Human Genome Epidemiology Literature Finder
Records 1 - 25 (of 25 Records) |
Query Trace: RPGRIP1L[original query] |
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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clinical genetics 2008 Aug 74 (2): 164-70. Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy J L, Barrano G, Bertini E, Emma F, Rigoli L, , Dallapiccola B, Gleeson J G, Valente E |
Common variation in the fat mass and obesity-associated (FTO) gene confers risk of obesity and modulates BMI in the Chinese population. Diabetes 2008 Aug 57 (8): 2245-52. Chang Yi-Cheng, Liu Pi-Hua, Lee Wei-Jei, Chang Tien-Jyun, Jiang Yi-Der, Li Hung-Yuan, Kuo Shan-Shan, Lee Kuang-Chin, Chuang Lee-Mi |
Association analysis of type 2 diabetes Loci in type 1 diabetes. Diabetes 2008 Jul 57 (7): 1983-6. Qu Hui-Qi, Grant Struan F A, Bradfield Jonathan P, Kim Cecilia, Frackelton Edward, Hakonarson Hakon, Polychronakos Constant |
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Journal of medical genetics 2011 Feb 48 (2): 105-16. Otto Edgar A, Ramaswami Gokul, Janssen Sabine, Chaki Moumita, Allen Susan J, Zhou Weibin, Airik Rannar, Hurd Toby W, Ghosh Amiya K, Wolf Matthias T, Hoppe Bernd, Neuhaus Thomas J, Bockenhauer Detlef, Milford David V, Soliman Neveen A, Antignac Corinne, Saunier Sophie, Johnson Colin A, Hildebrandt Friedhelm, |
Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations. PloS one 2011 6 (8): e23021. Fahim Abigail T, Bowne Sara J, Sullivan Lori S, Webb Kaylie D, Williams Jessica T, Wheaton Dianna K, Birch David G, Daiger Stephen |
Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR. Advances in experimental medicine and biology 2012 723 313-20. Fahim Abigail T, Bowne Sara J, Sullivan Lori S, Webb Kaylie D, Williams Jessica T, Wheaton Dianna K, Birch David G, Daiger Stephen |
Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
Genetic epidemiology 2011 Feb 35 (2): 125-32. Jiang Yuan, Zhang Hepi |
Genetic association of the gene encoding RPGRIP1L with susceptibility to vascular dementia. Gene 2012 May 499 (1): 160-2. Woo Jiyoung, Lee Chaeyou |
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. Journal of medical genetics 2012 Dec 49 (12): 756-67. Halbritter Jan, Diaz Katrina, Chaki Moumita, Porath Jonathan D, Tarrier Brendan, Fu Clementine, Innis Jamie L, Allen Susan J, Lyons Robert H, Stefanidis Constantinos J, Omran Heymut, Soliman Neveen A, Otto Edgar |
A 680 kb duplication at the FTO locus in a kindred with obesity and a distinct body fat distribution. European journal of human genetics : EJHG 2013 Dec 21 (12): 1417-22. Davies Robert W, Lau Paulina, Naing Thet, Nikpay Majid, Doelle Heather, Harper Mary Ellen, Dent Robert, McPherson Ru |
A systematic mapping approach of 16q12.2/FTO and BMI in more than 20,000 African Americans narrows in on the underlying functional variation: results from the Population Architecture using Genomics and Epidemiology (PAGE) study. PLoS genetics 2013 Jan 9 (1): 1. Peters U, North KE, Sethupathy P, Buyske S, Haessler J, Jiao S, Fesinmeyer MD, Jackson RD, Kuller LH, Rajkovic A, Lim U, Cheng I, Schumacher F, Wilkens L, Li R, Monda K, Ehret G, Nguyen KD, Cooper R, Lewis CE, Leppert M, Irvin MR, Gu CC, Houston D, Buzkova P, Ritchie M, Matise TC, Le Marchand L, Hindorff LA, Crawford DC, Haiman CA, Kooperberg C |
