scholarly journals Comprehensive analysis of genetic variations in strictly-defined Leber congenital amaurosis with whole-exome sequencing in Chinese

2016 ◽  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Variations ◽  
Comprehensive Analysis ◽  
Leber Congenital Amaurosis ◽  
Whole Exome

scholarly journals Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes

2017 ◽  
Vol 58 (4) ◽  
pp. 2413 ◽  
Author(s):  
Worapoj Jinda ◽  
Todd D. Taylor ◽  
Yutaka Suzuki ◽  
Wanna Thongnoppakhun ◽  
Chanin Limwongse ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Leber Congenital Amaurosis ◽  
Whole Exome

scholarly journals Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing

Genomics Data ◽  
2015 ◽  
Vol 4 ◽  
pp. 65-68 ◽  
Author(s):  
Jinxin Li ◽  
Qinghai Huang ◽  
Liang Ge ◽  
Jing Xu ◽  
Xingjuan Shi ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Variations ◽  
Chinese Family ◽  
Paramyotonia Congenita ◽  
Whole Exome

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

2011 ◽  
Vol 32 (12) ◽  
pp. 1450-1459 ◽  
Author(s):  
Xia Wang ◽  
Hui Wang ◽  
Ming Cao ◽  
Zhe Li ◽  
Xianfeng Chen ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Leber Congenital Amaurosis ◽  
Whole Exome

scholarly journals Comprehensive Analysis of CDC27 Related to Peritoneal Metastasis by Whole Exome Sequencing in Gastric Cancer

2020 ◽  
Vol Volume 13 ◽  
pp. 3335-3346 ◽  
Author(s):  
Riping Wu ◽  
Qiaolian Li ◽  
Fan Wu ◽  
Chunmei Shi ◽  
Qiang Chen
Keyword(s):  
Gastric Cancer ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Peritoneal Metastasis ◽  
Comprehensive Analysis ◽  
Whole Exome

Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis

2018 ◽  
Vol 137 (9) ◽  
pp. 705-716 ◽  
Author(s):  
Amit Kishore ◽  
Britt-Sabina Petersen ◽  
Marcel Nutsua ◽  
Joachim Müller-Quernheim ◽  
Andre Franke ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Pulmonary Sarcoidosis ◽  
Genetic Variations ◽  
Whole Exome

scholarly journals Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Natarajan N. Srikrupa ◽  
Sarangapani Sripriya ◽  
Suriyanarayanan Pavithra ◽  
Parveen Sen ◽  
Ravi Gupta ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Gene Mutations ◽  
Degenerative Disease ◽  
Gene Panel ◽  
Diagnostic Efficiency ◽  
Leber Congenital Amaurosis ◽  
Whole Exome

AbstractLeber congenital amaurosis (LCA) is a severe autosomal recessive retinal degenerative disease. The current study describes exome sequencing results for two unrelated Indian LCA patients carrying novel nonsense p.(Glu636*) and frameshift p.(Pro2281Leufs*63) mutations in the ALMS1 gene. Although ALMS1 gene mutations are associated with Alstrom syndrome (AS), the current patients did not exhibit typical syndromic features of AS. These data suggest that ALMS1 should be included in the candidate gene panel for LCA to improve diagnostic efficiency.

scholarly journals Whole exome sequencing identified genetic variations in Chinese hemangioblastoma patients

2017 ◽  
Vol 173 (10) ◽  
pp. 2605-2613 ◽  
Author(s):  
Dexuan Ma ◽  
Jingyun Yang ◽  
Ying Wang ◽  
Xiang Huang ◽  
Guhong Du ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Variations ◽  
Whole Exome
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