Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Syndrome and 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Prevalence of Hypertrophic Cardiomyopathy and ALMS1 Variant in Sphynx Cats in New Zealand. Animals : an open access journal from MDPI 2024 9 14 (18): . Joonbum Seo, Yvonne Loh, David J Connolly, Virginia Luis Fuentes, Emily Dutton, Hayley Hunt, John S Mund |
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