PMC Articles for MedGen (Select 1373282) - PMC

Select item 94468241.

Duplication of SOX3 in an SRY-negative 46,XX male with prostatic utricle: case report and literature review

Jiansheng Wei, Changrong Liu, Minyan Zhang, Shen Liu, Junjie Fu, Peng Lin

BMC Med Genomics. 2022; 15: 188. Published online 2022 Sep 5. doi: 10.1186/s12920-022-01347-0

PMCID:: PMC9446824

Select item 84539732.

Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development

Zhiyu Qian, Katheryn Grand, Andrew Freedman, Maria C. Nieto, Andrea Behlmann, Bahareh M. Schweiger, Pedro A. Sanchez‐Lara

Am J Med Genet A. 2021 Sep; 185(9): 2782–2788. Published online 2021 May 29. doi: 10.1002/ajmg.a.62373

PMCID:: PMC8453973

Abstract Article PDF–1.6M

Select item 73069893.

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene

Caroline Eozenou, Nitzan Gonen, Maria Sol Touzon, Anne Jorgensen, Svetlana A. Yatsenko, Leila Fusee, Alaa K. Kamel, Balazs Gellen, Gabriela Guercio, Priti Singh, Selma Witchel, Andrea J. Berman, Rana Mainpal, Mehdi Totonchi, Anahita Mohseni Meybodi, Masomeh Askari, Tiphanie Merel-Chali, Joelle Bignon-Topalovic, Roberta Migale, Mariana Costanzo, Roxana Marino, Pablo Ramirez, Natalia Perez Garrido, Esperanza Berensztein, Mona K. Mekkawy, John C. Schimenti, Rita Bertalan, Inas Mazen, Ken McElreavey, Alicia Belgorosky, Robin Lovell-Badge, Aleksandar Rajkovic, Anu Bashamboo

Proc Natl Acad Sci U S A. 2020 Jun 16; 117(24): 13680–13688. Published online 2020 Jun 3. doi: 10.1073/pnas.1921676117

PMCID:: PMC7306989

Abstract Article PDF–2.1M

Select item 66812034.

46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review

Marco Terribile, Marco Stizzo, Celeste Manfredi, Carmelo Quattrone, Francesco Bottone, Dario Ranieri Giordano, Giuseppe Bellastella, Davide Arcaniolo, Marco De Sio

Medicina (Kaunas) 2019 Jul; 55(7): 371. Published online 2019 Jul 12. doi: 10.3390/medicina55070371

PMCID:: PMC6681203

Abstract Article PDF–666K

Select item 55574565.

Ten cases with 46,XX testicular disorder of sex development: single center experience

Emre Can Akinsal, Numan Baydilli, Abdullah Demirtas, Cetin Saatci, Oguz Ekmekcioglu

Int Braz J Urol. 2017 Jul-Aug; 43(4): 770–775. doi: 10.1590/S1677-5538.IBJU.2016.0505

PMCID:: PMC5557456

Abstract Article PDF–561K

Select item 55369536.

22q11.2q13 Duplication Including SOX10 causes Sex-reversal and Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome and Hirschsprung Disease

Nadia Falah, Jennifer E. Posey, Willa Thorson, Paul Benke, Mustafa Tekin, Brocha Tarshish, James R Lupski, Tamar Harel

Am J Med Genet A. Author manuscript; available in PMC 2018 Apr 1.

Published in final edited form as: Am J Med Genet A. 2017 Apr; 173(4): 1066–1070. doi: 10.1002/ajmg.a.38109

PMCID:: PMC5536953

Abstract Article PDF–392K

Select item 48752047.

Estrogen deficiency reversibly induces telomere shortening in mouse granulosa cells and ovarian aging in vivo

Sharyn Bayne, He Li, Margaret E. E. Jones, Alex R. Pinto, Michelle van Sinderen, Ann Drummond, Evan R. Simpson, Jun-Ping Liu

Protein Cell. 2011 Apr; 2(4): 333–346. Published online 2011 May 15. doi: 10.1007/s13238-011-1033-2

PMCID:: PMC4875204

Abstract Article PDF–3.3M

Select item 45817398.

A duplication upstream of SOX9 was not positively correlated with the SRY-negative 46,XX testicular disorder of sex development: A case report and literature review

XIN-YI XIA, CUI ZHANG, TIAN-FU LI, QIU-YUE WU, NA LI, WEI-WEI LI, YING-XIA CUI, XIAO-JUN LI, YI-CHAO SHI

Mol Med Rep. 2015 Oct; 12(4): 5659–5664. Published online 2015 Aug 10. doi: 10.3892/mmr.2015.4202

PMCID:: PMC4581739

Abstract Article PDF–1.2M

Select item 42895409.

46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature

Tian-Fu Li, Qiu-Yue Wu, Cui Zhang, Wei-Wei Li, Qing Zhou, Wei-Jun Jiang, Ying-Xia Cui, Xin-Yi Xia, Yi-Chao Shi

BMC Urol. 2014; 14: 104. Published online 2014 Dec 22. doi: 10.1186/1471-2490-14-104

PMCID:: PMC4289540

Abstract Article PDF–1.7M

Select item 409193510.

Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs

Elena Rossi, Orietta Radi, Lisa De Lorenzi, Annalisa Vetro, Debora Groppetti, Enrico Bigliardi, Gaia Cecilia Luvoni, Ada Rota, Giovanna Camerino, Orsetta Zuffardi, Pietro Parma

PLoS One. 2014; 9(7): e101244. Published online 2014 Jul 10. doi: 10.1371/journal.pone.0101244

PMCID:: PMC4091935

Abstract Article PDF–724K

Select item 360767811.

Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports

Xuefeng Gao, Guian Chen, Jing Huang, Quan Bai, Nan Zhao, Minjie Shao, Liping Jiao, Yanling Wei, Liang Chang, Dan Li, Liping Yang

J Assist Reprod Genet. 2013 Mar; 30(3): 431–435. Published online 2013 Feb 3. doi: 10.1007/s10815-013-9939-7

PMCID:: PMC3607678

Abstract Article PDF–175K

Select item 353851512.

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

Remko Hersmus, Hans Stoop, Erin Turbitt, J Wolter Oosterhuis, Stenvert LS Drop, Andrew H Sinclair, Stefan J White, Leendert HJ Looijenga

BMC Med Genet. 2012; 13: 108. Published online 2012 Nov 16. doi: 10.1186/1471-2350-13-108

PMCID:: PMC3538515

Abstract Article PDF–189K

Select item 343996513.

The R-spondin protein family

Wim BM de Lau, Berend Snel, Hans C Clevers

Genome Biol. 2012; 13(3): 242. Published online 2012 Mar 22. doi: 10.1186/gb-2012-13-3-242

PMCID:: PMC3439965

Abstract Article PDF–612K

Select item 312317114.

A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients

Katharina Rall, Gianmaria Barresi, Michael Walter, Sven Poths, Karina Haebig, Karin Schaeferhoff, Birgitt Schoenfisch, Olaf Riess, Diethelm Wallwiener, Michael Bonin, Sara Brucker

Orphanet J Rare Dis. 2011; 6: 32. Published online 2011 May 28. doi: 10.1186/1750-1172-6-32

PMCID:: PMC3123171

Abstract Article PDF–1.9M

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