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Items: 16

1.
A genome-wide scan to locate regions associated with familial vesicoureteral reflux
Zsuzsa Bartik, Ulla Sillén, Malin Östensson, Susanne Fransson, Anna Djos, Rosmarie Sjöberg, Tommy Martinsson
Exp Ther Med. 2022 Jan; 23(1): 92. Published online 2021 Nov 28. doi: 10.3892/etm.2021.11015
PMCID:
PMC8674978
AbstractArticlePDF–1.6M
2.
A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5
Christine E Briggs, Chao-Yu Guo, Cynthia Schoettler, Ilina Rosoklija, Andres Silva, Stuart B Bauer, Alan B Retik, Louis Kunkel, Hiep T Nguyen
Eur J Hum Genet. 2010 Feb; 18(2): 245–250. Published online 2009 Aug 19. doi: 10.1038/ejhg.2009.142
PMCID:
PMC2987194
AbstractArticlePDF–243K
3.
ROBO2 Gene Variants Are Associated with Familial Vesicoureteral Reflux
Aida M. Bertoli-Avella, Maria Luisa Conte, Francesca Punzo, Bianca M. de Graaf, Giuliana Lama, Angela La Manna, Cesare Polito, Carolina Grassia, Bruno Nobili, Pier Francesco Rambaldi, Ben A. Oostra, Silverio Perrotta
J Am Soc Nephrol. 2008 Apr; 19(4): 825–831. doi: 10.1681/ASN.2007060692
PMCID:
PMC2390967
AbstractArticle
4.
Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux
Zsuzsa I. Bartik, Ulla Sillén, Anna Djos, Anna Lindholm, Susanne Fransson
PLoS One. 2022; 17(11): e0277524. Published online 2022 Nov 23. doi: 10.1371/journal.pone.0277524
PMCID:
PMC9683562
AbstractArticlePDF–1.8M
5.
Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome
Walter L Miller, Deborah P Merke
Horm Res Paediatr. Author manuscript; available in PMC 2019 May 7.
Published in final edited form as: Horm Res Paediatr. 2018; 89(5): 352–361. Published online 2018 May 7. doi: 10.1159/000481911
PMCID:
PMC6057477
AbstractArticlePDF–1.4M
6.
Absence of PAX2 gene mutations in patients with primary familial vesicoureteric reflux.
K L Choi, L A McNoe, M C French, P J Guilford, M R Eccles
J Med Genet. 1998 Apr; 35(4): 338–339. doi: 10.1136/jmg.35.4.338
PMCID:
PMC1051287
SummaryPage BrowsePDF–389K
7.
Children with vesicoureteric reflux have joint hypermobility and occasional tenascin XB sequence variants
Fatima Tokhmafshan, Jasmine El Andalousi, Vasikar Murugapoopathy, Marie-Lyne Fillion, Sarah Campillo, John-Paul Capolicchio, Roman Jednak, Mohamed El Sherbiny, Sophie Turpin, Joost Schalkwijk, Ken-Ichi Matsumoto, Patrick D. Brophy, Rasheed A. Gbadegesin, Indra R. Gupta
Can Urol Assoc J. 2020 Apr; 14(4): E128–E136. Published online 2019 Nov 5. doi: 10.5489/cuaj.6068
PMCID:
PMC7124173
AbstractArticlePDF–1.2M
8.
Case report: A novel compound heterozygous variant in the TNXB gene causes single kidney agenesis and vesicoureteral reflux
Lei Liang, Haotian Wu, Haixia Meng, Lin Fu, Jianrong Zhao
Front Endocrinol (Lausanne) 2024; 15: 1322395. Published online 2024 Feb 2. doi: 10.3389/fendo.2024.1322395
PMCID:
PMC10869528
AbstractArticlePDF–4.0M
9.
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David A. Fasel, Ekaterina Batourina, Matthew G. Sampson, Monica Bodria, Max Werth, Charlly Kao, Jeremiah Martino, Valentina P. Capone, Asaf Vivante, Shirlee Shril, Byum Hee Kil, Maddalena Marasa, Jun Y. Zhang, Young-Ji Na, Tze Y. Lim, Dina Ahram, Patricia L. Weng, Erin L. Heinzen, Alba Carrea, Giorgio Piaggio, Loreto Gesualdo, Valeria Manca, Giuseppe Masnata, Maddalena Gigante, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A.E. van Wijk, Marijan Saraga, Domenico Santoro, Giovanni Conti, Pasquale Zamboli, Hope White, Dorota Drozdz, Katarzyna Zachwieja, Monika Miklaszewska, Marcin Tkaczyk, Daria Tomczyk, Anna Krakowska, Przemyslaw Sikora, Tomasz Jarmoliński, Maria K. Borszewska-Kornacka, Robert Pawluch, Maria Szczepanska, Piotr Adamczyk, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, Mark G. Dobson, John M. Darlow, Prem Puri, David E. Barton, Susan L. Furth, Bradley A. Warady, Zoran Gucev, Vladimir J. Lozanovski, Velibor Tasic, Isabella Pisani, Landino Allegri, Lida M. Rodas, Josep M. Campistol, Cécile Jeanpierre, Shumyle Alam, Pasquale Casale, Craig S. Wong, Fangming Lin, Débora M. Miranda, Eduardo A. Oliveira, Ana Cristina Simões-e-Silva, Jonathan M. Barasch, Brynn Levy, Nan Wu, Friedhelm Hildebrandt, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Feng Zhang, Hakon Hakonarson, Virginia E. Papaioannou, Cathy L. Mendelsohn, Ali G. Gharavi, Simone Sanna-Cherchi
Nat Genet. Author manuscript; available in PMC 2019 Jul 31.
