EM, Achermann JC, Mendonca BB.

Birth Defects Res C Embryo Today. 2016 Dec;108(4):309-320. doi: 10.1002/bdrc.21145. Review.

18.

[Persistent Müllerian duct syndrome due to a mutation in the anti-Müllerian hormone receptor gene (AMHR2)].

Orós-Millán ME, Muñoz-Calvo MT, Nishi MY, Bilharinho Mendonca B, Argente J.

An Pediatr (Barc). 2017 Feb;86(2):94-95. doi: 10.1016/j.anpedi.2016.06.011. Epub 2016 Jul 22. Spanish. No abstract available.

19.

Effects of Type 1 Insulin-Like Growth Factor Receptor Silencing in a Human Adrenocortical Cell Line.

Ribeiro TC, Jorge AA, Montenegro LR, Almeida MQ, Ferraz-de-Souza B, Nishi MY, Mendonca BB, Latronico AC.

Horm Metab Res. 2016 Jul;48(7):484-8. doi: 10.1055/s-0042-108196. Epub 2016 May 31.

PMID:
27246621
20.

46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.

Mendonca BB, Gomes NL, Costa EM, Inacio M, Martin RM, Nishi MY, Carvalho FM, Tibor FD, Domenice S.

J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):79-85. doi: 10.1016/j.jsbmb.2016.05.002. Epub 2016 May 6. Review.

PMID:
27163392
21.

Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature.

Canton AP, Nishi MY, Furuya TK, Roela RA, Jorge AA.

Am J Med Genet A. 2016 Apr;170A(4):1046-9. doi: 10.1002/ajmg.a.37521. Epub 2015 Dec 22. Review.

PMID:
26689153
22.

Disorders of sex development: effect of molecular diagnostics.

Achermann JC, Domenice S, Bachega TA, Nishi MY, Mendonca BB.

Nat Rev Endocrinol. 2015 Aug;11(8):478-88. doi: 10.1038/nrendo.2015.69. Epub 2015 May 5. Review.

PMID:
25942653
23.

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.

Correa FA, Trarbach EB, Tusset C, Latronico AC, Montenegro LR, Carvalho LR, Franca MM, Otto AP, Costalonga EF, Brito VN, Abreu AP, Nishi MY, Jorge AA, Arnhold IJ, Sidis Y, Pitteloud N, Mendonca BB.

Endocr Connect. 2015 Jun;4(2):100-7. doi: 10.1530/EC-15-0015. Epub 2015 Mar 10.

24.

Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency.

Khattab A, Yuen T, Yau M, Domenice S, Frade Costa EM, Diya K, Muhuri D, Pina CE, Nishi MY, Yang AC, de Mendonça BB, New MI.

J Pediatr Endocrinol Metab. 2015 May;28(5-6):623-8. doi: 10.1515/jpem-2014-0295.

PMID:
25536660
25.

Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort.

Lido AC, França MM, Correa FA, Otto AP, Carvalho LR, Quedas EP, Nishi MY, Mendonca BB, Arnhold IJ, Jorge AA.

Growth Horm IGF Res. 2014 Oct;24(5):180-6. doi: 10.1016/j.ghir.2014.07.001. Epub 2014 Jul 30.

PMID:
25116472
26.

Amplification of the insulin-like growth factor 1 receptor gene is a rare event in adrenocortical adenocarcinomas: searching for potential mechanisms of overexpression.

Ribeiro TC, Jorge AA, Almeida MQ, Mariani BM, Nishi MY, Mendonca BB, Fragoso MC, Latronico AC.

Biomed Res Int. 2014;2014:936031. doi: 10.1155/2014/936031. Epub 2014 Jul 10.

27.

Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency.

Santos MG, Machado AZ, Martins CN, Domenice S, Costa EM, Nishi MY, Ferraz-de-Souza B, Jorge SA, Pereira CA, Soardi FC, de Mello MP, Maciel-Guerra AT, Guerra-Junior G, Mendonca BB.

Biomed Res Int. 2014;2014:787465. doi: 10.1155/2014/787465. Epub 2014 Jun 26.

28.

ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia.

Alencar GA, Lerario AM, Nishi MY, Mariani BM, Almeida MQ, Tremblay J, Hamet P, Bourdeau I, Zerbini MC, Pereira MA, Gomes GC, Rocha Mde S, Chambo JL, Lacroix A, Mendonca BB, Fragoso MC.

J Clin Endocrinol Metab. 2014 Aug;99(8):E1501-9. doi: 10.1210/jc.2013-4237. Epub 2014 Apr 7.

PMID:
24708098
29.

The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis.

Malaquias AC, Scalco RC, Fontenele EG, Costalonga EF, Baldin AD, Braz AF, Funari MF, Nishi MY, Guerra-Junior G, Mendonca BB, Arnhold IJ, Jorge AA.

Horm Res Paediatr. 2013;80(6):449-56. doi: 10.1159/000355411. Epub 2013 Nov 26.

PMID:
24296787
30.

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.

Vasques GA, Amano N, Docko AJ, Funari MF, Quedas EP, Nishi MY, Arnhold IJ, Hasegawa T, Jorge AA.

J Clin Endocrinol Metab. 2013 Oct;98(10):E1636-44. doi: 10.1210/jc.2013-2142. Epub 2013 Sep 3.

PMID:
24001744
31.

Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding.

Nishi MY, Martins TC, Costa EM, Mendonca BB, Giron AM, Domenice S.

