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Items: 32

1.

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
2.

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
3.

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
4.

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
5.

Very Long Term Follow-Up After Percutaneous Balloon Mitral Valvuloplasty.

Meneguz-Moreno RA, Costa JR Jr, Gomes NL, Braga SLN, Ramos AIO, Meneghelo Z, Maldonado M, Ferreira-Neto AN, Franca JID, Siqueira D, Esteves C, Sousa A, Sousa JE, Abizaid A.

JACC Cardiovasc Interv. 2018 Oct 8;11(19):1945-1952. doi: 10.1016/j.jcin.2018.05.039. Epub 2018 Aug 1.

PMID:
30077684
6.

Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.

Sproll P, Eid W, Gomes CR, Mendonca BB, Gomes NL, Costa EM, Biason-Lauber A.

Mol Genet Genomic Med. 2018 Sep;6(5):785-795. doi: 10.1002/mgg3.445. Epub 2018 Jul 11.

7.

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.

8.

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
9.

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
10.

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
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.

The efficacy of hyperbaric oxygen therapy in the treatment of central retinal artery occlusion.

Soares A, Gomes NL, Mendonça L, Ferreira C.

BMJ Case Rep. 2017 May 12;2017. pii: bcr-2017-220113. doi: 10.1136/bcr-2017-220113.

13.

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
14.

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.

15.

Self-reported prevalence of disability in Brazil, according to the National Health Survey, 2013.

Malta DC, Stopa SR, Canuto R, Gomes NL, Mendes VL, Goulart BN, Moura L.

Cien Saude Colet. 2016 Oct;21(10):3253-3264. doi: 10.1590/1413-812320152110.17512016. Portuguese, English.

16.

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
17.

Internal limiting membrane translocation for refractory macular holes.

Pires J, Nadal J, Gomes NL.

Br J Ophthalmol. 2017 Mar;101(3):377-382. doi: 10.1136/bjophthalmol-2015-308299. Epub 2016 May 4.

PMID:
27146153
18.

Surveillance and monitoring of major chronic diseases in Brazil - National Health Survey, 2013.

Malta DC, Stopa SR, Szwarcwald CL, Gomes NL, Silva Júnior JB, Dos Reis AA.

Rev Bras Epidemiol. 2015 Dec;18 Suppl 2:3-16. doi: 10.1590/1980-5497201500060002. English, Portuguese.

19.

Use of tranexamic acid for controlling bleeding in thoracolumbar scoliosis surgery with posterior instrumentation.

da Rocha VM, de Barros AG, Naves CD, Gomes NL, Lobo JC, Villela Schettino LC, da Silva LE.

Rev Bras Ortop. 2015 Mar 30;50(2):226-31. doi: 10.1016/j.rboe.2015.03.007. eCollection 2015 Mar-Apr.

20.

21-Benzylidene digoxin: a proapoptotic cardenolide of cancer cells that up-regulates Na,K-ATPase and epithelial tight junctions.

Rocha SC, Pessoa MT, Neves LD, Alves SL, Silva LM, Santos HL, Oliveira SM, Taranto AG, Comar M, Gomes IV, Santos FV, Paixão N, Quintas LE, Noël F, Pereira AF, Tessis AC, Gomes NL, Moreira OC, Rincon-Heredia R, Varotti FP, Blanco G, Villar JA, Contreras RG, Barbosa LA.

PLoS One. 2014 Oct 7;9(10):e108776. doi: 10.1371/journal.pone.0108776. eCollection 2014.

21.

Effects of cholinergic stimulation with pyridostigmine bromide on chronic chagasic cardiomyopathic mice.

de Cuba MB, Machado MP, Farnesi TS, Alves AC, Martins LA, de Oliveira LF, Capitelli CS, Leite CF, Silva MV, Machado JR, Kappel HB, de Campos HS, Paiva L, Gomes NL, Faleiros AC, Britto CF, Savino W, Moreira OC, Rodrigues V Jr, Montano N, Lages-Silva E, Ramirez LE, da Silva VJ.

