Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 32 Records) |
Query Trace: ISL1[original query] |
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Chromosome 5 and Gilles de la Tourette syndrome: Linkage in a large pedigree and association study of six candidates in the region. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009 Jan 150B (1): 95-103. Laurin Nancy, Wigg Karen G, Feng Yu, Sandor Paul, Barr Cathy |
Common variation in ISL1 confers genetic susceptibility for human congenital heart disease. PloS one 2010 5 (5): e10855. Stevens Kristen N, Hakonarson Hakon, Kim Cecilia E, Doevendans Pieter A, Koeleman Bobby P C, Mital Seema, Raue Jennifer, Glessner Joseph T, Coles John G, Moreno Victor, Granger Anne, Gruber Stephen B, Gruber Peter |
Screening for mutations in the ISL1 gene in patients with thyroid dysgenesis. Journal of endocrinological investigation 0 34 (7): e149-52. Ferrara A M, Rossi G, Zampella E, Di Candia S, Pagliara V, Nettore I C, Capalbo D, De Sanctis L, Baserga M, Salerno M C, Fenzi G, Macchia P |
Association of variants in genes involved in pancreatic ß-cell development and function with type 2 diabetes in North Indians. Journal of human genetics 2011 Oct 56 (10): 695-700. Chavali Sreenivas, Mahajan Anubha, Tabassum Rubina, Dwivedi Om Prakash, Chauhan Ganesh, Ghosh Saurabh, Tandon Nikhil, Bharadwaj Dwaipay |
ISL1 common variant rs1017 is not associated with susceptibility to congenital heart disease in a Chinese population. Genetic testing and molecular biomarkers 2012 Jul 16 (7): 679-83. Xue Lei, Wang Xiaowei, Xu Jing, Xu Xiaohan, Liu Xiang, Hu Zhibin, Shen Hongbing, Chen Yijia |
Genome-wide association scan of dental caries in the permanent dentition.
BMC oral health 2012 Dec 12 (1): 1. Wang X, Shaffer JR, Zeng Z, Begum F, Vieira AR, Noel J, Anjomshoaa I, Cuenco KT, Lee MK, Beck J, Boerwinkle E, Cornelis MC, Hu FB, Crosslin DR, Laurie CC, Nelson SC, Doheny KF, Pugh EW, Polk DE, Weyant RJ, Crout R, McNeil DW, Weeks DE, Feingold E, Marazita ML |
Lack of association of the 3'-UTR polymorphism (rs1017) in the ISL1 gene and risk of congenital heart disease in the white population. Pediatric cardiology 2013 Apr 34 (4): 938-41. Cresci Monica, Vecoli Cecilia, Foffa Ilenia, Pulignani Silvia, Ait-Ali Lamia, Andreassi Maria Graz |
A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity. European journal of heart failure 2012 Nov . Friedrich FW, Dilanian G, Khattar P, Juhr D, Gueneau L, Charron P, Fressart V, Vilquin JT, Isnard R, Gouya L, Richard P, Hammoudi N, Komajda M, Bonne G, Eschenhagen T, Dubourg O, Villard E, Carrier L |
Association between ISL1 variants and susceptibility to ventricular septal defect in a Chinese cohort. Molecular diagnosis & therapy 2013 Apr 17 (2): 101-6. Lang Jilu, Tian Weichen, Sun Xi |
Exploratory genotype-phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate. Journal of anatomy 2014 Jun 224 (6): 688-709. Miller Steven F, Weinberg Seth M, Nidey Nichole L, Defay David K, Marazita Mary L, Wehby George L, Moreno Uribe Lina |
Genetic variations of ISL1 associated with human congenital heart disease in Chinese Han people. Genetics and molecular research : GMR 2014 13 (1): 1329-38. Luo Z L, Sun H, Yang Z Q, Ma Y H, Gu Y, He Y Q, Wei D, Xia L B, Yang B H, Guo |
Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.