Complete re-sequencing of a 2Mb topological domain encompassing the FTO/IRXB genes identifies a novel obesity-associated region upstream of IRX5. Genome medicine 2015 7 (1): 126. Hunt Lilian E, Noyvert Boris, Bhaw-Rosun Leena, Sesay Abdul K, Paternoster Lavinia, Nohr Ellen A, Davey Smith George, Tommerup Niels, Sørensen Thorkild I A, Elgar Gr |
Hypomorphism of Fto and Rpgrip1l causes obesity in mice. The Journal of clinical investigation 2016 Apr . Stratigopoulos George, Burnett Lisa Cole, Rausch Richard, Gill Richard, Penn David Barth, Skowronski Alicja A, LeDuc Charles A, Lanzano Anthony J, Zhang Pumin, Storm Daniel R, Egli Dieter, Leibel Rudolph |
Genetic association of FTO/IRX region with obesity and overweight in the Polish population. PloS one 2017 12 (6): e0180295. Sobalska-Kwapis Marta, Suchanecka Aleksandra, S?omka Marcin, Siewierska-Górska Anna, K?pka Ewa, Strapagiel Domin |
Critical Enzymatic Functions of FTO in Obesity and Cancer. Frontiers in endocrinology 2018 9 396. Deng Xiaolan, Su Rui, Stanford Savanna, Chen Jianj |
Association of fat mass and obesity-associated and retinitis pigmentosa guanosine triphosphatase (GTPase) regulator-interacting protein-1 like polymorphisms with body mass index in Chinese women. Endocrine journal 2018 4 65 (7): 783-791. Chen Boyu, Li Zhiqiang, Chen Jianhua, Ji Jue, Shen Jingyi, Xu Yufeng, Zhao Yingying, Liu Danping, Shen Yinhuan, Zhang Weijie, Shen Jiawei, Wang Yonggang, Shi Yongyo |
The role of Rpgrip1l, a component of the primary cilium, in adipocyte development and function. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2018 Jul 32 (7): 3946-3956. Carli Jayne F Martin, LeDuc Charles A, Zhang Yiying, Stratigopoulos George, Leibel Rudolph |
A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.
American journal of human genetics 2018 Feb . Sung Yun J, Winkler Thomas W, de Las Fuentes Lisa, Bentley Amy R, Brown Michael R, Kraja Aldi T, Schwander Karen, Ntalla Ioanna, Guo Xiuqing, Franceschini Nora, Lu Yingchang, Cheng Ching-Yu, Sim Xueling, Vojinovic Dina, Marten Jonathan, Musani Solomon K, Li Changwei, Feitosa Mary F, Kilpeläinen Tuomas O, Richard Melissa A, Noordam Raymond, Aslibekyan Stella, Aschard Hugues, Bartz Traci M, Dorajoo Rajkumar, Liu Yongmei, Manning Alisa K, Rankinen Tuomo, Smith Albert Vernon, Tajuddin Salman M, Tayo Bamidele O, Warren Helen R, Zhao Wei, Zhou Yanhua, Matoba Nana, Sofer Tamar, Alver Maris, Amini Marzyeh, Boissel Mathilde, Chai Jin Fang, Chen Xu, Divers Jasmin, Gandin Ilaria, Gao Chuan, Giulianini Franco, Goel Anuj, Harris Sarah E, Hartwig Fernando Pires, Horimoto Andrea R V R, Hsu Fang-Chi, Jackson Anne U, Kähönen Mika, Kasturiratne Anuradhani, Kühnel Brigitte, Leander Karin, Lee Wen-Jane, Lin Keng-Hung, 'an Luan Jian, McKenzie Colin A, Meian He, Nelson Christopher P, Rauramaa Rainer, Schupf Nicole, Scott Robert A, Sheu Wayne H H, Stan?