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Select item 110953051.

Sirenomelia: An anatomical assessment and genetic sex determination of two cases

Stephanie L. Vander Pol, Jennifer J. MacKenzie, Karen J. Harrison, Conrad W. Reifel, Roger M. L. Smith, Logan Bale, Stephen C. Pang, Sherry A. M. Taylor

J Anat. 2024 Jun; 244(6): 1093–1101. Published online 2024 Jan 24. doi: 10.1111/joa.14015

PMCID:: PMC11095305

Abstract Article PDF–2.6M

Select item 10506692.

An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.

A J Green, R N Sandford, B C Davison

J Med Genet. 1996 Jul; 33(7): 594–596. doi: 10.1136/jmg.33.7.594

PMCID:: PMC1050669

Summary Page Browse PDF–575K

Select item 21325073.

Progressive Kidney Degeneration in Mice Lacking Tensin

Su Hao Lo, Qian-Chun Yu, Linda Degenstein, Lan Bo Chen, Elaine Fuchs

J Cell Biol. 1997 Mar 24; 136(6): 1349–1361. doi: 10.1083/jcb.136.6.1349

PMCID:: PMC2132507

Abstract Article PDF–1.7M

Select item 26143794.

Magnetic resonance imaging of urea transporter knockout mice reveals two distinct types of renal pelvic abnormality

Vinitha Jacob, Calista Harbaugh, John R. Dietz, Robert A. Fenton, Soo Mi Kim, Hayo Castrop, Jurgen Schnermann, Mark A. Knepper, Chung-Lin Chou, Stasia A. Anderson

Kidney Int. Author manuscript; available in PMC 2009 Nov 1.

Published in final edited form as: Kidney Int. 2008 Nov; 74(9): 1202–1208. Published online 2008 Aug 13. doi: 10.1038/ki.2008.392

PMCID:: PMC2614379

Abstract Article PDF–1.7M

Select item 27167515.

Renin-Angiotensin System-Growth Factor Cross-Talk: a Novel Mechanism for Ureteric Bud Morphogenesis

Ihor V. Yosypiv

Pediatr Nephrol. Author manuscript; available in PMC 2009 Jul 28.

Published in final edited form as: Pediatr Nephrol. 2009 Jun; 24(6): 1113–1120. Published online 2008 Oct 29. doi: 10.1007/s00467-008-1021-9

PMCID:: PMC2716751

Abstract Article PDF–1018K

Select item 27778556.

The Exstrophy-epispadias complex

Anne-Karoline Ebert, Heiko Reutter, Michael Ludwig, Wolfgang H Rösch

Orphanet J Rare Dis. 2009; 4: 23. Published online 2009 Oct 30. doi: 10.1186/1750-1172-4-23

PMCID:: PMC2777855

Abstract Article PDF–1.4M

Select item 28276867.

SIX1 acts synergistically with TBX18 in mediating ureteral smooth muscle formation

Xuguang Nie, Jianbo Sun, Ronald E. Gordon, Chen-Leng Cai, Pin-Xian Xu

Development. 2010 Mar 1; 137(5): 755–765. doi: 10.1242/dev.045757

PMCID:: PMC2827686

Abstract Article

Select item 30331828.

Esrrg functions in early branch generation of the ureteric bud and is essential for normal development of the renal papilla

Rachel Berry, Louise Harewood, Liming Pei, Malcolm Fisher, David Brownstein, Allyson Ross, William A. Alaynick, Julie Moss, Nicholas D. Hastie, Peter Hohenstein, Jamie A. Davies, Ronald M. Evans, David R. FitzPatrick

Hum Mol Genet. 2011 Mar 1; 20(5): 917–926. Published online 2010 Dec 6. doi: 10.1093/hmg/ddq530

PMCID:: PMC3033182

Abstract Article PDF–778K

Select item 36963529.

Philippe M Campeau, James T Lu, Brian C Dawson, Ivo F A C Fokkema, Stephen P Robertson, Richard A Gibbs, Brendan H Lee

Hum Mutat. Author manuscript; available in PMC 2013 Jun 29.

Published in final edited form as: Hum Mutat. 2012 Nov; 33(11): 1520–1525. Published online 2012 Jul 12. doi: 10.1002/humu.22141

PMCID:: PMC3696352

Abstract Article PDF–1.9M

Select item 416297810.

Early detection of metachronous bile duct cancer in Lynch syndrome: report of a case

Kunitoshi Shigeyasu, Kohji Tanakaya, Takeshi Nagasaka, Hideki Aoki, Toshiyoshi Fujiwara, Kokichi Sugano, Hideki Ishikawa, Teruhiko Yoshida, Yoshihiro Moriya, Yoichi Furukawa, Ajay Goel, Hitoshi Takeuchi

Surg Today. 2014; 44(10): 1975–1981. Published online 2013 Jul 31. doi: 10.1007/s00595-013-0669-3

PMCID:: PMC4162978

Abstract Article PDF–1.1M

Select item 424259511.

Global gene expression profiling identifies ALDH2, CCNE1 and SMAD3 as potential prognostic markers in upper tract urothelial carcinoma

Song Wu, Jiahao Chen, Pei Dong, Shiqiang Zhang, Yingying He, Liang Sun, Jialou Zhu, Yanbing Cheng, Xianxin Li, Aifa Tang, Yi Huang, Yaoting Gui, Chunxiao Liu, Guosheng Yang, Fangjian Zhou, Zhiming Cai, Rongfu Wang

BMC Cancer. 2014; 14: 836. Published online 2014 Nov 18. doi: 10.1186/1471-2407-14-836

PMCID:: PMC4242595

Abstract Article PDF–1.1M

Select item 447186112.

