Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.

Autor: Xu, Yue¹ (AUTHOR), Liu, Xuemeng¹ (AUTHOR), Liu, Yang² (AUTHOR), Zhu, Hui¹ (AUTHOR), Wu, Jing³ (AUTHOR), Han, Bing¹ (AUTHOR), Ling, Shiying¹ (AUTHOR), Cao, Ren¹ (AUTHOR), Yao, Haijun⁴ (AUTHOR), Chen, Yan⁵ (AUTHOR), Liu, Yu⁶ (AUTHOR), Rao, Yamin⁷ (AUTHOR), Liu, Xiaoyu³ (AUTHOR), Zhao, Shuangxia³ (AUTHOR), Song, Huaidong³ (AUTHOR) huaidong_s1966@163.com, Qiao, Jie^1,8 (AUTHOR) qiaoj2001@126.com

Publikováno v: Orphanet Journal of Rare Diseases. 12/2/2024, Vol. 19 Issue 1, p1-13. 13p.

Analysis of the CYP21A2 gene pathogenic variants in CAH patients from Surgut using next-generation sequencing (NGS).

Autor: Osinovskaya, Natalia¹ (AUTHOR) natosinovskaya@mail.ru, Vashukova, Elena¹ (AUTHOR), Tarasenko, Olga¹ (AUTHOR), Danilova, Maria¹ (AUTHOR), Glavnova, Olga¹ (AUTHOR), Sultanov, Iskender¹ (AUTHOR), Donnikov, Maxim² (AUTHOR), Nasykhova, Yulia¹ (AUTHOR), Glotov, Andrey¹ (AUTHOR)

Publikováno v: Egyptian Journal of Medical Human Genetics. 3/12/2024, Vol. 25 Issue 1, p1-8. 8p.

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

Autor: Bashamboo A; Human Developmental Genetics, Institut Pasteur, Paris, 75724 France., Donohoue PA; Department of Pediatrics, Endocrinology & Diabetes, Medical college of Wisconsin, Milwaukee, WI, USA., Vilain E; Departments of Human Genetics, Pediatrics and Urology, David Geffen School of Medicine at UCLA, CA, USA., Rojo S; Human Developmental Genetics, Institut Pasteur, Paris, 75724 France., Calvel P; Human Developmental Genetics, Institut Pasteur, Paris, 75724 France., Seneviratne SN; Department of Pediatrics, Faculty of Medicine, University of Colombo, Colombo 08, Sri Lanka., Buonocore F; Genetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK., Barseghyan H; Department of Human Genetics, David Geffen School of Medicine at UCLA, CA, USA., Bingham N; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Vanderbilt University, Nashville, TN, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, TX., Mulukutla SN; Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston TX, USA., Jain M; Department of Molecular and Human Genetics, Baylor College of Medicine, TX., Burrage L; Department of Molecular and Human Genetics, Baylor College of Medicine, TX., Dhar S; Department of Molecular and Human Genetics, Baylor College of Medicine, TX., Balasubramanyam A; Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston TX, USA., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, TX., Dumargne MC; Human Developmental Genetics, Institut Pasteur, Paris, 75724 France., Eozenou C; Human Developmental Genetics, Institut Pasteur, Paris, 75724 France., Suntharalingham JP; Genetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK., de Silva K; Department of Pediatrics, Faculty of Medicine, University of Colombo, Colombo 08, Sri Lanka., Lin L; Genetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK., Bignon-Topalovic J; Human Developmental Genetics, Institut Pasteur, Paris, 75724 France., Poulat F; Genetic and Development Department, Institute of Human Genetics, CNRS, Montpellier, France., Lagos CF; Department of Endocrinology, Pontificia Universidad Católica de Chile, and Universidad San Sebastián, Santiago, Chile., McElreavey K; Human Developmental Genetics, Institut Pasteur, Paris, 75724 France., Achermann JC; Genetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2016 Dec 01; Vol. 25 (23), pp. 5286.

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