Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

Autor: Zhang J; Department of Endocrinology, Sun Yat-sen Memorial Hospital of Sun Yat-sen University, Guangzhou, China., Woo KL; Department of Endocrinology, Sun Yat-sen Memorial Hospital of Sun Yat-sen University, Guangzhou, China., Hai Y; Department of Endocrinology, Sun Yat-sen Memorial Hospital of Sun Yat-sen University, Guangzhou, China., Wang S; Department of Endocrinology, Sun Yat-sen Memorial Hospital of Sun Yat-sen University, Guangzhou, China.; Department of Endocrinology, Jiangmen Central Hospital, Jiangmen, China., Lin Y; Department of Endocrinology, Sun Yat-sen Memorial Hospital of Sun Yat-sen University, Guangzhou, China., Huang Y; Department of Endocrinology, Sun Yat-sen Memorial Hospital of Sun Yat-sen University, Guangzhou, China.; Department of Endocrinology and Metabolism, Zhuhai People's Hospital, Zhuhai, China., Peng X; Cellular and Molecular Diagnostics Center, Sun Yat-sen Memorial Hospital of Sun Yat-sen University, Guangzhou, China., Wu H; Department of Endocrinology, Sun Yat-sen Memorial Hospital of Sun Yat-sen University, Guangzhou, China., Zhang S; Department of Endocrinology, Sun Yat-sen Memorial Hospital of Sun Yat-sen University, Guangzhou, China., Yan L; Department of Endocrinology, Sun Yat-sen Memorial Hospital of Sun Yat-sen University, Guangzhou, China., Li Y; Department of Endocrinology, Sun Yat-sen Memorial Hospital of Sun Yat-sen University, Guangzhou, China.

Publikováno v: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2022 Nov 28; Vol. 13, pp. 1020880. Date of Electronic Publication: 2022 Nov 28 (Print Publication: 2022).

A spectrum of recessiveness among Mendelian disease variants in UK Biobank.

Autor: Barton AR; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Bioinformatics and Integrative Genomics Program, Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA. Electronic address: alisonbarton@g.harvard.edu., Hujoel MLA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Mukamel RE; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Sherman MA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA 02139, USA., Loh PR; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address: poruloh@broadinstitute.org.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2022 Jul 07; Vol. 109 (7), pp. 1298-1307. Date of Electronic Publication: 2022 May 31.

Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review.

Autor: Unal E; Department of Pediatric Endocrinology, Gazi Yaşargil Training and Research Hospital, Diyarbakır, Turkey. edip76@yahoo.com., Demiral M; Department of Pediatric Endocrinology, Gazi Yaşargil Training and Research Hospital, Diyarbakır, Turkey., Yıldırım R; Department of Pediatric Endocrinology, Diyarbakır Children's Hospital, Diyarbakır, Turkey., Taş FF; Department of Pediatric Endocrinology, Gazi Yaşargil Training and Research Hospital, Diyarbakır, Turkey., Ceylaner S; Department of Medical Genetics, Intergen Genetic Diagnosis Center, Ankara, Turkey., Özbek MN; Department of Pediatric Endocrinology, Gazi Yaşargil Training and Research Hospital, Diyarbakır, Turkey.

Publikováno v: Hormones (Athens, Greece) [Hormones (Athens)] 2021 Jun; Vol. 20 (2), pp. 293-298. Date of Electronic Publication: 2020 Oct 29.

Establishment of an induced pluripotent stem cell line from a Antley-Bixler Syndrome (ABS) patient with the homozygote mutation p.R457H (c.1370G>A) in POR gene.

Autor: Guo X; Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China., Wang D; Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China., Shan X; Department of Pediatric Endocrine Genetics and Metabolism, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China., Yang L; Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Neurosurgery, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China., Ding Y; Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China., Chen H; Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China., Rong X; Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China., Chu M; Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China. Electronic address: chmping@hotmail.com., Lin J; Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Neurosurgery, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China. Electronic address: linjian3222@126.com., Chen C; Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China. Electronic address: chencd@wmu.edu.cn.

Publikováno v: Stem cell research [Stem Cell Res] 2021 Apr; Vol. 52, pp. 102261. Date of Electronic Publication: 2021 Feb 18.

[Clinical and genetic analysis of a pedigree affected with cytochrome P450 oxidoreductase deficiency].

Autor: Li H; Department of Genetics and Endocrinology, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com., Dong R, Zhang K, Lyu Y, Gao M, Gai Z, Liu Y

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Sep 10; Vol. 37 (9), pp. 1005-1008.