áková Alena, Takeuchi Fumihiko, van der Most Peter J, Varga Tibor V, Wang Heming, Wang Yajuan, Ware Erin B, Weiss Stefan, Wen Wanqing, Yanek Lisa R, Zhang Weihua, Zhao Jing Hua, Afaq Saima, Alfred Tamuno, Amin Najaf, Arking Dan, Aung Tin, Barr R Graham, Bielak Lawrence F, Boerwinkle Eric, Bottinger Erwin P, Braund Peter S, Brody Jennifer A, Broeckel Ulrich, Cabrera Claudia P, Cade Brian, Caizheng Yu, Campbell Archie, Canouil Mickaël, Chakravarti Aravinda, , Chauhan Ganesh, Christensen Kaare, Cocca Massimiliano, , Collins Francis S, Connell John M, de Mutsert Renée, de Silva H Janaka, Debette Stephanie, Dörr Marcus, Duan Qing, Eaton Charles B, Ehret Georg, Evangelou Evangelos, Faul Jessica D, Fisher Virginia A, Forouhi Nita G, Franco Oscar H, Friedlander Yechiel, Gao He, , Gigante Bruna, Graff Misa, Gu C Charles, Gu Dongfeng, Gupta Preeti, Hagenaars Saskia P, Harris Tamara B, He Jiang, Heikkinen Sami, Heng Chew-Kiat, Hirata Makoto, Hofman Albert, Howard Barbara V, Hunt Steven, Irvin Marguerite R, Jia Yucheng, Joehanes Roby, Justice Anne E, Katsuya Tomohiro, Kaufman Joel, Kerrison Nicola D, Khor Chiea Chuen, Koh Woon-Puay, Koistinen Heikki A, Komulainen Pirjo, Kooperberg Charles, Krieger Jose E, Kubo Michiaki, Kuusisto Johanna, Langefeld Carl D, Langenberg Claudia, Launer Lenore J, Lehne Benjamin, Lewis Cora E, Li Yize, , Lim Sing Hui, Lin Shiow, Liu Ching-Ti, Liu Jianjun, Liu Jingmin, Liu Kiang, Liu Yeheng, Loh Marie, Lohman Kurt K, Long Jirong, Louie Tin, Mägi Reedik, Mahajan Anubha, Meitinger Thomas, Metspalu Andres, Milani Lili, Momozawa Yukihide, Morris Andrew P, Mosley Thomas H, Munson Peter, Murray Alison D, Nalls Mike A, Nasri Ubaydah, Norris Jill M, North Kari, Ogunniyi Adesola, Padmanabhan Sandosh, Palmas Walter R, Palmer Nicholette D, Pankow James S, Pedersen Nancy L, Peters Annette, Peyser Patricia A, Polasek Ozren, Raitakari Olli T, Renström Frida, Rice Treva K, Ridker Paul M, Robino Antonietta, Robinson Jennifer G, Rose Lynda M, Rudan Igor, Sabanayagam Charumathi, Salako Babatunde L, Sandow Kevin, Schmidt Carsten O, Schreiner Pamela J, Scott William R, Seshadri Sudha, Sever Peter, Sitlani Colleen M, Smith Jennifer A, Snieder Harold, Starr John M, Strauch Konstantin, Tang Hua, Taylor Kent D, Teo Yik Ying, Tham Yih Chung, Uitterlinden André G, Waldenberger Melanie, Wang Lihua, Wang Ya X, Wei Wen Bin, Williams Christine, Wilson Gregory, Wojczynski Mary K, Yao Jie, Yuan Jian-Min, Zonderman Alan B, Becker Diane M, Boehnke Michael, Bowden Donald W, Chambers John C, Chen Yii-Der Ida, de Faire Ulf, Deary Ian J, Esko Tõnu, Farrall Martin, Forrester Terrence, Franks Paul W, Freedman Barry I, Froguel Philippe, Gasparini Paolo, Gieger Christian, Horta Bernardo Lessa, Hung Yi-Jen, Jonas Jost B, Kato Norihiro, Kooner Jaspal S, Laakso Markku, Lehtimäki Terho, Liang Kae-Woei, Magnusson Patrik K E, Newman Anne B, Oldehinkel Albertine J, Pereira Alexandre C, Redline Susan, Rettig Rainer, Samani