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Items: 15

1.

Why pediatricians need to know the disorders of sex development: experience of 709 cases in a specialized service.

Beck MSE, Germano CW, Barros BA, Andrade JGR, Guaragna-Filho G, Paula GB, Miranda ML, Guaragna MS, Fabbri-Scallet H, Mazzola TN, Viguetti-Campos NL, Vieira TAP, Lemos-Marini SHV, Marques-de-Faria AP, Silva RBPE, Mello MP, Maciel-Guerra AT, Guerra-Júnior G.

J Pediatr (Rio J). 2019 Jun 27. pii: S0021-7557(19)30168-8. doi: 10.1016/j.jped.2019.04.007. [Epub ahead of print]

2.

Controversies on Timing of Sex Assignment and Surgery in Individuals With Disorders of Sex Development: A Perspective.

Hemesath TP, de Paula LCP, Carvalho CG, Leite JCL, Guaragna-Filho G, Costa EC.

Front Pediatr. 2019 Jan 10;6:419. doi: 10.3389/fped.2018.00419. eCollection 2018.

3.

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
4.

Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development.

Dessens A, Guaragna-Filho G, Kyriakou A, Bryce J, Sanders C, Nordenskjöld A, Rozas M, Iotova V, Ediati A, Juul A, Krawczynski M, Hiort O, Faisal Ahmed S.

BMJ Paediatr Open. 2017 Aug 31;1(1):e000132. doi: 10.1136/bmjpo-2017-000132. eCollection 2017. Erratum in: BMJ Paediatr Open. 2018 Feb 23;2(1):e000132corr1.

5.

Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion.

Guaragna-Filho G, Calixto AR, De Paula GB, De Oliveira LC, Morcillo AM, De Mello MP, Maciel-Guerra AT, Guerra-Junior G.

J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):191-194. doi: 10.1515/jpem-2017-0351.

PMID:
29306929
6.

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing.

De Paula GB, Barros BA, Carpini S, Tincani BJ, Mazzola TN, Sanches Guaragna M, Piveta CS, de Oliveira LC, Andrade JG, Guaragna-Filho G, Barbieri PP, Ferreira NM, Miranda ML, Gonçalves EM, Morcillo AM, Viguetti-Campos NL, Lemos-Marini SH, Silva RB, Marques-de-Faria AP, De Mello MP, Maciel-Guerra AT, Guerra-Junior G.

Int J Endocrinol. 2016;2016:4963574. doi: 10.1155/2016/4963574. Epub 2016 Nov 28.

7.

The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene.

Lucas-Herald A, Bertelloni S, Juul A, Bryce J, Jiang J, Rodie M, Sinnott R, Boroujerdi M, Lindhardt Johansen M, Hiort O, Holterhus PM, Cools M, Guaragna-Filho G, Guerra-Junior G, Weintrob N, Hannema S, Drop S, Guran T, Darendeliler F, Nordenstrom A, Hughes IA, Acerini C, Tadokoro-Cuccaro R, Ahmed SF.

J Clin Endocrinol Metab. 2016 Nov;101(11):3959-3967. Epub 2016 Jul 12.

8.

Hypopituitarism as consequence of late neonatal infection by Group B streptococcus: a case report.

Ferreira AS, Fernandes AL, Guaragna-Filho G.

Pan Afr Med J. 2015 Mar 30;20:308. doi: 10.11604/pamj.2015.20.308.6538. eCollection 2015.

9.

Ovotesticular disorder of sex development with unusual karyotype: patient report.

Paula GB, Ribeiro Andrade JG, Guaragna-Filho G, Sewaybricker LE, Miranda ML, Maciel-Guerra AT, Guerra-Júnior G.

J Pediatr Endocrinol Metab. 2015 May;28(5-6):677-80. doi: 10.1515/jpem-2014-0328.

PMID:
25514326
10.

Prader-Willi syndrome: a case report with atypical developmental features.

Sewaybricker LE, Guaragna-Filho G, Paula GB, Andrade JG, Tincani BJ, D'Souza-Li L, Lemos-Marini SH, Maciel-Guerra AT, Guerra-Júnior G.

J Pediatr Endocrinol Metab. 2014 Sep;27(9-10):983-8. doi: 10.1515/jpem-2013-0500.

PMID:
24859508
11.

46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene.

Guaragna-Filho G, Castro CC, Carvalho RR, Coeli FB, Ferraz LF, Petroli RJ, Mello MP, Sewaybricker LE, Lemos-Marini SH, D'Souza-Li LF, Miranda ML, Maciel-Guerra AT, Guerra-Junior G.

Arq Bras Endocrinol Metabol. 2012 Nov;56(8):578-85.

PMID:
23295302
12.

The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies.

Maciel-Guerra AT, Paulo JD, Santos AP, Guaragna-Filho G, Andrade JG, Siviero-Miachon AA, Spinola-Castro AM, Guerra-Júnior G.

Arq Bras Endocrinol Metabol. 2012 Nov;56(8):545-51.

PMID:
23295296
13.

Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.

Castro CC, Guaragna-Filho G, Calais FL, Coeli FB, Leal IR, Cavalcante-Junior EF, Monlleó IL, Pereira SR, Silva RB, Gabiatti JR, Marques-de-Faria AP, Maciel-Guerra AT, Mello MP, Guerra-Junior G.

Arq Bras Endocrinol Metabol. 2012 Nov;56(8):533-9.

PMID:
23295294
14.

Klinefelter syndrome: an unusual diagnosis in pediatric patients.

Tincani BJ, Mascagni BR, Pinto RD, Guaragna-Filho G, Castro CC, Sewaybricker LE, Viguetti-Campos NL, Marques-de-Faria AP, Maciel-Guerra AT, Guerra-Júnior G.

J Pediatr (Rio J). 2012 Jul;88(4):323-7. doi: 10.2223/JPED.2208.

15.

Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency.

Veiga-Junior NN, Medaets PA, Petroli RJ, Calais FL, de Mello MP, Castro CC, Guaragna-Filho G, Sewaybricker LE, Marques-de-Faria AP, Maciel-Guerra AT, Guerra-Junior G.

Int J Endocrinol. 2012;2012:964876. doi: 10.1155/2012/964876. Epub 2011 Dec 12.

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