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Items: 1 to 20 of 66

1.
46,XX Testicular Disorders of Sex Development With DMD Gene Mutation: First Case Report Identified Prenatally by Integrated Analyses in China
Jianlian Deng, Haoqing Zhang, Caiyun Li, Hui Huang, Saijun Liu, Huanming Yang, Kaili Xie, Qiong Wang, Dongzhu Lei, Jing Wu
Front Genet. 2019; 10: 1350. Published online 2020 Feb 19. doi: 10.3389/fgene.2019.01350
PMCID:
PMC7045042
AbstractArticlePDF–1.5M
2.
Possible misdiagnosis of 46,XX testicular disorders of sex development in infertile males
Tong Chen, Linlin Tian, Xianlong Wang, Demin Fan, Gang Ma, Rong Tang, Xujun Xuan
Int J Med Sci. 2020; 17(9): 1136–1141. Published online 2020 May 11. doi: 10.7150/ijms.46058
PMCID:
PMC7294919
AbstractArticlePDF–346K
3.
A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication
Gyung Min Lee, Jung Min Ko, Choong Ho Shin, Sei Won Yang
Ann Pediatr Endocrinol Metab. 2014 Jun; 19(2): 108–112. Published online 2014 Jun 30. doi: 10.6065/apem.2014.19.2.108
PMCID:
PMC4114044
AbstractArticlePDF–1.0M
4.
46 XX male syndrome with hypogonadotropic hypogonadism: A case report
Mehmet M Yalcin, Cigdem Ozkan, Mujde Akturk, Ferda Emriye Percin, Alev Altinova, Ayhan Karakoc, Goksun Ayvaz, Nuri Cakir
North Clin Istanb. 2019; 6(3): 308–311. Published online 2018 Sep 5. doi: 10.14744/nci.2018.57625
PMCID:
PMC6790926
AbstractArticlePDF–208K
5.
Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing
Luigia De Falco, Giovanni Savarese, Teresa Suero, Sonia Amabile, Raffaella Ruggiero, Pasquale Savarese, Antonio Fico
Clin Case Rep. 2019 Oct; 7(10): 1977–1981. Published online 2019 Sep 7. doi: 10.1002/ccr3.2389
PMCID:
PMC6787777
AbstractArticlePDF–421K
6.
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
AbstractArticlePDF–666K
7.
Exploring uncharted territory: A case report on de la Chapelle syndrome presenting as male subfertility
Sivalingarajah Raguraman, Balasingam Balagobi, K.A.U.C. Dayananda, H.M.P.B. Thilakarathne, Mahalingam Aravinthan
Int J Surg Case Rep. 2024 May; 118: 109630. Published online 2024 Apr 5. doi: 10.1016/j.ijscr.2024.109630
PMCID:
PMC11024652
AbstractArticlePDF–765K
8.
Urogenital anomalies and urinary incontinence in an English Cocker Spaniel dog with XX sex reversal
Hakyoung Yoon, Sung‐Hee Han, Jaehwan Kim, Kihoon Kim, Kidong Eom
J Vet Intern Med. 2018 May-Jun; 32(3): 1166–1171. Published online 2018 Mar 23. doi: 10.1111/jvim.15119
PMCID:
PMC5980331
AbstractArticlePDF–1.0M
9.
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
AbstractArticlePDF–561K
10.
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
11.
46,XX male syndrome with mullerianosis of the urinary bladder: A new clinical entity
S. Mayouf, M.A. Mseddi, R. Ben Amor, S. Charfi, R. Frikha, M. Hadj Slimen
Urol Case Rep. 2021 Nov; 39: 101801. Published online 2021 Aug 24. doi: 10.1016/j.eucr.2021.101801
PMCID:
PMC8463819
AbstractArticlePDF–3.0M
12.
Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive
Qiu-Yue Wu, Na Li, Wei-Wei Li, Tian-Fu Li, Cui Zhang, Ying-Xia Cui, Xin-Yi Xia, Jin-Sheng Zhai
BMC Urol. 2014; 14: 70. Published online 2014 Aug 28. doi: 10.1186/1471-2490-14-70
PMCID:
PMC4149805
AbstractArticlePDF–1.2M
13.
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
14.
The importance of genetic research in cases of severe male factor infertility: A case of 46,XX testicular disorder of sex development
Dalana Faleiro, Betina Iser, André Anjos da Silva, Marcos Alexandre Höher
JBRA Assist Reprod. 2022 Jul-Sep; 26(3): 559–562. doi: 10.5935/1518-0557.20210092
PMCID:
PMC9355451
AbstractArticlePDF–645K
15.
A Case of de la Chapelle Syndrome
Nirja Thaker, Pratapsingh Parihar, Rajasbala Dhande, Nishant Raj, Bhavik Unadkat
Cureus. 2023 Nov; 15(11): e48150. Published online 2023 Nov 2. doi: 10.7759/cureus.48150
PMCID:
PMC10693380
AbstractArticlePDF–590K
16.
The Regulation of Sox9 Gene Expression by the GATA4/FOG2 Transcriptional Complex in Dominant XX Sex Reversal Mouse Models.
Nikolay L. Manuylov, Yuko Fujiwara, Igor I. Adameyko, Francis Poulat, Sergei G. Tevosian
Dev Biol. Author manuscript; available in PMC 2008 Jul 15.
Published in final edited form as: Dev Biol. 2007 Jul 15; 307(2): 356–367. Published online 2007 May 3. doi: 10.1016/j.ydbio.2007.04.040
PMCID:
PMC2020840
AbstractArticlePDF–1.9M
17.
A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221)
Arthur Clement, Théo Dominot, Jeremy Chammas, Martine Montagnon, Marie Delcroix, Jérôme Pfeffer, Jean Michel Dupont, Aziza Lebbar, Patrice Clement, François Vialard
Genes (Basel) 2023 Jan; 14(1): 81. Published online 2022 Dec 27. doi: 10.3390/genes14010081
PMCID:
PMC9858770
AbstractArticlePDF–634K
18.
Ventral-Onlay Buccal Mucosal Graft Urethroplasty of a Perineal Fistula in a 26-Year-Old Patient With 46 XX Male Syndrome: A Case Report
Jalil Hosseini, Arshia Zamani Hajiabadi, Ali Mohammad Mirjalili
Am J Mens Health. 2023 Mar-Apr; 17(2): 15579883231156663. Published online 2023 Apr 10. doi: 10.1177/15579883231156663
PMCID:
PMC10103251
AbstractArticlePDF–532K
19.
Genetics, Genomics, and Molecular Biology of Sex Determination in Small Animals
Vicki N. Meyers-Wallen
Theriogenology. Author manuscript; available in PMC 2007 Jan 22.
Published in final edited form as: Theriogenology. 2006 Oct; 66(6-7): 1655–1658. Published online 2006 Feb 8. doi: 10.1016/j.theriogenology.2006.01.029
PMCID:
PMC1779942
AbstractArticlePDF–74K
20.
A Site-Specific, Single-Copy Transgenesis Strategy to Identify 5′ Regulatory Sequences of the Mouse Testis-Determining Gene Sry
Alexander Quinn, Kenichi Kashimada, Tara-Lynne Davidson, Ee Ting Ng, Kallayanee Chawengsaksophak, Josephine Bowles, Peter Koopman
PLoS One. 2014; 9(4): e94813. Published online 2014 Apr 17. doi: 10.1371/journal.pone.0094813
PMCID:
PMC3990564
AbstractArticlePDF–1.4M

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