Human Genome Epidemiology Literature Finder
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Records 1 - 13 (of 13 Records) |
| Query Trace: Disease and PAX2[original query] |
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| Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. Clinical journal of the American Society of Nephrology : CJASN 2013 Jul 8 (7): 1179-87. Madariaga Leire, Morinière Vincent, Jeanpierre Cécile, Bouvier Raymonde, Loget Philippe, Martinovic Jelena, Dechelotte Pierre, Leporrier Nathalie, Thauvin-Robinet Christel, Jensen Uffe Birk, Gaillard Dominique, Mathieu Michele, Turlin Bruno, Attie-Bitach Tania, Salomon Rémi, Gübler Marie-Claire, Antignac Corinne, Heidet Lauren |
| SNP Variants in RET and PAX2 and Their Possible Contribution to the Primary Hyperoxaluria Type 1 Phenotype. Biochemical genetics 2015 Apr 53 (1-3): 23-8. Coulter-Mackie Marion |
| Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT. Kidney international 2015 Oct . Nicolaou Nayia, Pulit Sara L, Nijman Isaac J, Monroe Glen R, Feitz Wout F J, Schreuder Michiel F, van Eerde Albertien M, de Jong Tom P V M, Giltay Jacques C, van der Zwaag Bert, Havenith Marlies R, Zwakenberg Susan, van der Zanden Loes F M, Poelmans Geert, Cornelissen Elisabeth A M, Lilien Marc R, Franke Barbara, Roeleveld Nel, van Rooij Iris A L M, Cuppen Edwin, Bongers Ernie M H F, Giles Rachel H, Knoers Nine V A M, Renkema Kirsten |
| Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep . Bekheirnia Mir Reza, Bekheirnia Nasim, Bainbridge Matthew N, Gu Shen, Coban Akdemir Zeynep Hande, Gambin Tomek, Janzen Nicolette K, Jhangiani Shalini N, Muzny Donna M, Michael Mini, Brewer Eileen D, Elenberg Ewa, Kale Arundhati S, Riley Alyssa A, Swartz Sarah J, Scott Daryl A, Yang Yaping, Srivaths Poyyapakkam R, Wenderfer Scott E, Bodurtha Joann, Applegate Carolyn D, Velinov Milen, Myers Angela, Borovik Lior, Craigen William J, Hanchard Neil A, Rosenfeld Jill A, Lewis Richard Alan, Gonzales Edmond T, Gibbs Richard A, Belmont John W, Roth David R, Eng Christine, Braun Michael C, Lupski James R, Lamb Dolores |
| Risk allele of gene variant rs6584389 is associated with increased intima-media thickness in patients with type 2 diabetes. VASA. Zeitschrift fur Gefasskrankheiten 2018 Apr 1-6. Kozarova Miriam, Malachovska Zuzana, Zidzik Jozef, Javorsky Martin, Demkova Katarina, Habalova Viera, Tkac Iv |
| Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children. Pediatric nephrology (Berlin, Germany) 2019 Apr . Vivante Asaf, Chacham Orna Staretz, Shril Shirlee, Schreiber Ruth, Mane Shrikant M, Pode-Shakked Ben, Soliman Neveen A, Koneth Irene, Schiffer Mario, Anikster Yair, Hildebrandt Friedhe |
| Expression and prognosis analysis of TET family in acute myeloid leukemia. Aging 2020 3 12 (6): 5031-5047. Zhang Tingjuan, Zhao Yangli, Zhao Yangjing, Zhou Jingdo |
| Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract. Journal of clinical medicine 2020 3 9 (3): . Ahn Yo Han, Lee Chung, Kim Nayoung K D, Park Eujin, Kang Hee Gyung, Ha Il-Soo, Park Woong-Yang, Cheong Hae |
| Molecular Screening of PAX2 Gene Polymorphism in Primary Vesicoureteral Reflux Patients in Taif Governorate, KSA. Pakistan journal of biological sciences : PJBS 2021 9 24 (4): 492-499. I El-Hallous Ehab, Alharthi Abdulla A, Gaber Ahmed, M Hassan Moham |
| Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2-5. Frontiers in genetics 2021 12 697085. Wang Xiaoyuan, Xiao Huijie, Yao Yong, Xu Ke, Liu Xiaoyu, Su Baige, Zhang Hongwen, Guan Na, Zhong Xuhui, Zhang Yanqin, Ding Jie, Wang Fa |
| Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients. Journal of human genetics 2021 3 66 (8): 795-803. Ammar Sawssan, Kanoun Houda, Kammoun Khawla, Domingo-Gallego Andrea, Ruiz Patricia, Lorente-Grandoso Laura, Pybus Marc, Maalej Bayen, Boudawara Tahya, Kamoun Hassen, Ben Hmida Mohamed, Ars Elisabet, Jarraya Faiç |
| Role of genetics in the development of cardiac allograft vasculopathy. Bratislavske lekarske listy 2023 1 124 (3): 193-200. Mayerova Lucie, Chaloupka Anna, Wohlfahrt Peter, Hubacek Jaroslav Alois, Bedanova Helena, Chen Zhi, Kautzner Josef, Melenovsky Vojtech, Malek Ivan, Tomasek Ales, Ozabalova Eva, Krejci Jan, Kovarnik Tomas, Sonka Milan, Pazdernik Mich |
| Early Evidence on Genetic Polymorphisms in Conferring A "Two-Hit" Propensity to Renal Injury in Asian Indian Children. Journal of Indian Association of Pediatric Surgeons 2023 1 27 (6): 741-746. Anand Suramya, Bajpai Minu, Kumar Alok, Kapahtia Siddhar |
- Page last reviewed:Feb 1, 2024
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