HuGE Literature Finder
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| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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