Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 31 Records) |
Query Trace: PAX2[original query] |
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A common variant of the PAX2 gene is associated with reduced newborn kidney size. Journal of the American Society of Nephrology : JASN 2007 Jun 18 (6): 1915-21. Quinlan Jacklyn, Lemire Mathieu, Hudson Thomas, Qu Huiqi, Benjamin Alice, Roy Anne, Pascuet Elena, Goodyer Meigan, Raju Chandhana, Zhang Zhao, Houghton Fiona, Goodyer Pa |
Common variants of the glial cell-derived neurotrophic factor gene do not influence kidney size of the healthy newborn. Pediatric nephrology (Berlin, Germany) 2009 Jun 24 (6): 1151-7. Zhang Zhao, Quinlan Jackie, Grote David, Lemire Mathieu, Hudson Thomas, Benjamin Alice, Roy Anne, Pascuet Elena, Goodyer Meigan, Raju Chandhana, Houghton Fiona, Bouchard Maxime, Goodyer Pa |
Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux. Journal of the American Society of Nephrology : JASN 2010 Jan 21 (1): 113-23. Cordell Heather J, Darlay Rebecca, Charoen Pimphen, Stewart Aisling, Gullett Ambrose M, Lambert Heather J, Malcolm Sue, Feather Sally A, Goodship Timothy H J, Woolf Adrian S, Kenda Rajko B, Goodship Judith A, |
Copy number variations and primary open-angle glaucoma. Investigative ophthalmology & visual science 2011 52 (10): 7122-33. Davis Lea K, Meyer Kacie J, Schindler Emily I, Beck John S, Rudd Danielle S, Grundstad A Jason, Scheetz Todd E, Braun Terry A, Fingert John H, Alward Wallace L M, Kwon Young H, Folk James C, Russell Stephen R, Wassink Thomas H, Sheffield Val C, Stone Edwin |
PAX2 in 192 Chinese women with Müllerian duct abnormalities: mutation analysis. Reproductive biomedicine online 2012 Aug 25 (2): 219-22. Wang Peng, Zhao Han, Sun Mei, Li Yuan, Chen Zi-Jia |
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 |
PAX2 polymorphisms and congenital abnormalities of the kidney and urinary tract in a Brazilian pediatric population: evidence for a role in vesicoureteral reflux. Molecular diagnosis & therapy 2014 Aug 18 (4): 451-7. de Miranda Débora Marques, Dos Santos Júnior Augusto César Soares, Dos Reis Geisilaine Soares, Freitas Izabella Silva, Carvalho Thiago Guimarães Rosa, de Marco Luiz Armando Cunha, Oliveira Eduardo Araújo, Simões E Silva Ana Cristi |
Association of the paired box 2 gene polymorphism with the susceptibility and pathogenesis of Henoch-Schönlein purpura in children. Molecular medicine reports 2015 Mar 11 (3): 1997-2003. Chen Jing, Fang Xiangling, Dang Xiqiang, Wu Xiaochuan, Yi Zhuw |
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 |
Controlled expression of Drosophila homeobox loci using the Hostile takeover system. Developmental dynamics : an official publication of the American Association of Anatomists 2015 Jun 244 (6): 808-25. Javeed Naureen, Tardi Nicholas J, Maher Maggie, Singari Swetha, Edwards Kevin |
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 |
[The morphological and immunohistochemical characteristics of changes in the fallopian tube mucosa in ovarian epithelial tumors]. Arkhiv patologii 0 78 (2): 3-9. Asaturova A V, Ezhova L S, Faizullina N M, Sannikova M V, Khabas G |
Genetic association between PAX2 and mullerian duct anomalies in Han Chinese females. Journal of assisted reproduction and genetics 2016 Oct . Xu Zuying, Wu Shinan, Xing Qiong, Wang Xi, Xiang Huifen, Xu Yuping, Wang Jing, He Xiaojin, Wang Binbin, Cao Yunx |
Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes. Investigative ophthalmology & visual science 2015 Dec 56 (13): 8365-72. Sun Wenmin, Huang Li, Xu Yan, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Gao Bei, Wang Panfeng, Guo Xiangming, Zhang Qingjio |
Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways. Scientific reports 2017 9 7 (1): 9992. Ma Xiaoyin, Ma Zhiwei, Jiao Xiaodong, Hejtmancik J Fieldi |
Clinical Phenotypes Associated to Engrailed 2 Gene Alterations in a Series of Neuropediatric Patients. Frontiers in neuroanatomy 2018 8 12 61. Carratala-Marco Francisco, Andreo-Lillo Patricia, Martinez-Morga Marta, Escamez-Martínez Teresa, Botella-López Arancha, Bueno Carlos, Martinez Salvad |
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 |
Determination of genetic effects and functional SNPs of bovine HTR1B gene on milk fatty acid traits. BMC genomics 2021 7 22 (1): 575. Cao Mingyue, Shi Lijun, Peng Peng, Han Bo, Liu Lin, Lv Xiaoqing, Ma Zhu, Zhang Shengli, Sun Dongxi |
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 |
Phenotypes and genotypes underlying paradoxical pupillary reaction in children. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2022 6 26 (4): 205-207. Khan Arif |
[Genetic analysis of a patient with Papillorenal syndrome due to variant of PAX2 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 10 39 (10): 1120-1123. Zhao Xuechao, Zheng Yuting, Liu Ning, Wang Conghui, Zhao Ganye, Zhang Junjun, Kong Xiangdo |
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure. Kidney international reports 2023 10 8 (10): 2126-2135. Yishay Ben-Moshe, Omer Shlomovitz, Danit Atias-Varon, Orly Haskin, Efrat Ben-Shalom, Hadas Shasha Lavsky, Oded Volovelsky, Shrikant Mane, Dror Ben-Ruby, Guy Chowers, Karl Skorecki, Yael Borovitz, Maayan Kagan, Nofar Mor, Yulia Khavkin, Shimrit Tzvi-Behr, Shirley Pollack, Moran Plonsky Toder, Michael Geylis, Aviad Schnapp, Rachel Becker-Cohen, Irith Weissman, Ruth Schreiber, Miriam Davidovits, Yaacov Frishberg, Daniella Magen, Ortal Barel, Asaf Vivan |
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 |
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- Page last updated:Apr 22, 2024
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