PLoS genetics 2015 Mar 11 (3): e1005024. Draaken Markus, Knapp Michael, Pennimpede Tracie, Schmidt Johanna M, Ebert Anne-Karolin, Rösch Wolfgang, Stein Raimund, Utsch Boris, Hirsch Karin, Boemers Thomas M, Mangold Elisabeth, Heilmann Stefanie, Ludwig Kerstin U, Jenetzky Ekkehart, Zwink Nadine, Moebus Susanne, Herrmann Bernhard G, Mattheisen Manuel, Nöthen Markus M, Ludwig Michael, Reutter Hei |
Role of the LF-SINE-Derived Distal ISL1 Enhancer in Patients with Classic Bladder Exstrophy. Journal of pediatric genetics 2017 8 6 (3): 169-173. Zhang Rong, Knapp Michael, Kause Franziska, Reutter Heiko, Ludwig Micha |
Candidate gene analyses of 3-dimensional dentoalveolar phenotypes in subjects with malocclusion. American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics 2017 Mar 151 (3): 539-558. Weaver Cole A, Miller Steven F, da Fontoura Clarissa S G, Wehby George L, Amendt Brad A, Holton Nathan E, Allareddy Veeratrishul, Southard Thomas E, Moreno Uribe Lina |
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development. Scientific reports 2017 02 7 42170. Zhang Rong, Knapp Michael, Suzuki Kentaro, Kajioka Daiki, Schmidt Johanna M, Winkler Jonas, Yilmaz Öznur, Pleschka Michael, Cao Jia, Kockum Christina Clementson, Barker Gillian, Holmdahl Gundela, Beaman Glenda, Keene David, Woolf Adrian S, Cervellione Raimondo M, Cheng Wei, Wilkins Simon, Gearhart John P, Sirchia Fabio, Di Grazia Massimo, Ebert Anne-Karolin, Rösch Wolfgang, Ellinger Jörg, Jenetzky Ekkehart, Zwink Nadine, Feitz Wout F, Marcelis Carlo, Schumacher Johannes, Martinón-Torres Federico, Hibberd Martin Lloyd, Khor Chiea Chuen, Heilmann-Heimbach Stefanie, Barth Sandra, Boyadjiev Simeon A, Brusco Alfredo, Ludwig Michael, Newman William, Nordenskjöld Agneta, Yamada Gen, Odermatt Benjamin, Reutter Hei |
Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort. Human genome variation 2018 4 5 18009. Arkani Samara, Cao Jia, Lundin Johanna, Nilsson Daniel, Källman Thomas, Barker Gillian, Holmdahl Gundela, Clementsson Kockum Christina, Matsson Hans, Nordenskjöld Agne |
BER gene polymorphisms associated with key molecular events in bladder cancer. Experimental oncology 2018 Dec 40 (4): 288-298. Smal M P, Kuzhir T D, Savina N V, Nikitchenko N V, Rolevich A I, Krasny S A, Goncharova R |
ASCL1 is a MYCN- and LMO1-dependent member of the adrenergic neuroblastoma core regulatory circuitry. Nature communications 2019 12 10 (1): 5622. Wang Lu, Tan Tze King, Durbin Adam D, Zimmerman Mark W, Abraham Brian J, Tan Shi Hao, Ngoc Phuong Cao Thi, Weichert-Leahey Nina, Akahane Koshi, Lawton Lee N, Rokita Jo Lynne, Maris John M, Young Richard A, Look A Thomas, Sanda Takao |
Genetic architecture of laterality defects revealed by whole exome sequencing. European journal of human genetics : EJHG 2019 1 27 (4): 563-573. Li Alexander H, Hanchard Neil A, Azamian Mahshid, D'Alessandro Lisa C A, Coban-Akdemir Zeynep, Lopez Keila N, Hall Nancy J, Dickerson Heather, Nicosia Annarita, Fernbach Susan, Boone Philip M, Gambin Tomaz, Karaca Ender, Gu Shen, Yuan Bo, Jhangiani Shalini N, Doddapaneni HarshaVardhan, Hu Jianhong, Dinh Huyen, Jayaseelan Joy, Muzny Donna, Lalani Seema, Towbin Jeffrey, Penny Daniel, Fraser Charles, Martin James, Lupski James R, Gibbs Richard A, Boerwinkle Eric, Ware Stephanie M, Belmont John |