Antagonism of BMP4 Signaling Disrupts Smooth Muscle Investment of the Ureter and Ureteropelvic Junction

Gerald J. Wang, Andrea Brenner-Anantharam, E. Darracott Vaughan, Doris Herzlinger

J Urol. Author manuscript; available in PMC 2015 Jun 18.

Published in final edited form as: J Urol. 2009 Jan; 181(1): 401–407. Published online 2008 Nov 17. doi: 10.1016/j.juro.2008.08.117

PMCID:: PMC4471861

Abstract Article PDF–900K

Select item 471721213.

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9

Emma Tham, Erik A Eklund, Anna Hammarsjö, Per Bengtson, Stefan Geiberger, Kristina Lagerstedt-Robinson, Helena Malmgren, Daniel Nilsson, Gintautas Grigelionis, Peter Conner, Peter Lindgren, Anna Lindstrand, Anna Wedell, Margareta Albåge, Katarzyna Zielinska, Ann Nordgren, Nikos Papadogiannakis, Gen Nishimura, Giedre Grigelioniene

Eur J Hum Genet. 2016 Feb; 24(2): 198–207. Published online 2015 May 13. doi: 10.1038/ejhg.2015.91

PMCID:: PMC4717212

Abstract Article PDF–2.6M

Select item 505855814.

Targeting of the Plzf Gene in the Rat by Transcription Activator-Like Effector Nuclease Results in Caudal Regression Syndrome in Spontaneously Hypertensive Rats

František Liška, Renata Peterková, Miroslav Peterka, Vladimír Landa, Václav Zídek, Petr Mlejnek, Jan Šilhavý, Miroslava Šimáková, Vladimír Křen, Colby G. Starker, Daniel F. Voytas, Zsuzsanna Izsvák, Michal Pravenec

PLoS One. 2016; 11(10): e0164206. Published online 2016 Oct 11. doi: 10.1371/journal.pone.0164206

Correction in:: PLoS One. 2020; 15(1): e0228139.

PMCID:: PMC5058558

Abstract Article PDF–2.6M

Select item 536304215.

Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation

Tomohiro Nakata, Ryo Ishida, Yuu Mihara, Atsuko Fujii, Yoshimoto Inoue, Tetsuro Kusaba, Tsuyoshi Isojima, Yutaka Harita, Chiaki Kanda, Sachiko Kitanaka, Keiichi Tamagaki

BMC Nephrol. 2017; 18: 100. Published online 2017 Mar 23. doi: 10.1186/s12882-017-0516-7

PMCID:: PMC5363042

Abstract Article PDF–1.2M

Select item 547810316.

Renal sodium handling and blood pressure changes in gestational protein-restricted offspring: Role of renal nerves and ganglia neurokinin expression

Augusto H. Custódio, Marcelo C. de Lima, Bárbara Vaccari, Patrícia A. Boer, José A. R. Gontijo

PLoS One. 2017; 12(6): e0179499. Published online 2017 Jun 20. doi: 10.1371/journal.pone.0179499

PMCID:: PMC5478103

Abstract Article PDF–16M

Select item 562909917.

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder

Marilyn C. Jones, Sarah E. Topol, Manuel Rueda, Glenn Oliveira, Tierney Phillips, Emily G. Spencer, Ali Torkamani

Genet Med. 2017 Oct; 19(10): 1179–1183. Published online 2017 Apr 6. doi: 10.1038/gim.2017.20

PMCID:: PMC5629099

Abstract Article PDF–989K

Select item 579105118.

Activated Hedgehog-GLI Signaling Causes Congenital Ureteropelvic Junction Obstruction

Sepideh Sheybani-Deloui, Lijun Chi, Marian V. Staite, Jason E. Cain, Brian J. Nieman, R. Mark Henkelman, Brandon J. Wainwright, S. Steven Potter, Darius J. Bagli, Armando J. Lorenzo, Norman D. Rosenblum

J Am Soc Nephrol. 2018 Feb; 29(2): 532–544. Published online 2017 Nov 6. doi: 10.1681/ASN.2017050482

PMCID:: PMC5791051

Abstract Article

Select item 585905619.

The molecular biology of pelvi-ureteric junction obstruction

Laura Jackson, Mark Woodward, Richard J. Coward

Pediatr Nephrol. 2018; 33(4): 553–571. Published online 2017 Mar 13. doi: 10.1007/s00467-017-3629-0

PMCID:: PMC5859056

Abstract Article PDF–1.8M

Select item 586086420.

Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy

Simeon U Springer, Chung-Hsin Chen, Maria Del Carmen Rodriguez Pena, Lu Li, Christopher Douville, Yuxuan Wang, Joshua David Cohen, Diana Taheri, Natalie Silliman, Joy Schaefer, Janine Ptak, Lisa Dobbyn, Maria Papoli, Isaac Kinde, Bahman Afsari, Aline C Tregnago, Stephania M Bezerra, Christopher VandenBussche, Kazutoshi Fujita, Dilek Ertoy, Isabela W Cunha, Lijia Yu, Trinity J Bivalacqua, Arthur P Grollman, Luis A Diaz, Rachel Karchin, Ludmila Danilova, Chao-Yuan Huang, Chia-Tung Shun, Robert J Turesky, Byeong Hwa Yun, Thomas A Rosenquist, Yeong-Shiau Pu, Ralph H Hruban, Cristian Tomasetti, Nickolas Papadopoulos, Ken W Kinzler, Bert Vogelstein, Kathleen G Dickman, George J Netto

eLife. 2018; 7: e32143. Published online 2018 Mar 20. doi: 10.7554/eLife.32143

Correction in:: eLife. 2018; 7: e43237.

PMCID:: PMC5860864

Abstract Article PDF–1.3M

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