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Gil Guerra-Junior
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Journal Articles

Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls

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Subject Area:
Topic Article Package: ADC (Antibody-Drug Conjugates) , Karger e-Journal Backfile Collection 2023 , Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Guilherme Guaragna-Filho, Gil Guerra-Junior, Rieko Tadokoro-Cuccaro, Ieuan A. Hughes, Beatriz A. Barros, Olaf Hiort, Antonio Balsamo, Tulay Guran, Paul M. Holterhus, Sabine Hannema, Sukran Poyrazoglu, Feyza Darendeliler, Jillian Bryce, S. Faisal Ahmed, Charmian A. Quigley
Journal: Sexual Development
Sex Dev (2023) 17 (1): 16–25.
https://doi.org/10.1159/000526997
Published Online: 02 August 2023
View articletitled, Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls
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Journal Articles

Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review

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Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Beatriz Amstalden Barros, Mara Sanches Guaragna, Helena Fabbri-Scallet, Maricilda Palandi de Mello, Gil Guerra-Júnior, Andréa Trevas Maciel-Guerra
Journal: Sexual Development
Sex Dev (2022) 16 (4): 242–251.
https://doi.org/10.1159/000526036
Published Online: 14 February 2023
View articletitled, Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review
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Journal Articles

Suggested Cutoff Point for Testosterone by Liquid Chromatography with Tandem Mass Spectrometry (LC-MS/MS) after Stimulation with Recombinant Human Chorionic Gonadotropin

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Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Leticia R. de Oliveira, Carlos A. Longui, Guilherme Guaragna-Filho, José L. da Costa, Rafael Lanaro, Maria I. Chiamolera, Maricilda P. de Mello, André M. Morcillo, Andrea T. Maciel-Guerra, Gil Guerra-Junior
Journal: Sexual Development
Sex Dev (2022) 16 (4): 266–269.
https://doi.org/10.1159/000519422
Published Online: 14 February 2023
View articletitled, Suggested Cutoff Point for Testosterone by Liquid Chromatography with Tandem Mass Spectrometry (LC-MS/MS) after Stimulation with Recombinant Human Chorionic Gonadotropin
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Journal Articles

Trends in Time Regarding Sex Assignment of Patients with Disorders of Sex Development: Experience of an Interdisciplinary Service

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Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Julia P. Vicentin, Mayra de Souza El Beck, Carlos W. Germano, Juliana G. R. Andrade, Beatriz A. Barros, Roberto B. de Paive e Silva, Marcio L. Miranda, Nilma L. Viguetti-Campos, Tarsis A. P. Vieira, Tais N. Mazzola, Mara S. Guaragna, Helena Fabbri-Scallet, Maricilda P. Mello, Antonia P. Marques-de-Faria, Andrea T. Maciel-Guerra, Gil Guerra-Junior
Journal: Sexual Development
Sex Dev (2022) 16 (4): 236–241.
https://doi.org/10.1159/000520704
Published Online: 14 February 2023
View articletitled, Trends in Time Regarding Sex Assignment of Patients with Disorders of Sex Development: Experience of an Interdisciplinary Service
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Journal Articles

Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?

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Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Helena Fabbri-Scallet, Ralf Werner, Mara S. Guaragna, Juliana G.R. de Andrade, Andrea T. Maciel-Guerra, Nadine C. Hornig, Olaf Hiort, Gil Guerra-Júnior, Maricilda P. de Mello
Journal: Sexual Development
Sex Dev (2022) 16 (4): 252–260.
https://doi.org/10.1159/000524956
Published Online: 14 February 2023
View articletitled, Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?
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Journal Articles

Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias

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Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Barbara Leitao Braga, Nathalia Lisboa Gomes, Mirian Y. Nishi, Bruna L. Freire, Rafael L. Batista, Jose A. D. Faria Junior, Mariana F.A. Funari, Anna F. Figueredo Benedetti, Amanda de Moraes Narcizo, Lais Cavalca Cardoso, Antonio M. Lerario, Gil Guerra-Junior, Elaine M. Frade Costa, Sorahia Domenice, Alexander A.L. Jorge, Berenice B. Mendonca
Journal: Sexual Development
Sex Dev (2022) 16 (1): 27–33.
https://doi.org/10.1159/000518091
Published Online: 09 September 2021
View articletitled, Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias
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Journal Articles

Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature

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Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Octavio O. Santos-Neto, Marina H. Mariano, Antonia P. Marques-de-Faria, Juliana G. R. Andrade, Tarsis A. P. Vieira, Nilma L. Viguetti-Campos, Ana P. dos Santos, Maricilda P. Mello, Tais N. Mazzola, Mara S. Guaragna, Helena Fabbri-Scallet, Durval Damiani, Leandra Steinmetz, Marianna R. Ferreira, Paula A. Saito, Jean C. Sievert, Andrea T. Maciel-Guerra, Gil Guerra-Junior
Journal: Sexual Development
Sex Dev (2021) 14 (1-6): 3–11.
https://doi.org/10.1159/000513415
Published Online: 02 March 2021
View articletitled, Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature
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Journal Articles

Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis

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Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Juliana G.R. Andrade, Helena Fabbri-Scallet, Ana P. dos Santos, Martine Cools, Ralf Werner, Olaf Hiort, Maricilda P. de Mello, Gil Guerra-Júnior, Andrea T. Maciel-Guerra
Journal: Sexual Development
Sex Dev (2020) 13 (4): 171–177.
https://doi.org/10.1159/000504239
Published Online: 10 December 2019
View articletitled, Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis
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Journal Articles

A Search for Disorders of Sex Development among Infertile Men

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Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Rafael S. Yabiku, Mara S. Guaragna, Lizandra M. de Sousa, Helena Fabbri-Scallet, Taís N. Mazzola, Cristiane S.C. Piveta, Marcela L. de Souza, Gil Guerra-Júnior, Maricilda P. de Mello, Andréa T. Maciel-Guerra
Journal: Sexual Development
Sex Dev (2018) 12 (6): 275–280.
https://doi.org/10.1159/000493877
Published Online: 30 October 2018
View articletitled, A Search for Disorders of Sex Development among Infertile Men
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Journal Articles

Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome

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Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Reginaldo J. Petroli, Olaf Hiort, Dagmar Struve, Julia K. Gesing, Fernanda C. Soardi, Angela M. Spínola-Castro, Karla Melo, Ivo J. Prado Arnhold, Andréa T. Maciel-Guerra, Gil Guerra-Junior, Ralf Werner, Maricilda P. de Mello
Journal: Sexual Development
Sex Dev (2018) 11 (5-6): 238–247.
https://doi.org/10.1159/000484882
Published Online: 14 December 2017
View articletitled, Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome
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Journal Articles

Imaging Techniques in the Diagnostic Journey of Disorders of Sex Development

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Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Gil Guerra-Junior, Kleber C. Andrade, Irene H.K. Barcelos, Andréa T. Maciel-Guerra
Journal: Sexual Development
Sex Dev (2018) 12 (1-3): 95–99.
https://doi.org/10.1159/000479453
Published Online: 22 August 2017
View articletitled, Imaging Techniques in the Diagnostic Journey of Disorders of Sex Development
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Journal Articles

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

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Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Monica M. França, Antonio M. Lerario, Mariana F.A. Funari, Mirian Y. Nishi, Amanda M. Narcizo, Maricilda P. de Mello, Gil Guerra-Junior, Andrea T. Maciel-Guerra, Berenice B. Mendonça
Journal: Sexual Development
Sex Dev (2017) 11 (3): 137–142.
https://doi.org/10.1159/000477193
Published Online: 08 June 2017
View articletitled, A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family
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Journal Articles

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

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Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Mónica Fernández-Cancio, Emilio García-García, Carmen González-Cejudo, María-Angeles Martínez-Maestre, Miguel-Angel Mangas-Cruz, Gil Guerra-Junior, Maricilda Pandi de Mello, Ivo J.P. Arnhold, Mirian Y. Nishi, Berenice Bilharinho Mendonça, Elena García-Arumí, Laura Audí, Eduardo Tizzano, Antonio Carrascosa
Journal: Sexual Development
Sex Dev (2017) 11 (2): 70–77.
https://doi.org/10.1159/000468160
Published Online: 04 April 2017
View articletitled, 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
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Journal Articles

WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome

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Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Mara S. Guaragna, Juliana G. Ribeiro de Andrade, Bárbara de Freitas Carli, Vera M.S. Belangero, Andréa T. Maciel-Guerra, Gil Guerra-Júnior, Maricilda P. de Mello
Journal: Sexual Development
Sex Dev (2017) 11 (1): 34–39.
https://doi.org/10.1159/000454821
Published Online: 13 January 2017
View articletitled, WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome
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Journal Articles

NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations

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Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Helena C. Fabbri, Juliana G. Ribeiro de Andrade, Andréa T. Maciel-Guerra, Gil Guerra-Júnior, Maricilda P. de Mello
Journal: Sexual Development
Sex Dev (2016) 10 (4): 191–199.
https://doi.org/10.1159/000448013
Published Online: 28 July 2016
View articletitled, NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations
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Journal Articles

Preserved Fertility in a Patient with Gynecomastia Associated with the p.Pro695Ser Mutation in the Androgen Receptor

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Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Reginaldo J. Petroli, Olaf Hiort, Dagmar Struve, Andréa T. Maciel-Guerra, Gil Guerra-Júnior, Maricilda Palandi de Mello, Ralf Werner
Journal: Sexual Development
Sex Dev (2015) 8 (6): 350–355.
https://doi.org/10.1159/000368862
Published Online: 15 November 2014
View articletitled, Preserved Fertility in a Patient with Gynecomastia Associated with the p.Pro695Ser Mutation in the Androgen Receptor
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