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Items: 1 to 50 of 73

1.

Mobile DNA in Endocrinology: LINE-1 retrotransposon causing Partial Androgen Insensitivity Syndrome.

Batista RL, Yamaguchi K, di Santi Rodrigues A, Nishi MY, Goodier JL, Carvalho LR, Domenice S, Costa EMF, Hazazian H, Mendonca BB.

J Clin Endocrinol Metab. 2019 Aug 8. pii: jc.2019-00144. doi: 10.1210/jc.2019-00144. [Epub ahead of print]

PMID:
31393562
2.

Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life.

Wisniewski AB, Batista RL, Costa EMF, Finlayson C, Sircili MHP, Dénes FT, Domenice S, Mendonca BB.

Endocr Rev. 2019 Jul 31. pii: er.2019-00049. doi: 10.1210/er.2019-00049. [Epub ahead of print]

PMID:
31365064
3.

Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum.

Evilen da Silva T, Gomes NL, Lerário AM, Keegan CE, Nishi MY, Carvalho FM, Vilain E, Barseghyanm H, Martinez-Aguayo A, Forclaz MV, Papazian R, Pedroso de Paula LC, Costa EC, Carvalho LR, Jorge AA, Elias F, Mitchell R, Frade Costa EM, Mendonca BB, Domenice S.

J Clin Endocrinol Metab. 2019 Jul 9. pii: jc.2019-00984. doi: 10.1210/jc.2019-00984. [Epub ahead of print]

PMID:
31287541
4.

Persistent Poor Metabolic Profile in Postmenopausal Women With Ovarian Hyperandrogenism After Testosterone Level Normalization.

Rocha T, Crespo RP, Yance VVR, Hayashida SA, Baracat EC, Carvalho F, Domenice S, Mendonca BB, Gomes LG.

J Endocr Soc. 2019 Apr 4;3(5):1087-1096. doi: 10.1210/js.2018-00405. eCollection 2019 May 1.

5.

Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency.

Franca MM, Han X, Funari MFA, Lerario AM, Nishi MY, Fontenele EGP, Domenice S, Jorge AAL, Garcia-Galiano D, Elias CF, Mendonca BB.

J Clin Endocrinol Metab. 2019 Jul 1;104(7):2827-2841. doi: 10.1210/jc.2018-02485.

PMID:
30830215
6.

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 May 15;28(10):1620-1628. doi: 10.1093/hmg/ddz002.

PMID:
30608580
7.

Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development.

Loch Batista R, Inácio M, Prado Arnhold IJ, Gomes NL, Diniz Faria JA, Rodrigues de Moraes D, Frade Costa EM, Domenice S, Bilharinho Mendonça B.

J Clin Endocrinol Metab. 2019 Apr 1;104(4):1160-1170. doi: 10.1210/jc.2018-01866.

PMID:
30388241
8.

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
9.

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
10.

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.

11.

Low estrogen doses normalize testosterone and estradiol levels to the female range in transgender women.

Cunha FS, Domenice S, Sircili MHP, Mendonca BB, Costa EMF.

Clinics (Sao Paulo). 2018;73:e86. doi: 10.6061/clinics/2018/e86. Epub 2018 May 3.

12.

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
13.

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
14.

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.

Baetens D, Güran T, Mendonca BB, Gomes NL, De Cauwer L, Peelman F, Verdin H, Vuylsteke M, Van der Linden M; ESR2 STUDY GROUP, Atay Z, Bereket A, de Krijger RR, Preter K, Domenice S, Turan S, Stoop H, Looijenga LH, De Bosscher K, Cools M, De Baere E.

Genet Med. 2018 Jul;20(7):717-727. doi: 10.1038/gim.2017.163. Epub 2017 Oct 26.

PMID:
29261182
15.

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
16.

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.

17.

A severe phenotype of Kennedy disease associated with a very large CAG repeat expansion.

