Results 141 to 150 of about 3,214 (198)

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient [PDF]

, 2013
May Sanyoura, Cédric Woudstra, G Halaby, Patrick Baz, Valérie Senée, Pierre-Jean Guillausseau, Pierre Zalloua, Cécile Julier   +7 more
openalex   +1 more source

Single-Cell Sequencing Reveals CD133&#43;CD44^- Originating Evolution and Stemness-Variants in <i>AHNAK2, PLIN4, HLA-B, ALK, CCDC92</i> and <i>ALMS1</i> of Human Colorectal Cancer Stem Cells

, 2018
Xiaoyan Zhang, Ling Yang, Wanjun Lei, Qiang Hou, Mingxin Huang, Hongfang Zhang, Ruifei Xie, Rongjing Zhou, Hongjin Wu, Xiaoli Zheng, Ying Li, Jing Yue, Zhenzhen Jiang, Shixiu Wu   +13 more
openalex   +1 more source

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations inALMS1andDYSF

, 2015
Csilla H. Lazar, Adva Kimchi, Prasanthi Namburi, Mousumi Mutsuddi, Lina Zelinger, Avigail Beryozkin, Shiran Ben-Simhon, Alexey Obolensky, Ziva Ben‐Neriah, Zohar Argov, Eli Pikarsky, Yakov Fellig, Devorah Marks-Ohana, Rinki Ratnapriya, Eyal Banin, Dror Sharon, Anand Swaroop   +16 more
openalex   +2 more sources

Alström syndrome with a novel mutation of ALMS1 and Graves’ hyperthyroidism: A case report and review of the literature

, 2021
Juanjuan Zhang, Junqi Wang, Manqing Sun, De Feng Xu, Yuan Xiao, Wenli Lü, Zhiya Dong   +6 more
openalex   +1 more source

Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis. [PDF]

J Med Genet, 2023
Bea-Mascato B, Valverde D.
europepmc   +1 more source

Identification of a Novel Mutation in ALMS1 in a Chinese Patient with Monogenic Diabetic Syndrome by Whole-Exome Sequencing

, 2022
Zhong Ming, Lingning Huang, Song-Jing Zhang, Sun-Jie Yan   +3 more
openalex   +1 more source

Musculoskeletal deformities of Alström syndrome-a review of 55 cases. [PDF]

Orphanet J Rare Dis
Wanninayake S, Paisey R, Dabasia H, Cole A, Dawson C, Hiwot T.   +5 more
europepmc   +1 more source

Subcellular Localization of ALMS1 Supports Involvement of Centrosome and Basal Body Dysfunction in the Pathogenesis of Obesity, Insulin Resistance, and Type 2 Diabetes [PDF]

, 2005
Tom Hearn, C. Mirella Spalluto, V Phillips, Glenn L. Renforth, Nane Copin, Neil A. Hanley, David I. Wilson   +6 more
openalex   +1 more source

Partial response to lorlatinib in thoracic inflammatory myofibroblastic tumor harboring complex and rare ALK fusions: a case report. [PDF]

Transl Lung Cancer Res
Tang LB, Peng YL, Yang XR, Li JT, Lu C, Zheng MM, Sun L, Yang Z, Yan LX, Deng Y, Chen ZH, Lv SD, Zhou Q, Xu CR.   +13 more
europepmc   +1 more source

Whole-exome sequencing identifiesALMS1, IQCB1, CNGA3, andMYO7Amutations in patients with leber congenital amaurosis

, 2011
Xia Wang, Hui Wang, Ming Cao, Zhe Li, Xianfeng Chen, Claire Patenia, Athurva Gore, Emad B. Abboud, Ali A. Al‐Rajhi, Richard A. Lewis, James R. Lupski, Graeme Mardon, Kun Zhang, Donna M. Muzny, Richard A. Gibbs, Rui Chen   +15 more
openalex   +2 more sources