Arq Bras Endocrinol Metabol. 2013 Mar;57(2):148-52.

32.

A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

Battistin C, Menezes Filho HC, Domenice S, Nishi MY, Della Manna T, Kuperman H, Steinmetz L, Dichtchekenian V, Setian N, Damiani D.

Arq Bras Endocrinol Metabol. 2012 Nov;56(8):496-500.

33.

Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome.

Nishi MY, Domenice S, Maciel-Guerra AT, Zaba Neto A, Silva MA, Costa EM, Guerra-Junior G, Mendonca BB.

Arq Bras Endocrinol Metabol. 2012 Nov;56(8):473-8.

34.

GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects.

Marui S, Trarbach EB, Boguszewski MC, França MM, Jorge AA, Inoue H, Nishi MY, de Lacerda Filho L, Aguiar-Oliveira MH, Mendonca BB, Arnhold IJ.

Horm Res Paediatr. 2012;78(3):165-72. doi: 10.1159/000342760. Epub 2012 Oct 10.

PMID:
23052699
35.

Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis.

Machado AZ, da Silva TE, Frade Costa EM, Dos Santos MG, Nishi MY, Brito VN, Mendonca BB, Domenice S.

Eur J Med Genet. 2012 Dec;55(12):690-4. doi: 10.1016/j.ejmg.2012.07.012. Epub 2012 Aug 9.

PMID:
22939835
36.

Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver-Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11.

Montenegro LR, Leal AC, Coutinho DC, Valassi HP, Nishi MY, Arnhold IJ, Mendonca BB, Jorge AA.

Eur J Endocrinol. 2012 Mar;166(3):543-50. doi: 10.1530/EJE-11-0964. Epub 2011 Dec 14.

PMID:
22170793
37.

A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome.

da Silva TE, Nishi MY, Costa EM, Martin RM, Carvalho FM, Mendonca BB, Domenice S.

Pediatr Nephrol. 2011 Aug;26(8):1311-5. doi: 10.1007/s00467-011-1847-4. Epub 2011 May 11.

PMID:
21559934
38.

Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment.

Jorge AA, Funari MF, Nishi MY, Mendonca BB.

Pediatr Endocrinol Rev. 2010 Dec;8(2):79-85. Review.

PMID:
21150837
39.

The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants.

Nishi MY, Costa EM, Oliveira SB, Mendonca BB, Domenice S.

Horm Res Paediatr. 2011;75(1):26-31. doi: 10.1159/000316536. Epub 2010 Aug 12.

PMID:
20699606
40.

Usefulness of MLPA in the detection of SHOX deletions.

Funari MF, Jorge AA, Souza SC, Billerbeck AE, Arnhold IJ, Mendonca BB, Nishi MY.

Eur J Med Genet. 2010 Sep-Oct;53(5):234-8. doi: 10.1016/j.ejmg.2010.06.001. Epub 2010 Jun 9.

PMID:
20538086
41.

Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults.

Almeida MQ, Soares IC, Ribeiro TC, Fragoso MC, Marins LV, Wakamatsu A, Ressio RA, Nishi MY, Jorge AA, Lerario AM, Alves VA, Mendonca BB, Latronico AC.

J Clin Endocrinol Metab. 2010 Mar;95(3):1458-62. doi: 10.1210/jc.2009-2040. Epub 2010 Jan 15.

PMID:
20080844
42.

Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency.

Scalco RC, Melo SS, Pugliese-Pires PN, Funari MF, Nishi MY, Arnhold IJ, Mendonca BB, Jorge AA.

J Clin Endocrinol Metab. 2010 Jan;95(1):328-32. doi: 10.1210/jc.2009-1577. Epub 2009 Nov 19.

43.

Analysis of glucose-dependent insulinotropic peptide receptor (GIPR) and luteinizing hormone receptor (LHCGR) expression in human adrenocortical hyperplasia.

Costa MH, Domenice S, Latronico AC, Martin RM, Nishi MY, Lucon AM, Mendonca BB, Fragoso MC.

Arq Bras Endocrinol Metabol. 2009 Apr;53(3):326-31.

44.

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.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1382-7.

45.

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.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1282-7.

46.

Expression profiles of the glucose-dependent insulinotropic peptide receptor and LHCGR in sporadic adrenocortical tumors.

Costa MH, Latronico AC, Martin RM, Barbosa AS, Almeida MQ, Lotfi CF, Valassi HP, Nishi MY, Lucon AM, Siqueira SA, Zerbini MC, Carvalho LR, Mendonca BB, Fragoso MC.

J Endocrinol. 2009 Feb;200(2):167-75. doi: 10.1677/JOE-08-0395. Epub 2008 Oct 29.

PMID:
18971217
47.

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

Jorge AA, Nishi MY, Funari MF, Souza SC, Arnhold IJ, Mendonça BB.

Arq Bras Endocrinol Metabol. 2008 Jul;52(5):765-73. Review. Portuguese.

48.

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.

J Clin Endocrinol Metab. 2008 Sep;93(9):3524-31. doi: 10.1210/jc.2008-0065. Epub 2008 Jul 8.

PMID:
18611974
49.

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.

Jorge AA, Souza SC, Nishi MY, Billerbeck AE, Libório DC, Kim CA, Arnhold IJ, Mendonca BB.

Clin Endocrinol (Oxf). 2007 Jan;66(1):130-5.

PMID:
17201812
50.

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.

Clin Endocrinol (Oxf). 2006 Sep;65(3):294-300. Review.

PMID:
16918947

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