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Select item 106924371.

Sex Reversal Syndrome (SRS): A Case of SRY-Positive 46,XX Testicular Disorder

Kishore Shil, Tahmina Ferdousi, Tahniyah Haq, MA Hasanat

J ASEAN Fed Endocr Soc. 2023; 38(2): 141–144. Published online 2023 Jul 30. doi: 10.15605/jafes.038.02.09

PMCID:: PMC10692437

Abstract Article PDF–1.1M

Select item 106667152.

A rare case of Swyer syndrome from Pakistan in a young girl with primary amenorrhea and 46XY genotype

Inshal Jawed, Ayesha Azhar Javed, Syeda Alisha Johar, Daayl N Mirza, Ayesha A Abdani, Asad Ali Khan

Womens Health (Lond) 2023; 19: 17455057231213270. Published online 2023 Nov 22. doi: 10.1177/17455057231213270

PMCID:: PMC10666715

Abstract Article PDF–766K

Select item 104735083.

A new record of the occurrence of Trichuris skrjabini Baskakov, 1924 in goats of Pakistan

Kiran Afshan, Sabahat Khan, Bilal Khan, Sobia Hussain, Sabika Firasat, Ghulam Narjis, Umer Chaudhry

PLoS One. 2023; 18(9): e0290906. Published online 2023 Sep 1. doi: 10.1371/journal.pone.0290906

PMCID:: PMC10473508

Abstract Article PDF–1.5M

Select item 103903524.

Papillomaviruses and cancer: commonalities and differences in HPV carcinogenesis at different sites of the body

Nagayasu Egawa

Int J Clin Oncol. 2023; 28(8): 956–964. Published online 2023 May 18. doi: 10.1007/s10147-023-02340-y

PMCID:: PMC10390352

Abstract Article PDF–950K

Select item 101512955.

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

Abstract Article PDF–1.3M

Select item 98252736.

Defensins: defenders of human reproductive health

Yu-Jia Zhai, Ying Feng, Xue Ma, Fang Ma

Hum Reprod Update. 2023 Jan-Feb; 29(1): 126–154. Published online 2022 Sep 20. doi: 10.1093/humupd/dmac032

PMCID:: PMC9825273

Abstract Article PDF–1.4M

Select item 93992147.

Arthrostoma leucurus sp. n. (Nematoda: Ancylostomatidae), A New Hookworm Species Isolated from Asian Badger in China

Gang Liu, Shiyi Wang, Weihua Liang, Sándor Hornok, Shanshan Zhao, Wenbo Tan, Zhiqiang Liu, Xinli Gu, Yuanzhi Wang

Acta Parasitol. 2022; 67(3): 1447–1454. Published online 2022 Jul 23. doi: 10.1007/s11686-022-00587-5

PMCID:: PMC9399214

Abstract Article PDF–1.0M

Select item 92763728.

Primary seminoma of prostate in a patient with Klinefelter syndrome: A case report

Duncheng Shi, Changjian Chen, Huagang Huang, Jingyu Tian, Jianfang Zhou, Shihua Jin

Medicine (Baltimore) 2022 Apr 29; 101(17): e29117. Published online 2022 May 6. doi: 10.1097/MD.0000000000029117

PMCID:: PMC9276372

Abstract Article PDF–691K

Select item 87537389.

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 779222610.

A nonsense mutation of bone morphogenetic protein-15 (BMP15) causes both infertility and increased litter size in pigs

Gabriele Flossmann, Christine Wurmser, Hubert Pausch, Amabel Tenghe, Jörg Dodenhoff, Günther Dahinten, Kay-Uwe Götz, Ingolf Russ, Ruedi Fries

BMC Genomics. 2021; 22: 38. Published online 2021 Jan 7. doi: 10.1186/s12864-020-07343-x

PMCID:: PMC7792226

Abstract Article PDF–2.6M

Select item 672357511.

A Novel Splice Variant of the Masculinizing Gene Masc with piRNA-Cleavage-Site Defect Functions in Female External Genital Development in the Silkworm, Bombyx mori

Qin Zhao, Juan Li, Mao-Yu Wen, He Wang, Yao Wang, Kai-Xuan Wang, Qiu-Xing Wan, Xing-Fu Zha

Biomolecules. 2019 Aug; 9(8): 318. Published online 2019 Jul 30. doi: 10.3390/biom9080318

PMCID:: PMC6723575

Abstract Article PDF–3.8M

Select item 658114912.

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

Abolfazl Rad, Umut Altunoglu, Rebecca Miller, Reza Maroofian, Kiely N James, Ahmet Okay Çağlayan, Maryam Najafi, Valentina Stanley, Rose-Mary Boustany, Gözde Yeşil, Afsaneh Sahebzamani, Gülhan Ercan-Sencicek, Kolsoum Saeidi, Kaman Wu, Peter Bauer, Zeineb Bakey, Joseph G Gleeson, Natalie Hauser, Murat Gunel, Hulya Kayserili, Miriam Schmidts

J Med Genet. 2019 May; 56(5): 332–339. Published online 2018 Nov 28. doi: 10.1136/jmedgenet-2018-105623

PMCID:: PMC6581149

Abstract Article PDF–1.0M

Select item 656557713.

A case of combined 21‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism

Satoko Umino, Miyuki Kitamura, Yuko Katoh‐Fukui, Maki Fukami, Takeshi Usui, Shuichi Yatsuga, Yasutoshi Koga

Mol Genet Genomic Med. 2019 Jun; 7(6): e730. Published online 2019 May 6. doi: 10.1002/mgg3.730

PMCID:: PMC6565577

Abstract Article PDF–468K

Select item 655688214.

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

Floor A. Duijkers, Andrew McDonald, Georges E. Janssens, Marco Lezzerini, Aldo Jongejan, Silvana van Koningsbruggen, Wendela G. Leeuwenburgh-Pronk, Marcin W. Wlodarski, Sébastien Moutton, Frédéric Tran-Mau-Them, Christel Thauvin-Robinet, Laurence Faivre, Kristin G. Monaghan, Thomas Smol, Odile Boute-Benejean, Roger L. Ladda, Susan L. Sell, Ange-Line Bruel, Riekelt H. Houtkooper, Alyson W. MacInnes

Am J Hum Genet. 2019 Jun 6; 104(6): 1040–1059. Published online 2019 May 9. doi: 10.1016/j.ajhg.2019.03.024