Madeira JLO, Souza ABC, Cunha FS, Batista RL, Gomes NL, Rodrigues AS, Mennucci de Haidar Jorge F, Chadi G, Callegaro D, Mendonca BB, Costa EMF, Domenice S.

Muscle Nerve. 2018 Jan;57(1):E95-E97. doi: 10.1002/mus.25952. Epub 2017 Sep 18. No abstract available.

PMID:
28877561
18.

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
19.

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
20.

Discriminating between virilizing ovary tumors and ovary hyperthecosis in postmenopausal women: clinical data, hormonal profiles and image studies.

Yance VRV, Marcondes JAM, Rocha MP, Barcellos CRG, Dantas WS, Avila AFA, Baroni RH, Carvalho FM, Hayashida SAY, Mendonca BB, Domenice S.

Eur J Endocrinol. 2017 Jul;177(1):93-102. doi: 10.1530/EJE-17-0111. Epub 2017 Apr 21.

PMID:
28432270
21.

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.

22.

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.

23.

Reprint of "Steroid 5α-reductase 2 deficiency".

Mendonca BB, Batista RL, Domenice S, Costa EM, Arnhold IJ, Russell DW, Wilson JD.

J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):95-100. doi: 10.1016/j.jsbmb.2016.11.006. Epub 2016 Nov 11. Review.

PMID:
27842977
24.

Steroid 5α-reductase 2 deficiency.

Mendonca BB, Batista RL, Domenice S, Costa EM, Arnhold IJ, Russell DW, Wilson JD.

J Steroid Biochem Mol Biol. 2016 Oct;163:206-11. doi: 10.1016/j.jsbmb.2016.05.020. Epub 2016 May 22. Review.

PMID:
27224879
25.

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
26.

Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects.

Carvalho LC, Brito VN, Martin RM, Zamboni AM, Gomes LG, Inácio M, Mermejo LM, Coeli-Lacchini F, Teixeira VR, Gonçalves FT, Carrilho AJ, Del Toro Camargo KY, Finkielstain GP, Taboada GF, Frade Costa EM, Domenice S, Mendonca BB.

Fertil Steril. 2016 Jun;105(6):1612-9. doi: 10.1016/j.fertnstert.2016.02.008. Epub 2016 Feb 23.

PMID:
26920256
27.

Successful Live Birth in a Woman With 17α-Hydroxylase Deficiency Through IVF Frozen-Thawed Embryo Transfer.

Bianchi PH, Gouveia GR, Costa EM, Domenice S, Martin RM, de Carvalho LC, Pelaes T, Inacio M, Codarin RR, Sator de Faria MB, Francisco RP, Baracat EC, Serafini PC, Mendonca BB.

J Clin Endocrinol Metab. 2016 Feb;101(2):345-8. doi: 10.1210/jc.2015-3201. Epub 2015 Dec 8.

PMID:
26647153
28.

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
29.

46,XY Disorders of Sexual Development.

Domenice S, Arnhold IJP, Costa EMF, Mendonca BB.

In: Feingold KR, Anawalt B, Boyce A, Chrousos G, Dungan K, Grossman A, Hershman JM, Kaltsas G, Koch C, Kopp P, Korbonits M, McLachlan R, Morley JE, New M, Perreault L, Purnell J, Rebar R, Singer F, Trence DL, Vinik A, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-.
2017 May 3.

30.

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
31.

Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre.

Cassia Amaral R, Inacio M, Brito VN, Bachega TA, Oliveira AA Jr, Domenice S, Denes FT, Sircili MH, Arnhold IJ, Madureira G, Gomes L, Costa EM, Mendonca BB.

Clin Endocrinol (Oxf). 2015 Feb;82(2):274-9. doi: 10.1111/cen.12572. Epub 2014 Sep 1.

PMID:
25074426
32.

Diagnosis of prolactinoma in two male-to-female transsexual subjects following high-dose cross-sex hormone therapy.

Cunha FS, Domenice S, Câmara VL, Sircili MH, Gooren LJ, Mendonça BB, Costa EM.

