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Journal Articles

Neonatal Hydrocolpos in Bardet-Biedl syndrome due to a novel frameshift indel in the BBS10 gene

Subject Area:
Genetics
Maria Helena Sircili, Rafael Loch Batista, Enoch Quindere de Sá Barreto, Solange Paiva Bueno, Anna Flávia Figueredo Benedetti, Flora Ladeira Craveiro, Raquel Matinez Ramos, Marcelo Praxedes Monteiro Filho, Sorahia Domenice, Berenice Bilharinho de Mendonça, Francisco Tibor Denes
Journal: Sexual Development
Sex Dev 1–14.
https://doi.org/10.1159/000541137
Published Online: 09 September 2024
View article titled, Neonatal Hydrocolpos in Bardet-Biedl syndrome due to a novel frameshift indel in the BBS10 gene
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Journal Articles

Acknowledgement to Reviewers

Subject Area:
Karger e-Journal Backfile Collection 2023 , Genetics
Journal: Sexual Development
Sex Dev (2023) 17 (4-6): 211.
https://doi.org/10.1159/000537983
Published Online: 05 July 2024
View article titled, Acknowledgement to Reviewers
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Journal Articles

Contents 2023 Vol. 17

Subject Area:
Karger e-Journal Backfile Collection 2023 , Genetics
Journal: Sexual Development
Sex Dev (2023) 17 (4-6): I–IV.
https://doi.org/10.1159/000539966
Published Online: 05 July 2024
View article titled, Contents 2023 Vol. 17
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Journal Articles

Abstracts of the 11th I-DSD Symposium

Subject Area:
Karger e-Journal Backfile Collection 2023 , Genetics
Journal: Sexual Development
Sex Dev (2023) 17 (Suppl. 1): 1–123.
https://doi.org/10.1159/000539511
Published Online: 24 June 2024
View article titled, Abstracts of the 11th I-DSD Symposium
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Journal Articles

Environmental (and Random?) Sex Determination in Endangered and Invasive Phelsuma Geckos

Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Tomáš Peš, Barbora Straková, Lukáš Kratochvíl
Journal: Sexual Development
Sex Dev 1–6.
https://doi.org/10.1159/000538906
Published Online: 13 April 2024
View article titled, Environmental (and Random?) Sex Determination in Endangered and Invasive Phelsuma Geckos
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Journal Articles

Mutations in STARD8 (DLC3) May Cause 46,XY Gonadal Dysgenesis

Subject Area:
Karger e-Journal Backfile Collection 2023 , Genetics
Dmytro Sirokha, Alexey Rayevsky, Olexandra Gorodna, Vitalii Kalynovskyi, Nataliya Zelinska, Oksana Samson, Krystyna Kwiatkowska, Serge Nef, Jadwiga Jaruzelska, Kamila Kusz-Zamelczyk, Ludmila Livshits
Journal: Sexual Development
Sex Dev (2023) 17 (4-6): 181–189.
https://doi.org/10.1159/000537877
Published Online: 08 March 2024
View article titled, Mutations in STARD8 (DLC3) May Cause 46,XY Gonadal Dysgenesis
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Journal Articles

Rare Case of a Turner Syndrome Patient with Metastatic Dysgerminoma and No Y-Chromosomal Material with Pathogenic Variants Found in KIT and MTOR

Subject Area:
Karger e-Journal Backfile Collection 2023 , Genetics
Camilla Mains Balle, Christine Gaasdal Kassentoft, Jolinda Iris van Heusden, Michael Knudsen, Line Raaby, Claus Højbjerg Gravholt
Journal: Sexual Development
Sex Dev (2023) 17 (4-6): 203–210.
https://doi.org/10.1159/000536236
Published Online: 27 January 2024
View article titled, Rare Case of a Turner Syndrome Patient with Metastatic Dysgerminoma and No Y-Chromosomal Material with Pathogenic Variants Found in KIT and MTOR
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Journal Articles

