Human Genome Epidemiology Literature Finder
Records 1 - 22 (of 22 Records) |
Query Trace: ALMS1[original query] |
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Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population. Diabetologia 2006 Jun 49 (6): 1209-13. Patel S, Minton J A L, Weedon M N, Frayling T M, Ricketts C, Hitman G A, McCarthy M I, Hattersley A T, Walker M, Barrett T |
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. Human mutation 2007 Nov 28 (11): 1114-23. Marshall Jan D, Hinman Elizabeth G, Collin Gayle B, Beck Sebastian, Cerqueira Rita, Maffei Pietro, Milan Gabriella, Zhang Weidong, Wilson David I, Hearn Tom, Tavares Purificação, Vettor Roberto, Veronese Caterina, Martin Mitchell, So W Venus, Nishina Patsy M, Naggert Jürgen |
New loci associated with kidney function and chronic kidney disease.
Nature genetics 2010 May 42 (5): 376-84. Köttgen Anna, Pattaro Cristian, Böger Carsten A, Fuchsberger Christian, Olden Matthias, Glazer Nicole L, Parsa Afshin, Gao Xiaoyi, Yang Qiong, Smith Albert V, O'Connell Jeffrey R, Li Man, Schmidt Helena, Tanaka Toshiko, Isaacs Aaron, Ketkar Shamika, Hwang Shih-Jen, Johnson Andrew D, Dehghan Abbas, Teumer Alexander, Paré Guillaume, Atkinson Elizabeth J, Zeller Tanja, Lohman Kurt, Cornelis Marilyn C, Probst-Hensch Nicole M, Kronenberg Florian, Tönjes Anke, Hayward Caroline, Aspelund Thor, Eiriksdottir Gudny, Launer Lenore J, Harris Tamara B, Rampersaud Evadnie, Mitchell Braxton D, Arking Dan E, Boerwinkle Eric, Struchalin Maksim, Cavalieri Margherita, Singleton Andrew, Giallauria Francesco, Metter Jeffrey, de Boer Ian H, Haritunians Talin, Lumley Thomas, Siscovick David, Psaty Bruce M, Zillikens M Carola, Oostra Ben A, Feitosa Mary, Province Michael, de Andrade Mariza, Turner Stephen T, Schillert Arne, Ziegler Andreas, Wild Philipp S, Schnabel Renate B, Wilde Sandra, Munzel Thomas F, Leak Tennille S, Illig Thomas, Klopp Norman, Meisinger Christa, Wichmann H-Erich, Koenig Wolfgang, Zgaga Lina, Zemunik Tatijana, Kolcic Ivana, Minelli Cosetta, Hu Frank B, Johansson Asa, Igl Wilmar, Zaboli Ghazal, Wild Sarah H, Wright Alan F, Campbell Harry, Ellinghaus David, Schreiber Stefan, Aulchenko Yurii S, Felix Janine F, Rivadeneira Fernando, Uitterlinden Andre G, Hofman Albert, Imboden Medea, Nitsch Dorothea, Brandstätter Anita, Kollerits Barbara, Kedenko Lyudmyla, Mägi Reedik, Stumvoll Michael, Kovacs Peter, Boban Mladen, Campbell Susan, Endlich Karlhans, Völzke Henry, Kroemer Heyo K, Nauck Matthias, Völker Uwe, Polasek Ozren, Vitart Veronique, Badola Sunita, Parker Alexander N, Ridker Paul M, Kardia Sharon L R, Blankenberg Stefan, Liu Yongmei, Curhan Gary C, Franke Andre, Rochat Thierry, Paulweber Bernhard, Prokopenko Inga, Wang Wei, Gudnason Vilmundur, Shuldiner Alan R, Coresh Josef, Schmidt Reinhold, Ferrucci Luigi, Shlipak Michael G, van Duijn Cornelia M, Borecki Ingrid, Krämer Bernhard K, Rudan Igor, Gyllensten Ulf, Wilson James F, Witteman Jacqueline C, Pramstaller Peter P, Rettig Rainer, Hastie Nick, Chasman Daniel I, Kao W H, Heid Iris M, Fox Caroline |
Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD. PLoS genetics 2011 Sep 7 (9): e1002292. Böger Carsten A, Gorski Mathias, Li Man, Hoffmann Michael M, Huang Chunmei, Yang Qiong, Teumer Alexander, Krane Vera, O'Seaghdha Conall M, Kutalik Zoltán, Wichmann H-Erich, Haak Thomas, Boes Eva, Coassin Stefan, Coresh Josef, Kollerits Barbara, Haun Margot, Paulweber Bernhard, Köttgen Anna, Li Guo, Shlipak Michael G, Powe Neil, Hwang Shih-Jen, Dehghan Abbas, Rivadeneira Fernando, Uitterlinden André, Hofman Albert, Beckmann Jacques S, Krämer Bernhard K, Witteman Jacqueline, Bochud Murielle, Siscovick David, Rettig Rainer, Kronenberg Florian, Wanner Christoph, Thadhani Ravi I, Heid Iris M, Fox Caroline S, Kao W H, |