Nilesh J, Scott James, Shu Xiao-Ou, van der Harst Pim, Wagenknecht Lynne E, Wareham Nicholas J, Watkins Hugh, Weir David R, Wickremasinghe Ananda R, Wu Tangchun, Zheng Wei, Kamatani Yoichiro, Laurie Cathy C, Bouchard Claude, Cooper Richard S, Evans Michele K, Gudnason Vilmundur, Kardia Sharon L R, Kritchevsky Stephen B, Levy Daniel, O'Connell Jeff R, Psaty Bruce M, van Dam Rob M, Sims Mario, Arnett Donna K, Mook-Kanamori Dennis O, Kelly Tanika N, Fox Ervin R, Hayward Caroline, Fornage Myriam, Rotimi Charles N, Province Michael A, van Duijn Cornelia M, Tai E Shyong, Wong Tien Yin, Loos Ruth J F, Reiner Alex P, Rotter Jerome I, Zhu Xiaofeng, Bierut Laura J, Gauderman W James, Caulfield Mark J, Elliott Paul, Rice Kenneth, Munroe Patricia B, Morrison Alanna C, Cupples L Adrienne, Rao Dabeeru C, Chasman Daniel |
Rs3213758 in the RPGRIP1L Gene Associated with Susceptibility to Segmental Vitiligo in a Chinese Han Population. Chinese medical journal 2018 12 131 (24): 3022-3024. Hu Man, Wang Ting-Mei, Dong Ying-Ying, She Qiu-Yun, Gao Sheng, Liu Dong-Xian, Deng Yun-H |
Copy number variants in hypoplastic right heart syndrome. American journal of medical genetics. Part A 2018 10 176 (12): 2760-2767. Giannakou Andreas, Sicko Robert J, Kay Denise M, Zhang Wei, Romitti Paul A, Caggana Michele, Shaw Gary M, Jelliffe-Pawlowski Laura L, Mills James |
Ciliary gene RPGRIP1L is required for hypothalamic arcuate neuron development. JCI insight 2019 2 4 (3): . Wang Liheng, De Solis Alain J, Goffer Yossef, Birkenbach Kathryn E, Engle Staci E, Tanis Ross, Levenson Jacob M, Li Xueting, Rausch Richard, Purohit Manika, Lee Jen-Yi, Tan Jerica, De Rosa Maria Caterina, Doege Claudia A, Aaron Holly L, Martins Gabriela J, Brüning Jens C, Egli Dieter, Costa Rui, Berbari Nicolas, Leibel Rudolph L, Stratigopoulos Geor |
Evidence that genes involved in hedgehog signaling are associated with both bipolar disorder and high BMI.
Translational psychiatry 2019 Nov 9 (1): 315. Pisanu Claudia, Williams Michael J, Ciuculete Diana M, Olivo Gaia, Del Zompo Maria, Squassina Alessio, Schiöth Helgi |
A novel association of rs13334070 in the RPGRIP1L gene with adiposity factors discovered by joint linkage and linkage disequilibrium analysis in Iranian pedigrees: Tehran Cardiometabolic Genetic Study (TCGS). Genetic epidemiology 2019 1 43 (3): 342-351. Javanrouh Niloufar, Soltanian Ali R, Tapak Leili, Azizi Fereidoun, Ott Jurg, Daneshpour Maryam |
Scalable probabilistic PCA for large-scale genetic variation data. PLoS genetics 2020 May 16 (5): e1008773. Agrawal Aman, Chiu Alec M, Le Minh, Halperin Eran, Sankararaman Srir |
Novel genetic associations with five aesthetic facial traits: A genome-wide association study in the Chinese population.
Frontiers in genetics 2022 13 967684. Wang Peiqi, Sun Xinghan, Miao Qiang, Mi Hao, Cao Minyuan, Zhao Shan, Wang Yiyi, Shu Yang, Li Wei, Xu Heng, Bai Ding, Zhang Y |
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- Page last updated:Apr 22, 2024
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