Mediators Inflamm. 2014;2014:475946. doi: 10.1155/2014/475946. Epub 2014 Aug 24.

22.

Possible role for fundus autofluorescence as a predictive factor for visual acuity recovery after epiretinal membrane surgery.

Brito PN, Gomes NL, Vieira MP, Faria PA, Fernandes AV, Rocha-Sousa A, Falcão-Reis F.

Retina. 2014 Feb;34(2):273-80. doi: 10.1097/IAE.0b013e3182999a02.

PMID:
23881227
23.

A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome.

Rocha-Sousa A, Hayashi T, Gomes NL, Penas S, Brandão E, Rocha P, Urashima M, Yamada H, Tsuneoka H, Falcão-Reis F.

Graefes Arch Clin Exp Ophthalmol. 2011 Feb;249(2):201-8. doi: 10.1007/s00417-010-1482-y. Epub 2010 Aug 20.

PMID:
20725840
24.

Physical properties of commercially available formulations of triamcinolone acetonide.

Chang LK, Gomes NL, Zhou J, Chang S.

Br J Ophthalmol. 2009 Sep;93(9):1265-6. doi: 10.1136/bjo.2008.147785. No abstract available.

PMID:
19704042
25.

Lipofuscin and autofluorescence metrics in progressive STGD.

Smith RT, Gomes NL, Barile G, Busuioc M, Lee N, Laine A.

Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3907-14. doi: 10.1167/iovs.08-2448. Epub 2009 Apr 22.

26.

A comparison of fundus autofluorescence and retinal structure in patients with Stargardt disease.

Gomes NL, Greenstein VC, Carlson JN, Tsang SH, Smith RT, Carr RE, Hood DC, Chang S.

Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3953-9. doi: 10.1167/iovs.08-2657. Epub 2009 Mar 25.

27.

Subfoveal pigment changes in patients with longstanding epiretinal membranes.

Gomes NL, Corcostegui I, Fine HF, Chang S.

Am J Ophthalmol. 2009 May;147(5):865-8. doi: 10.1016/j.ajo.2008.12.021. Epub 2009 Feb 20.

PMID:
19232558
28.

Acute posterior multifocal placoid pigment epitheliopathy following varicella vaccination.

Fine HF, Kim E, Flynn TE, Gomes NL, Chang S.

Br J Ophthalmol. 2010 Mar;94(3):282-3, 363. doi: 10.1136/bjo.2008.144501. Epub 2008 Aug 26. No abstract available.

PMID:
18728052
29.

[Incidence of intracardiac thrombus and thromboembolism in the first three months after bioprosthetic valve implantation].

Ramos AI, Magalhães HM, Maldonado M, Togna DJ, Meneghelo ZM, Arnoni AS, Machado L, Gomes NL, Paulista PP.

Arq Bras Cardiol. 2004 Dec;83 Spec No:46-52. Epub 2004 Dec 13. Portuguese. No abstract available.

30.

Percutaneous mitral valvotomy in patients eighteen years old and younger. Immediate and late results.

Mattos C, Braga SL, Esteves CA, Branco JM, Gomes NL, Maldonado M, Fontes VF.

Arq Bras Cardiol. 1999 Oct;73(4):373-81.

31.

[Mitral double catheter-balloon valvuloplasty, hemodynamics evaluation of 52 cases one year after the procedure].

Gomes NL, Esteves CA, Braga SL, Ramos A, Meneghelo ZM, Mattos LA, Sousa AG, de Almeida CT, Fontes VF, Sousa JE.

Arq Bras Cardiol. 1993 May;60(5):307-10. Portuguese.

PMID:
8311745
32.

[Mitral valvuloplasty with double balloon catheter. Analysis of 200 cases].

Gomes NL, Esteves CA, Braga SL, Ramos AI, Meneghelo ZM, Mattos LA, Pontes Júnior SC, Arnoni AS, Fontes VF, Sousa JE.

Arq Bras Cardiol. 1992 Apr;58(4):269-74. Portuguese.

PMID:
1340695

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