[Discovery and functional analysis of a novel ISL1 variant associated with congenital heart defect]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 8 37 (9): 972-975. Dong Binbin, Liu Xingyuan, Wang Tianming, Yang Yiqi |
ISL1 loss-of-function variation causes familial atrial fibrillation. European journal of medical genetics 2020 8 63 (11): 104029. Wu Shao-Hui, Wang Xin-Hua, Xu Ying-Jia, Gu Jia-Ning, Yang Chen-Xi, Qiao Qi, Guo Xiao-Juan, Guo Yu-Han, Qiu Xing-Biao, Jiang Wei-Feng, Yang Yi-Qi |
Rare Variants in Genes Linked to Appetite Control and Hypothalamic Development in Early-Onset Severe Obesity. Frontiers in endocrinology 2020 3 11 81. Loid Petra, Mustila Taina, Mäkitie Riikka E, Viljakainen Heli, Kämpe Anders, Tossavainen Päivi, Lipsanen-Nyman Marita, Pekkinen Minna, Mäkitie Ou |
Correlations between ISL1 rs1017 polymorphism and congenital heart disease risk: A PRISMA-compliant meta-analysis. Medicine 2020 Jan 99 (2): e18715. Ding Zhaohong, Yang Wenke, Yi Kang, Ding Yunhan, Zhou Dan, Xie Xiaodong, You T |
First report of polymorphisms in MTRR, GATA4, VEGF, and ISL1 genes in Pakistani children with isolated ventricular septal defects (VSD). Italian journal of pediatrics 2021 3 47 (1): 70. Sarwar Sumbal, Ehsan Farah, Shabana , Tahir Amna, Jamil Mahrukh, Shahid Saleem Ullah, Khan Asim, Hasnain Shahi |
PRRX1 Loss-of-Function Mutations Underlying Familial Atrial Fibrillation. Journal of the American Heart Association 2021 11 10 (23): e023517. Guo Xiao-Juan, Qiu Xing-Biao, Wang Jun, Guo Yu-Han, Yang Chen-Xi, Li Li, Gao Ri-Feng, Ke Zun-Ping, Di Ruo-Min, Sun Yu-Min, Xu Ying-Jia, Yang Yi-Qi |
Association of ISL1 polymorphisms and eosinophilic levels among otitis media patients. Journal of clinical laboratory analysis 2021 Jan e23702. Kondyarpu Abhishek, Ray Chinmay Sundar, Panda Khirod Chandra, Biswal Narayan Chandra, Ramchander Puppala Venk |
Identification and functional analysis of genetic variants of ISL1 gene promoter in human atrial septal defects. The journal of gene medicine 2022 9 24 (12): e3450. Yin Xiu-Yun, Chen Huan-Xin, Chen Zhuo, Yang Qin, Han Jun, He Guo-W |
Study of variants associated with ventricular septal defects (VSDs) highlights the unique genetic structure of the Pakistani population. Italian journal of pediatrics 2022 7 48 (1): 124. Sarwar Sumbal, Shabana , Tahir Amna, Liaqat Zainab, Naseer Saher, Seme Rani Summeya, Mehmood Sabahat, Shahid Saleem Ullah, Hasnain Shahi |
Genetic studies in the Pakistani population reveal novel associations with ventricular septal defects (VSDs). BMC pediatrics 2023 2 23 (1): 67. Sarwar Sumbal, Shabana , Sajjad Khadija, Hasnain Shahi |
Genome-Wide Association Study and Identification of Candidate Genes for Intramuscular Fat Fatty Acid Composition in Ningxiang Pigs. Animals : an open access journal from MDPI 2023 10 13 (20): . Qinghua Zeng, Hu Gao, Shishu Yin, Yinglin Peng, Fang Yang, Yawei Fu, Xiaoxiao Deng, Yue Chen, Xiaohong Hou, Qian Wang, Zhao Jin, Gang Song, Jun He, Yulong Yin, Kang |
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- Page last updated:Apr 22, 2024
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