Andrologia. 2015 Aug;47(6):680-4. doi: 10.1111/and.12317. Epub 2014 Jul 25.

PMID:
25059808
33.

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.

34.

Quality of life of patients with 46,XX and 46,XY disorders of sex development.

Amaral RC, Inacio M, Brito VN, Bachega TA, Domenice S, Arnhold IJ, Madureira G, Gomes L, Costa EM, Mendonca BB.

Clin Endocrinol (Oxf). 2015 Feb;82(2):159-64. doi: 10.1111/cen.12561. Epub 2014 Aug 14. Review.

PMID:
25040878
35.

Long-term followup of a large cohort of patients with ovotesticular disorder of sex development.

Sircili MH, Denes FT, Costa EM, Machado MG, Inacio M, Silva RB, Srougi M, Mendonca BB, Domenice S.

J Urol. 2014 May;191(5 Suppl):1532-6. doi: 10.1016/j.juro.2013.10.037. Epub 2014 Mar 26.

PMID:
24679863
36.

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.

PMID:
23525294
37.

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.

PMID:
23295288
38.

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.

PMID:
23295284
39.

DSD due to 5α-reductase 2 deficiency - from diagnosis to long term outcome.

Costa EM, Domenice S, Sircili MH, Inacio M, Mendonca BB.

Semin Reprod Med. 2012 Oct;30(5):427-31. doi: 10.1055/s-0032-1324727. Epub 2012 Oct 8. Review.

PMID:
23044880
40.

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
41.

MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female.

Brandão MP, Costa EM, Fukami M, Gerdulo M, Pereira NP, Domenice S, Ogata T, Mendonca BB.

Adv Exp Med Biol. 2011;707:129-31. doi: 10.1007/978-1-4419-8002-1_28. No abstract available.

PMID:
21691970
42.

46,XY disorders of sex development (46,XY DSD) due to androgen receptor defects: androgen insensitivity syndrome.

Arnhold IJ, Melo K, Costa EM, Danilovic D, Inacio M, Domenice S, Mendonca BB.

Adv Exp Med Biol. 2011;707:59-61. doi: 10.1007/978-1-4419-8002-1_14. No abstract available.

PMID:
21691956
43.

46,XY DSD due to 17β-HSD3 deficiency and 5α-reductase type 2 deficiency.

Inacio M, Sircili MH, Brito VN, Domenice S, Oliveira-Junior AA, Arnhold IJ, Tibor FD, Costa EM, Mendonca BB.

Adv Exp Med Biol. 2011;707:9-14. doi: 10.1007/978-1-4419-8002-1_3. No abstract available.

PMID:
21691945
44.

Glucose-dependent insulinotropic peptide receptor overexpression in adrenocortical hyperplasia in MEN1 syndrome without loss of heterozygosity at the 11q13 locus.

Costa MH, Domenice S, Toledo RA, Lourenço DM Jr, Latronico AC, Pinto EM, Toledo SP, Mendonca BB, Fragoso MC.

Clinics (Sao Paulo). 2011;66(4):529-33. Erratum in: Clinics (Sao Paulo). 2011;66(12):2183. Lourenço, Delmar Muniz Junior [corrected to Lourenço, Delmar Muniz Jr].

45.

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
46.

Clinical and molecular aspects of a pediatric metachronous adrenocortical tumor.

Lima Lde O, Lerario AM, Alencar GA, Brito LP, Almeida MQ, Domenice S, Latronico AC, Mendonca BB, Fragoso MC.

Arq Bras Endocrinol Metabol. 2011 Feb;55(1):72-7.

PMID:
21468523
47.

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
48.

46,XY DSD due to impaired androgen production.

Mendonca BB, Costa EM, Belgorosky A, Rivarola MA, Domenice S.

Best Pract Res Clin Endocrinol Metab. 2010 Apr;24(2):243-62. doi: 10.1016/j.beem.2009.11.003. Review.

PMID:
20541150
49.

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.

PMID:
19578593
50.

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.

PMID:
19169482

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