Identification of a glutamic acid repeat polymorphism of ALMS1 as a novel genetic risk marker for early-onset myocardial infarction by genome-wide linkage analysis. Circulation. Cardiovascular genetics 2013 Dec 6 (6): 569-78. Ichihara Sahoko, Yamamoto Ken, Asano Hiroyuki, Nakatochi Masahiro, Sukegawa Mayo, Ichihara Gaku, Izawa Hideo, Hirashiki Akihiro, Takatsu Fumimaro, Umeda Hisashi, Iwase Mitsunori, Inagaki Haruo, Hirayama Haruo, Sone Takahito, Nishigaki Kazuhiko, Minatoguchi Shinya, Cho Myeong-Chan, Jang Yangsoo, Kim Hyo-Soo, Park Jeong E, Tada-Oikawa Saeko, Kitajima Hidetoshi, Matsubara Tatsuaki, Sunagawa Kenji, Shimokawa Hiroaki, Kimura Akinori, Lee Jong-Young, Murohara Toyoaki, Inoue Ituro, Yokota Mitsuhi |
Systematic identification of personal tumor-specific neoantigens in chronic lymphocytic leukemia. Blood 2014 Jul 124 (3): 453-62. Rajasagi Mohini, Shukla Sachet A, Fritsch Edward F, Keskin Derin B, DeLuca David, Carmona Ellese, Zhang Wandi, Sougnez Carrie, Cibulskis Kristian, Sidney John, Stevenson Kristen, Ritz Jerome, Neuberg Donna, Brusic Vladimir, Gabriel Stacey, Lander Eric S, Getz Gad, Hacohen Nir, Wu Catherine |
Rare coding variants and X-linked loci associated with age at menarche. Nature communications 2015 6 7756. Lunetta Kathryn L, Day Felix R, Sulem Patrick, Ruth Katherine S, Tung Joyce Y, Hinds David A, Esko Tõnu, Elks Cathy E, Altmaier Elisabeth, He Chunyan, Huffman Jennifer E, Mihailov Evelin, Porcu Eleonora, Robino Antonietta, Rose Lynda M, Schick Ursula M, Stolk Lisette, Teumer Alexander, Thompson Deborah J, Traglia Michela, Wang Carol A, Yerges-Armstrong Laura M, Antoniou Antonis C, Barbieri Caterina, Coviello Andrea D, Cucca Francesco, Demerath Ellen W, Dunning Alison M, Gandin Ilaria, Grove Megan L, Gudbjartsson Daniel F, Hocking Lynne J, Hofman Albert, Huang Jinyan, Jackson Rebecca D, Karasik David, Kriebel Jennifer, Lange Ethan M, Lange Leslie A, Langenberg Claudia, Li Xin, Luan Jian'an, Mägi Reedik, Morrison Alanna C, Padmanabhan Sandosh, Pirie Ailith, Polasek Ozren, Porteous David, Reiner Alex P, Rivadeneira Fernando, Rudan Igor, Sala Cinzia F, Schlessinger David, Scott Robert A, Stöckl Doris, Visser Jenny A, Völker Uwe, Vozzi Diego, Wilson James G, Zygmunt Marek, , , Boerwinkle Eric, Buring Julie E, Crisponi Laura, Easton Douglas F, Hayward Caroline, Hu Frank B, Liu Simin, Metspalu Andres, Pennell Craig E, Ridker Paul M, Strauch Konstantin, Streeten Elizabeth A, Toniolo Daniela, Uitterlinden André G, Ulivi Sheila, Völzke Henry, Wareham Nicholas J, Wellons Melissa, Franceschini Nora, Chasman Daniel I, Thorsteinsdottir Unnur, Murray Anna, Stefansson Kari, Murabito Joanne M, Ong Ken K, Perry John R |
ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. Clinical genetics 2015 May . Xu Y, Guan L, Xiao X, Zhang J, Li S, Jiang H, Jia X, Yin Y, Guo X, Wang J, Zhang |
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. American journal of human genetics 2016 Aug 99 (2): 318-36. Lindstrand Anna, Frangakis Stephan, Carvalho Claudia M B, Richardson Ellen B, McFadden Kelsey A, Willer Jason R, Pehlivan Davut, Liu Pengfei, Pediaditakis Igor L, Sabo Aniko, Lewis Richard Alan, Banin Eyal, Lupski James R, Davis Erica E, Katsanis Nichol |
