U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 18

1.
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
AbstractArticlePDF–1.1M
2.
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
AbstractArticlePDF–1.4M
3.
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
AbstractArticlePDF–1.6M
4.
A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report
Eda Mengen, Gülsüm Kayhan, Pınar Kocaay, Seyit Ahmet Uçaktürk
J Clin Res Pediatr Endocrinol. 2020 Sep; 12(3): 308–314. Published online 2020 Sep 2. doi: 10.4274/jcrpe.galenos.2019.2019.0101
PMCID:
PMC7499138
AbstractArticlePDF–1.5M
5.
Paciente masculino con cariotipo 46 XX negativo para el gen SRY y sin ambigüedad genital: reporte de un caso
Andrea Casas-Vargas, Johanna Galvis, Jenny Blanco, Laura Rengifo, William Usaquén, Harvy Velasco
Biomedica. 2019 Dec; 39(4): 622–630. Spanish. Published online 2019 Dec 30. doi: 10.7705/biomedica.4687
PMCID:
PMC7363349
AbstractArticlePDF–1.3M
6.
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
AbstractArticlePDF–2.1M
7.
Association between polymorphisms in the SOX9 region and canine disorder of sex development (78,XX; SRY-negative) revisited in a multibreed case-control study
Joanna Nowacka-Woszuk, Izabela Szczerbal, Monika Stachowiak, Maciej Szydlowski, Wojciech Nizanski, Stanislaw Dzimira, Artur Maslak, Rita Payan-Carreira, Eline Wydooghe, Tomasz Nowak, Marek Switonski
PLoS One. 2019; 14(6): e0218565. Published online 2019 Jun 20. doi: 10.1371/journal.pone.0218565
PMCID:
PMC6586338
AbstractArticlePDF–717K
8.
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children
Anu Bashamboo, Caroline Eozenou, Anne Jorgensen, Joelle Bignon-Topalovic, Jean-Pierre Siffroi, Capucine Hyon, Attila Tar, Péter Nagy, Janos Sólyom, Zita Halász, Annnabel Paye-Jaouen, Sophie Lambert, David Rodriguez-Buritica, Rita Bertalan, Laetitia Martinerie, Ewa Rajpert-De Meyts, John C. Achermann, Ken McElreavey
Am J Hum Genet. 2018 Mar 1; 102(3): 487–493. Published online 2018 Feb 22. doi: 10.1016/j.ajhg.2018.01.021
PMCID:
PMC5985285
AbstractArticlePDF–1.3M
9.
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
Dorien Baetens, Hans Stoop, Frank Peelman, Anne-Laure Todeschini, Toon Rosseel, Frauke Coppieters, Reiner A. Veitia, Leendert H.J. Looijenga, Elfride De Baere, Martine Cools
Genet Med. 2017 Apr; 19(4): 367–376. Published online 2016 Aug 4. doi: 10.1038/gim.2016.118
PMCID:
PMC5392598
AbstractArticlePDF–2.9M
10.
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
AbstractArticlePDF–3.3M
11.
Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)
Malgorzata Marcinkowska-Swojak, Izabela Szczerbal, Hubert Pausch, Joanna Nowacka-Woszuk, Krzysztof Flisikowski, Stanislaw Dzimira, Wojciech Nizanski, Rita Payan-Carreira, Ruedi Fries, Piotr Kozlowski, Marek Switonski
Sci Rep. 2015; 5: 14696. Published online 2015 Oct 1. doi: 10.1038/srep14696
PMCID:
PMC4589768
AbstractArticlePDF–1.2M
12.
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
AbstractArticlePDF–1.2M
13.
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
AbstractArticlePDF–1.7M
14.
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
AbstractArticlePDF–724K
15.
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
Cristina Gervasini, Chiara Picinelli, Jacopo Azzollini, Daniela Rusconi, Maura Masciadri, Anna Cereda, Cinzia Marzocchi, Giuseppe Zampino, Angelo Selicorni, Romano Tenconi, Silvia Russo, Lidia Larizza, Palma Finelli
BMC Med Genet. 2013; 14: 41. Published online 2013 Apr 3. doi: 10.1186/1471-2350-14-41
PMCID:
PMC3626829
AbstractArticlePDF–507K
16.
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
AbstractArticlePDF–175K
17.
Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions
M. Hitchins, P. Stanier, M. Preece, G. Moore
J Med Genet. 2001 Dec; 38(12): 810–819. doi: 10.1136/jmg.38.12.810
PMCID:
PMC1734774
SummaryPDF–191K
18.
Sibs lacking characteristic features of duplication of distal 17q.
S Ohdo, H Madokoro, T Sonoda, K Ohba
J Med Genet. 1989 Jul; 26(7): 465–468. doi: 10.1136/jmg.26.7.465
PMCID:
PMC1015653
SummaryPage BrowsePDF–989K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center