Full text in PMC (nucleotide) for Gene (Select 7428) - PMC

Howeida Abdullah Mustafa, Afraa Mohamed Suliman Albkrye, Buthiena Mohamed AbdAlla, Mona AbdelRahman Mohammed Khair, Nidal Abdelwahid, Hind Abdelaziz Elnasri

Clin Transl Med. 2020; 9: 7. Published online 2020 Feb 17. doi: 10.1186/s40169-020-0258-1

PMCID:: PMC7024687

Abstract Article PDF–3.2M

Select item 70107005.

Investigation of DNA variants specific to ROBO2 Isoform ‘a’ in Irish vesicoureteric reflux patients reveals marked CpG island variation

John M. Darlow, Mark G. Dobson, Andrew J. Green, Prem Puri, David E. Barton

Sci Rep. 2020; 10: 2265. Published online 2020 Feb 10. doi: 10.1038/s41598-020-58818-6

PMCID:: PMC7010700

Abstract Article PDF–1.1M

Select item 69987466.

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing

Sun Hee Rosenthal, Weimin Sun, Ke Zhang, Yan Liu, Quoclinh Nguyen, Anna Gerasimova, Camille Nery, Linda Cheng, Carolyn Castonguay, Elaine Hiller, James Li, Christopher Elzinga, David Wolfson, Alla Smolgovsky, Rebecca Chen, Arlene Buller-Burckle, Joseph Catanese, Andrew Grupe, Felicitas Lacbawan, Renius Owen

Biomed Res Int. 2020; 2020: 3289023. Published online 2020 Jan 22. doi: 10.1155/2020/3289023

PMCID:: PMC6998746

Abstract Article PDF–443K

Select item 69277737.

Inter-laboratory proficiency testing scheme for tumour next-generation sequencing in Ontario: a pilot study

T. Spence, N. Stickle, C. Yu, H. Chow, H. Feilotter, B. Lo, E. McCready, B. Sadikovic, L.L. Siu, P.L. Bedard, T.L. Stockley

Curr Oncol. 2019 Dec; 26(6): e717–e732. Published online 2019 Dec 1. doi: 10.3747/co.26.5379

PMCID:: PMC6927773

Abstract Article PDF–823K

Select item 69024648.

Novel gene mutation in von Hippel-Lindau disease – a report of two cases

Jitian Wang, Wenjie Cao, Zhaoxia Wang, Hong Zhu

BMC Med Genet. 2019; 20: 194. Published online 2019 Dec 10. doi: 10.1186/s12881-019-0930-8

PMCID:: PMC6902464

Abstract Article PDF–2.7M

Select item 69003939.

Gene‐level genome‐wide association analysis of suicide attempt, a preliminary study in a psychiatric Mexican population

Thelma Beatriz González‐Castro, José Jaime Martínez‐Magaña, Carlos Alfonso Tovilla‐Zárate, Isela Esther Juárez‐Rojop, Emmanuel Sarmiento, Alma Delia Genis‐Mendoza, Humberto Nicolini

Mol Genet Genomic Med. 2019 Dec; 7(12): e983. Published online 2019 Oct 2. doi: 10.1002/mgg3.983

PMCID:: PMC6900393

Abstract Article PDF–604K

Select item 681717910.

Rapid Screening for Deleted Form of β‐thalassemia by Real‐Time Quantitative PCR

Liang‐Yin Ke, Jan‐Gowth Chang, Chao‐Sung Chang, Li‐Ling Hsieh, Ta‐Chih Liu

J Clin Lab Anal. 2017 Jan; 31(1): e22019. Published online 2016 Aug 16. doi: 10.1002/jcla.22019

PMCID:: PMC6817179

Abstract Article PDF–277K

Select item 675547411.

Effect of type 2 diabetes mellitus caveolin-3 K15N mutation on glycometabolism

Yiyuan Huang, Yufeng Deng, Lina Shang, Lihui Yang, Juanjuan Huang, Jing Ma, Xianshan Liao, Hui Zhou, Jing Xian, Guining Liang, Qin Huang

Exp Ther Med. 2019 Oct; 18(4): 2531–2539. Published online 2019 Aug 2. doi: 10.3892/etm.2019.7840

Correction in:: Exp Ther Med. 2020 Feb; 19(2): 1137.

PMCID:: PMC6755474

Abstract Article PDF–2.5M

Select item 674264612.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 673231613.

Whole‐exome sequencing and immunohistochemistry findings in von Hippel–Lindau disease

Xiaopeng Guo, Lu Gao, Xiafei Hong, Dan Guo, Wenyu Di, Xiaoman Wang, Zhiqin Xu, Bing Xing

Mol Genet Genomic Med. 2019 Sep; 7(9): e880. Published online 2019 Jul 17. doi: 10.1002/mgg3.880

PMCID:: PMC6732316

Abstract Article PDF–1.7M

Select item 672739114.

A cross-sectional study on factors associated with hypertension and genetic polymorphisms of renin-angiotensin-aldosterone system in Chinese hui pilgrims to hajj

Yinxia Zhang, Fangfang Shi, Zhanbiao Yu, Aimin Yang, Maolan Zeng, Jiaoyue Wang, Haiping Yin, Benzhong Zhang, Xiao Ma

BMC Public Health. 2019; 19: 1223. Published online 2019 Sep 4. doi: 10.1186/s12889-019-7357-1

PMCID:: PMC6727391

Abstract Article PDF–1.7M

Select item 672300215.

Von Hippel-Lindau “Black Forest” mutation inherited in a large Chinese family

Peihua Liu, Feizhou Zhu, Minghao Li, Daud Athanasius Dube, Qianqian Liu, Cikui Wang, Qiao Xiao, Liang Zhang, Shuai Gao, Zhuolin Li, Bo Zhang, Jing Liu, Longfei Liu, Xiang Chen

Gland Surg. 2019 Aug; 8(4): 343–353. doi: 10.21037/gs.2019.08.03

PMCID:: PMC6723002

Abstract Article PDF–3.4M

Select item 671201816.

CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan

Chun-Wei Chang, Peng-Wei Hsu, Kuo-Chen Wei, Chia-Wen Chang, Hon-Chung Fung, Mo-Song Hsih, Wen-Chuin Hsu, Long-Sun Ro, Chen-Nen Chang, Jiun-Jie Wang, Yih-Ru Wu, Sien-Tsong Chen

Sci Rep. 2019; 9: 12387. Published online 2019 Aug 27. doi: 10.1038/s41598-019-48448-y

PMCID:: PMC6712018

Abstract Article PDF–2.0M

Select item 670268717.

Different gene expression profiles in subcutaneous & visceral adipose tissues from Mexican patients with obesity

María D. Ronquillo, Alla Mellnyk, Noemí Cárdenas-Rodríguez, Emmanuel Martínez, David A. Comoto, Liliana Carmona-Aparicio, Norma E. Herrera, Eleazar Lara, Armando Pereyra, Esaú Floriano-Sánchez

Indian J Med Res. 2019 May; 149(5): 616–626. doi: 10.4103/ijmr.IJMR_1165_17