Full text in PMC (nucleotide) for Gene (Select 7401) - 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 70167474.

Findings from a Genotyping Study of over 1000 People with Inherited Retinal Disorders in Ireland

Laura Whelan, Adrian Dockery, Niamh Wynne, Julia Zhu, Kirk Stephenson, Giuliana Silvestri, Jacqueline Turner, James J. O’Byrne, Matthew Carrigan, Peter Humphries, David Keegan, Paul F. Kenna, G. Jane Farrar

Genes (Basel) 2020 Jan; 11(1): 105. Published online 2020 Jan 16. doi: 10.3390/genes11010105

PMCID:: PMC7016747

Abstract Article PDF–16M

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 69782396.

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next‐generation sequencing

Juan C. Zenteno, Leopoldo A. García‐Montaño, Marisa Cruz‐Aguilar, Josué Ronquillo, Agustín Rodas‐Serrano, Luis Aguilar‐Castul, Rodrigo Matsui, Carlos I. Vencedor‐Meraz, Rocío Arce‐González, Federico Graue‐Wiechers, Mario Gutiérrez‐Paz, Tatiana Urrea‐Victoria, Ulises de Dios Cuadras, Oscar F. Chacón‐Camacho

Mol Genet Genomic Med. 2020 Jan; 8(1): 10.1002/mgg3.1044. Published online 2019 Nov 17. doi: 10.1002/mgg3.1044

PMCID:: PMC6978239

Abstract Article PDF–1.3M

Select item 69471577.

Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet–Biedl and Usher Syndromes

Lama Jaffal, Wissam H Joumaa, Alexandre Assi, Charles Helou, George Cherfan, Kazem Zibara, Isabelle Audo, Christina Zeitz, Said El Shamieh

Genes (Basel) 2019 Dec; 10(12): 1047. Published online 2019 Dec 16. doi: 10.3390/genes10121047

PMCID:: PMC6947157

Abstract Article PDF–2.9M

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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 68171799.

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 675547410.

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 672739111.

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 671201812.

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 670268713.

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