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. Experimental eye research 2016 Mar . Huang Li, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Sun Wenmin, Xu Yan, Xin Wei, Guo Xiangming, Zhang Qingjio |
Novel caries loci in children and adults implicated by genome-wide analysis of families. BMC oral health 2018 6 18 (1): 98. Govil Manika, Mukhopadhyay Nandita, Weeks Daniel E, Feingold Eleanor, Shaffer John R, Levy Steven M, Vieira Alexandre R, Slayton Rebecca L, McNeil Daniel W, Weyant Robert J, Crout Richard J, Marazita Mary |
Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy. American journal of medical genetics. Part C, Seminars in medical genetics 2020 8 184 (3): 708-717. Hull Sarah, Kiray Gulunay, Chiang John Pei-Wen, Vincent Andrea |
Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients. Saudi journal of biological sciences 2020 1 27 (1): 271-278. Kamal Naglaa M, Sahly Ahmed N, Banaganapalli Babajan, Rashidi Omran M, Shetty Preetha J, Al-Aama Jumana Y, Shaik Noor A, Elango Ramu, Saadah Omar |
Liver Fibrosis and Steatosis in Alström Syndrome: A Genetic Model for Metabolic Syndrome. Diagnostics (Basel, Switzerland) 2021 4 11 (5): . Bettini Silvia, Bombonato Giancarlo, Dassie Francesca, Favaretto Francesca, Piffer Luca, Bizzotto Paola, Busetto Luca, Chemello Liliana, Senzolo Marco, Merkel Carlo, Angeli Paolo, Vettor Roberto, Milan Gabriella, Maffei Piet |
Identification of Genetic Variants in 65 Obesity Related Genes in a Cohort of Portuguese Obese Individuals. Genes 2021 4 12 (4): . Ginete Catarina, Serrasqueiro Bernardo, Silva-Nunes José, Veiga Luísa, Brito Migu |
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients. Genes 2021 3 12 (2): . Bea-Mascato Brais, Solarat Carlos, Perea-Romero Irene, Jaijo Teresa, Blanco-Kelly Fiona, Millán José M, Ayuso Carmen, Valverde Dia |
Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome. American journal of medical genetics. Part A 2021 1 185 (3): 732-742. Dassie Francesca, Lorusso Riccardina, Benavides-Varela Silvia, Milan Gabriella, Favaretto Francesca, Callus Edward, Cagnin Stefano, Reggiani Francesco, Minervini Giovanni, Tosatto Silvio, Vettor Roberto, Semenza Carlo, Maffei Piet |
Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients. Frontiers in genetics 2022 2 13 808919. Zhang Qianwen, Ding Yu, Feng Biyun, Tang Yijun, Chen Yao, Wang Yirou, Chang Guoying, Liu Shijian, Wang Jian, Li Qian, Fu Lijun, Wang Xium |
Ocular findings and genetic test in Alström syndrome in childhood. Experimental eye research 2022 10 225 109277. Wang You, Huang Li, Sun Limei, Li Songshan, Zhang Zhaotian, Zhang Ting, Lai Yanting, Ding Xiaoy |
[Clinical characteristics and genetic analysis of a Chinese pedigree affected with Alström syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 8 40 (9): 1124-1127. Zhouxian Bai, Gaopan Li, Qinghua Wu, Xiangdong Ko |
Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis. Journal of medical genetics 2023 6 . Brais Bea-Mascato, Diana Valver |
Identification of Novel Genetic Risk Factors for Focal Segmental Glomerulosclerosis in Children: Results From the Chronic Kidney Disease in Children (CKiD) Cohort.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2023 1 . Durand Axelle, Winkler Cheryl A, Vince Nicolas, Douillard Venceslas, Geffard Estelle, Binns-Roemer Elizabeth, Ng Derek K, Gourraud Pierre-Antoine, Reidy Kimberley, Warady Bradley, Furth Susan, Kopp Jeffrey B, Kaskel Frederick J, Limou Soph |
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