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Journal Articles

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

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

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

Journal Articles

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

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

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?

Journal Articles

Clinical, Biochemical, and Molecular Characterization of Indian Children with Clinically Suspected Androgen Insensitivity Syndrome

Subject Area:

Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health

Anil Kumar, Rajni Sharma, Mohammed Faruq, Manoj Kumar, Shilpa Sharma, Ralf Werner, Olaf Hiort, Jain Vandana

Sex Dev (2022) 16 (1): 34–45.

https://doi.org/10.1159/000519047

Published Online: 22 October 2021

View articletitled, Clinical, Biochemical, and Molecular Characterization of Indian Children with Clinically Suspected Androgen Insensitivity Syndrome

Journal Articles

Spectrum of Pathogenic Variants in SRD5A2 in Indian Children with 46,XY Disorders of Sex Development and Clinically Suspected Steroid 5α-Reductase 2 Deficiency

Subject Area:

Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health

Anil Kumar, Rajni Sharma, Mohammed Faruq, Varun Suroliya, Manoj Kumar, Shilpa Sharma, Ralf Werner, Olaf Hiort, Vandana Jain

Sex Dev (2020) 13 (5-6): 228–239.

https://doi.org/10.1159/000509812

Published Online: 05 September 2020

View articletitled, Spectrum of Pathogenic Variants in SRD5A2 in Indian Children with 46,XY Disorders of Sex Development and Clinically Suspected Steroid 5α-Reductase 2 Deficiency

Journal Articles

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

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

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

Journal Articles

Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop

Subject Area:

Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health

Sex Dev (2018) 12 (5): 225–231.

https://doi.org/10.1159/000490081

Published Online: 23 June 2018

View articletitled, Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop

Journal Articles

Endoscopy and Laparoscopy in Disorders of Sex Development

Subject Area:

Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health

Kianusch Tafazzoli, Lutz Wünsch, Marie Bouteleux, Judith Lindert, Tim Schulz, Wiebke Birnbaum, Louise Marshall, Olaf Hiort, Ludger Tüshaus

Sex Dev (2018) 12 (1-3): 100–105.

https://doi.org/10.1159/000486871

Published Online: 08 February 2018

View articletitled, Endoscopy and Laparoscopy in Disorders of Sex Development

Journal Articles

Concluding Remarks - From Bench to Bed

Subject Area:

Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health

Olaf Hiort

Sex Dev (2018) 12 (1-3): 155–157.

https://doi.org/10.1159/000486880

Published Online: 07 February 2018

View articletitled, Concluding Remarks - From Bench to Bed

Journal Articles

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

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

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

Journal Articles

Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When?

Subject Area:

Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health

Ulla Döhnert, Lutz Wünsch, Olaf Hiort

Sex Dev (2017) 11 (4): 171–174.

https://doi.org/10.1159/000478082

Published Online: 19 July 2017

View articletitled, Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When?

Journal Articles

Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation

Subject Area:

Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health

Ralf Werner, Isabel Mönig, Julia August, Clemens Freiberg, Ralf Lünstedt, Benedikt Reiz, Lutz Wünsch, Paul-Martin Holterhus, Alexandra Kulle, Ulla Döhnert, Stefan A. Wudy, Annette Richter-Unruh, Christoph Thorns, Olaf Hiort

Sex Dev (2016) 9 (5): 260–268.

https://doi.org/10.1159/000442309

Published Online: 18 December 2015

View articletitled, Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation

Journal Articles

Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia

Subject Area:

Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health

Alexandre Serra, Friederike Denzer, Olaf Hiort, Thomas F. Barth, Doris Henne-Bruns, Gotthold Barbi, Günther Rettenberger, Martin Wabitsch, Walter Just, Clothilde Leriche

Sex Dev (2015) 9 (3): 136–143.

https://doi.org/10.1159/000430897

Published Online: 03 June 2015

View articletitled, Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia

Journal Articles

Characteristic Features of Reproductive Hormone Profiles in Late Adolescent and Adult Females with Complete Androgen Insensitivity Syndrome

Subject Area:

Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health

Ulla Doehnert, Silvano Bertelloni, Ralf Werner, Eleonora Dati, Olaf Hiort

Sex Dev (2015) 9 (2): 69–74.

https://doi.org/10.1159/000371464

Published Online: 19 March 2015

View articletitled, Characteristic Features of Reproductive Hormone Profiles in Late Adolescent and Adult Females with Complete Androgen Insensitivity Syndrome

Journal Articles

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

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

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

Journal Articles

46,XY Disorder of Sex Development in a Sudanese Patient Caused by a Novel Mutation in the HSD17B3 Gene

Subject Area:

Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health

Mona Ellaithi, Ralf Werner, Felix G. Riepe, Nils Krone, Alexandra E. Kulle, Tayseer Diab, Alaa K. Kamel, Wiebke Arlt, Paul-Martin Holterhus, Omyma Sabir, Olaf Hiort

Sex Dev (2014) 8 (4): 151–155.

https://doi.org/10.1159/000363201

Published Online: 12 June 2014

View articletitled, 46,XY Disorder of Sex Development in a Sudanese Patient Caused by a Novel Mutation in the HSD17B3 Gene

Journal Articles

Preface

Subject Area:

Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health

Silvano Bertelloni, Olaf Hiort

Sex Dev (2010) 4 (4-5): 191.

https://doi.org/10.1159/000315960

Published Online: 03 September 2010

View articletitled, Preface

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

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

Clinical, Biochemical, and Molecular Characterization of Indian Children with Clinically Suspected Androgen Insensitivity Syndrome

Spectrum of Pathogenic Variants in SRD5A2 in Indian Children with 46,XY Disorders of Sex Development and Clinically Suspected Steroid 5α-Reductase 2 Deficiency

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

Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop

Endoscopy and Laparoscopy in Disorders of Sex Development

Concluding Remarks - From Bench to Bed

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

Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When?

Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation

Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia

Characteristic Features of Reproductive Hormone Profiles in Late Adolescent and Adult Females with Complete Androgen Insensitivity Syndrome

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

46,XY Disorder of Sex Development in a Sudanese Patient Caused by a Novel Mutation in the HSD17B3 Gene

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