Published in final edited form as: Nat Genet. 2019 Jan; 51(1): 117–127. Published online 2018 Dec 21. doi: 10.1038/s41588-018-0281-y
PMCID:
PMC6668343
AbstractArticlePDF–952K
10.
Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype
Abeer Fadda, Fiza Butt, Sara Tomei, Sara Deola, Bernice Lo, Amal Robay, Alya Al-Shakaki, Noor Al-Hajri, Ronald Crystal, Marios Kambouris, Ena Wang, Francesco M. Marincola, Khalid A. Fakhro, Chiara Cugno
BMC Med Genet. 2016; 17: 84. Published online 2016 Nov 17. doi: 10.1186/s12881-016-0346-7
PMCID:
PMC5114772
AbstractArticlePDF–1.8M
11.
Genetic link between renal birth defects and congenital heart disease
Jovenal T. San Agustin, Nikolai Klena, Kristi Granath, Ashok Panigrahy, Eileen Stewart, William Devine, Lara Strittmatter, Julie A. Jonassen, Xiaoqin Liu, Cecilia W. Lo, Gregory J. Pazour
Nat Commun. 2016; 7: 11103. Published online 2016 Mar 22. doi: 10.1038/ncomms11103
Correction in:
Nat Commun. 2016; 7: 11910.
PMCID:
PMC4804176
AbstractArticlePDF–3.9M
12.
Targeted Exome Sequencing Integrated with Clinicopathological Information Reveals Novel and Rare Mutations in Atypical, Suspected and Unknown Cases of Alport Syndrome or Proteinuria
Rajshekhar Chatterjee, Mary Hoffman, Paul Cliften, Surya Seshan, Helen Liapis, Sanjay Jain
PLoS One. 2013; 8(10): e76360. Published online 2013 Oct 10. doi: 10.1371/journal.pone.0076360
PMCID:
PMC3794937
AbstractArticlePDF–1.0M
13.
TNXB Mutations Can Cause Vesicoureteral Reflux
Rasheed A. Gbadegesin, Patrick D. Brophy, Adebowale Adeyemo, Gentzon Hall, Indra R. Gupta, David Hains, Bartlomeij Bartkowiak, C. Egla Rabinovich, Settara Chandrasekharappa, Alison Homstad, Katherine Westreich, Guanghong Wu, Yutao Liu, Danniele Holanda, Jason Clarke, Peter Lavin, Angelica Selim, Sara Miller, John S. Wiener, Sherry S. Ross, John Foreman, Charles Rotimi, Michelle P. Winn
J Am Soc Nephrol. 2013 Jul 31; 24(8): 1313–1322. Published online 2013 Apr 25. doi: 10.1681/ASN.2012121148
PMCID:
PMC3736717
AbstractArticle
14.
Chronic renal failure in children.
J. G. Mongeau, P. Robitaille, M. M. Grall
Can Med Assoc J. 1978 Apr 22; 118(8): 907-10, 913.
PMCID:
PMC1818236
SummaryPage BrowsePDF–2.1M
15.
Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract
Stefan Kohl, Daw-Yang Hwang, Gabriel C. Dworschak, Alina C. Hilger, Pawaree Saisawat, Asaf Vivante, Natasa Stajic, Radovan Bogdanovic, Heiko M. Reutter, Elijah O. Kehinde, Velibor Tasic, Friedhelm Hildebrandt
J Am Soc Nephrol. 2014 Sep; 25(9): 1917–1922. Published online 2014 Apr 3. doi: 10.1681/ASN.2013101103
PMCID:
PMC4147986
AbstractArticle
16.
Ablation of Uroplakin III Gene Results in Small Urothelial Plaques, Urothelial Leakage, and Vesicoureteral Reflux
Ping Hu, Fang-Ming Deng, Feng-Xia Liang, Chuan-Min Hu, Anna B. Auerbach, Ellen Shapiro, Xue-Ru Wu, Bechara Kachar, Tung-Tien Sun
J Cell Biol. 2000 Nov 27; 151(5): 961–972. doi: 10.1083/jcb.151.5.961
PMCID:
PMC2174354
AbstractArticlePDF–988K

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