Publisher's Note

Subject Area:
Karger e-Journal Backfile Collection 2023 , Genetics
Journal: Sexual Development
Sex Dev (2023) 17 (4-6): 169.
https://doi.org/10.1159/000535640
Published Online: 11 December 2023
View article titled, Publisher's Note
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Journal Articles

Prelims

Subject Area:
Karger e-Journal Backfile Collection 2023 , Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Journal: Sexual Development
Sex Dev (2023) 17 (2-3): 67–70.
https://doi.org/10.1159/000534834
Published Online: 17 November 2023
View article titled, Prelims
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Journal Articles

Two Novel Heterozygous Variants in RecA2 Domain of DHX37 Cause 46,XY Gonadal Dysgenesis and Testicular Regression Syndrome

Subject Area:
Karger e-Journal Backfile Collection 2023 , Genetics
Hao Yang, Xiuqi Ma, Hongjuan Tian, Jinna Yuan, Dehua Wu, Guanping Dong, Qian Liu, Junfen Fu
Journal: Sexual Development
Sex Dev (2023) 17 (4-6): 198–202.
https://doi.org/10.1159/000534086
Published Online: 15 September 2023
View article titled, Two Novel Heterozygous Variants in RecA2 Domain of DHX37 Cause 46,XY Gonadal Dysgenesis and Testicular Regression Syndrome
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Journal Articles

Lessons Learned from 17 Years of Multidisciplinary Care for Differences of Sex Development Patients at a Single Indonesian Center

Subject Area:
Karger e-Journal Backfile Collection 2023 , Genetics
Sultana M.H. Faradz, Nurin Listyasari, Agustini Utari, Mahayu Dewi Ariani, Achmad Zulfa Juniarto, Ardy Santosa, Annastasia Ediati, Tuula K Rinne, Dineke Westra, Hedi Claahsen-van der Grinten, Frank H de Jong, Stenvert L.S. Drop, Katie Ayers, Andrew Sinclair
Journal: Sexual Development
Sex Dev (2023) 17 (4-6): 170–180.
https://doi.org/10.1159/000534085
Published Online: 12 September 2023
View article titled, Lessons Learned from 17 Years of Multidisciplinary Care for Differences of Sex Development Patients at a Single Indonesian Center
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Journal Articles

Preface to the Special Issue on Ovarian Development

Subject Area:
Karger e-Journal Backfile Collection 2023 , Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Dagmar Wilhelm, Joan Jorgensen
Journal: Sexual Development
Sex Dev (2023) 17 (2-3): 71–72.
https://doi.org/10.1159/000532074
Published Online: 23 August 2023
View article titled, Preface to the Special Issue on Ovarian Development
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Journal Articles

The Effects of Pifithrin-µ on Spermatogonial Stem Cell Viability and Pluripotency

Subject Area:
Karger e-Journal Backfile Collection 2023 , Genetics
Sara Moghadasi, Ehsan Razeghian, Mehdi Shamsara, Farid Heidari
Journal: Sexual Development
Sex Dev (2023) 17 (4-6): 190–197.
https://doi.org/10.1159/000531825
Published Online: 23 August 2023
View article titled, The Effects of Pifithrin-µ on Spermatogonial Stem Cell Viability and Pluripotency
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Journal Articles

The Aging Ovary and the Tales Learned Since Fetal Development

Subject Area:
Karger e-Journal Backfile Collection 2023 , Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Jesus Lopez, Gabe Hohensee, Jing Liang, Meirav Sela, Joshua Johnson, Amanda N. Kallen
Journal: Sexual Development
Sex Dev (2023) 17 (2-3): 156–168.
https://doi.org/10.1159/000532072
Published Online: 18 August 2023
View article titled, The Aging Ovary and the Tales Learned Since Fetal Development
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Journal Articles

Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report

Subject Area:
Karger e-Journal Backfile Collection 2023 , Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Shizuka Kirino, Analia Yogi, Eriko Adachi, Hisae Nakatani, Maki Gau, Ryosei Iemura, Haruki Yamano, Toru Kanamori, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kentaro Okamoto, Tomohiro Udagawa, Kei Takasawa, Tomohiro Morio, Kenichi Kashimada
Journal: Sexual Development
Sex Dev (2023) 17 (1): 51–55.
https://doi.org/10.1159/000529720
Published Online: 02 August 2023
View article titled, Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report
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Journal Articles

Presentation, Diagnosis, and Follow-Up Characteristics of 17α-Hydroxylase Deficiency Cases with Exon 1–6 Deletion (Founder Mutation) in the CYP17A1 Gene: 20-Year Single-Center Experience

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
Ismail Dundar, Aysehan Akinci, Emine Camtosun, Nurdan Ciftci, Leman Kayas
Journal: Sexual Development
Sex Dev (2023) 17 (1): 43–50.
https://doi.org/10.1159/000529158
Published Online: 02 August 2023
View article titled, Presentation, Diagnosis, and Follow-Up Characteristics of 17α-Hydroxylase Deficiency Cases with Exon 1–6 Deletion (Founder Mutation) in the CYP17A1 Gene: 20-Year Single-Center Experience
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Journal Articles

Testicular Architecture of Men with 46,XX Testicular Disorders of Sex Development

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
Mirkka Hiort, Julia Rohayem, Regine Knaf, Sandra Laurentino, Agnethe Berglund, Claus H. Gravholt, Jörg Gromoll, Joachim Wistuba
Journal: Sexual Development
Sex Dev (2023) 17 (1): 32–42.
https://doi.org/10.1159/000528955
Published Online: 02 August 2023
View article titled, Testicular Architecture of Men with 46,XX Testicular Disorders of Sex Development
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Journal Articles

Targeted Next-Generation Sequencing for the Diagnosis of Gene Variants in Patients with 46,XY Disorder of Sex Development

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
Qiang Guo, Wen Wen Zhong, Hua Jian Lai, Lei Ye, Yi Fei Zhang, Jun Tao Li, Jian Guang Qiu, De Juan Wang
Journal: Sexual Development
Sex Dev (2023) 17 (1): 26–31.
https://doi.org/10.1159/000528916
Published Online: 02 August 2023
View article titled, Targeted Next-Generation Sequencing for the Diagnosis of Gene Variants in Patients with 46,XY Disorder of Sex Development
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Journal Articles

Whole-Exome Sequencing Indicated New Candidate Genes Associated with Unilateral Cryptorchidism in Pigs

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
Arthur Nery da Silva, Adriana Mércia Guaratini Ibelli, Igor Ricardo Savoldi, Maurício Egídio Cantão, Eraldo Lourenso Zanella, Mariana Groke Marques, Marcos Vinicius Gualberto Barbosa da Silva, Jane Oliveira de Peixoto, Mônica Corrêa Ledur, Jader Silva Lopes, José Eduardo Vargas, Ricardo Zanella
Journal: Sexual Development
Sex Dev (2023) 17 (1): 56–66.
https://doi.org/10.1159/000528360
Published Online: 02 August 2023
View article titled, Whole-Exome Sequencing Indicated New Candidate Genes Associated with Unilateral Cryptorchidism in Pigs
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Journal Articles

Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations

Subject Area:
Karger e-Journal Backfile Collection 2023 , Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Gorjana Robevska, Chloe Hanna, Jocelyn van den Bergen, John Welch, Jennifer Couper, Shannon Harris, Kriti Joshi, Justin Brown, Matthew Sabin, Andrew Sinclair, Michele O’Connell, Katie Ayers
Journal: Sexual Development
Sex Dev (2023) 17 (1): 8–15.
https://doi.org/10.1159/000527754
Published Online: 02 August 2023
View article titled, Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations
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