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Items: 18

Select item 101512951.

A case of Potter sequence with WT1 mutation

Miwa Yoshino, Wataru Shimabukuro, Mina Takeichi, Junya Omura, Chie Yokota, Junko Yamamoto, Koichi Nakanishi, Naoya Morisada, Kandai Nozu, Kazumoto Iijima, Yasuhiko Takahashi

CEN Case Rep. 2023 May; 12(2): 184–188. Published online 2022 Oct 13. doi: 10.1007/s13730-022-00742-x

PMCID:: PMC10151295

Article PDF–1.3M

Select item 97424672.

Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

Jin Zhang, Kwan Leong Woo, Yongxiong Hai, Shimin Wang, Ying Lin, Ying Huang, Xiaofang Peng, HongShi Wu, Shaoling Zhang, Li Yan, Yan Li

Front Endocrinol (Lausanne) 2022; 13: 1020880. Published online 2022 Nov 28. doi: 10.3389/fendo.2022.1020880

PMCID:: PMC9742467

Article PDF–1.6M

Select item 96226813.

Rare combination of simple virilizing form of 21-hydroxylase deficiency, Graves’ disease and 47, XXX in a woman: A case report

Dong Liang, Minmin Han, Linxin Xu, Yi Ren, Yi Zhang, Jianhong Yin, Jing Yang, Yunfeng Liu

Medicine (Baltimore) 2022 Oct 28; 101(43): e31443. Published online 2022 Oct 28. doi: 10.1097/MD.0000000000031443

PMCID:: PMC9622681

Article PDF–514K

Select item 93771034.

Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development

Jia Wei, Jiaqi Wu, Wei Ru, Guangjie Chen, Lei Gao, Daxing Tang

BMC Med Genomics. 2022; 15: 178. Published online 2022 Aug 15. doi: 10.1186/s12920-022-01334-5

PMCID:: PMC9377103

Article PDF–1.3M

Select item 87537385.

The Genetic Sex of Two Intersexual Horses and Some Notes on the Karyotype of Normal Horses

Set Bornstein

Acta Vet Scand. 1967; 8(4): 291–300. Published online 1967 Dec 1. doi: 10.1186/BF03547818

PMCID:: PMC8753738

Summary PDF–1.5M

Select item 80432396.

A Case of Trisomy 22 in a Live Hereford Calf

K. Christensen, L. Juul

Acta Vet Scand. 1999; 40(1): 85–88. Published online 1999 Mar 1. doi: 10.1186/BF03547044

PMCID:: PMC8043239

Summary PDF–644K

Select item 80265207.

Ontogeny of estrogen receptors in human male and female fetal reproductive tracts

Gerald R. Cunha, Yi Li, Cao Mei, Amber Derpinghaus, Laurence S. Baskin

Differentiation. Author manuscript; available in PMC 2022 Mar 1.

Published in final edited form as: Differentiation. 2021 Mar-Apr; 118: 107–131. Published online 2020 Oct 17. doi: 10.1016/j.diff.2020.10.001

PMCID:: PMC8026520

Article PDF–21M

Select item 73897588.

以严重高血压就诊的17α-羟化酶缺乏症

魏红玲, 鲁珊, 王新利, 李佳蔚, 崔蕴璞, 姚燕生

Zhongguo Dang Dai Er Ke Za Zhi. 2018 Aug 25; 20(8): 675–679. Chinese. doi: 10.7499/j.issn.1008-8830.2018.08.014

PMCID:: PMC7389758

Article PDF–1.4M

Select item 65715439.

Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia

Mei Yan, Julaiti Dilihuma, Yanfei Luo, Baoerhan Reyilanmu, Yiping Shen, Maimaiti Mireguli

J Clin Res Pediatr Endocrinol. 2019 Jun; 11(2): 211–217. Published online 2019 May 28. doi: 10.4274/jcrpe.galenos.2018.2018.0197

PMCID:: PMC6571543

Article PDF–1.5M

Select item 480521610.

High-Dose Hook Effect in 17-Hydroxyprogesterone Assay in a Patient with 21-Hydroxylase Deficiency

Mesut Parlak, Hamit Yaşar Ellidağ, Doğa Türkkahraman

J Clin Res Pediatr Endocrinol. 2015 Dec; 7(4): 329–332. Published online 2015 Dec 3. doi: 10.4274/jcrpe.2180

PMCID:: PMC4805216

Article PDF–85K

Select item 474405111.

The Presence of Clitoromegaly in the Nonclassical Form of 21-Hydroxylase Deficiency Could Be Partially Modulated by the CAG Polymorphic Tract of the Androgen Receptor Gene

Vivian Oliveira Moura-Massari, Flávia Siqueira Cunha, Larissa Garcia Gomes, Diogo Bugano Diniz Gomes, José Antônio Miguel Marcondes, Guiomar Madureira, Berenice Bilharinho de Mendonca, Tânia A. Sartori Sanchez Bachega

PLoS One. 2016; 11(2): e0148548. Published online 2016 Feb 5. doi: 10.1371/journal.pone.0148548