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Select item 70580011.

Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis

Ewelina Bukowska-Olech, Delfina Popiel, Grzegorz Koczyk, Anna Sowińska-Seidler, Magdalena Socha, Bartosz Wojciechowicz, Adam Dawidziuk, Dawid Larysz, Aleksander Jamsheer

Sci Rep. 2020; 10: 4159. Published online 2020 Mar 5. doi: 10.1038/s41598-020-61048-5

PMCID:: PMC7058001

Article PDF–1.5M

Select item 70571102.

Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing

Shumin Ren, Xiaojie Chen, Xiangdong Kong, Yibing Chen, Qinghua Wu, Zhihui Jiao, Huirong Shi

Mol Genet Genomic Med. 2020 Mar; 8(3): e1128. Published online 2020 Jan 20. doi: 10.1002/mgg3.1128

PMCID:: PMC7057110

Article PDF–1.0M

Select item 70394333.

Differential sequences and single nucleotide polymorphism of exosomal SOX2 DNA in cancer

Manjusha Vaidya, Kiminobu Sugaya

PLoS One. 2020; 15(2): e0229309. Published online 2020 Feb 24. doi: 10.1371/journal.pone.0229309

PMCID:: PMC7039433

Article PDF–3.9M

Select item 70271954.

Systematic Nucleotide Exchange Analysis of ESTs From the Human Cancer Genome Project Report: Origins of 347 Unknown ESTs Indicate Putative Transcription of Non-Coding Genomic Regions

Ganesh Warthi, Pierre-Edouard Fournier, Hervé Seligmann

Front Genet. 2020; 11: 42. Published online 2020 Feb 11. doi: 10.3389/fgene.2020.00042

PMCID:: PMC7027195

Article PDF–1.2M

Select item 70246875.

Computational determination of human PPARG gene: SNPs and prediction of their effect on protein functions of diabetic patients

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

Article PDF–3.2M

Select item 70107006.

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

Article PDF–1.1M

Select item 69412917.

Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF

Athar Khalil, Samer Bou Karroum, Rana Barake, Gabriel Dunya, Samer Abou-Rizk, Amina Kamar, Georges Nemer, Marc Bassim

BMC Med Genet. 2020; 21: 1. Published online 2020 Jan 2. doi: 10.1186/s12881-019-0942-4

PMCID:: PMC6941291

Article PDF–1.2M

Select item 69003938.

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

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

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

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

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

Article PDF–2.0M

Select item 670988113.

Modeling Retinitis Pigmentosa: Retinal Organoids Generated From the iPSCs of a Patient With the USH2A Mutation Show Early Developmental Abnormalities

Yonglong Guo, Peiyuan Wang, Jacey Hongjie Ma, Zekai Cui, Quan Yu, Shiwei Liu, Yunxia Xue, Deliang Zhu, Jixing Cao, Zhijie Li, Shibo Tang, Jiansu Chen

Front Cell Neurosci. 2019; 13: 361. Published online 2019 Aug 7. doi: 10.3389/fncel.2019.00361

PMCID:: PMC6709881

Article PDF–8.0M

Select item 670268714.

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

PMCID:: PMC6702687

Article PDF–1.3M

Select item 670017915.

Comprehensive analysis of syndromic hearing loss patients in Japan

Michie Ideura, Shin-ya Nishio, Hideaki Moteki, Yutaka Takumi, Maiko Miyagawa, Teruyuki Sato, Yumiko Kobayashi, Kenji Ohyama, Kiyoshi Oda, Takamichi Matsui, Tsukasa Ito, Hiroshi Suzumura, Kyoko Nagai, Shuji Izumi, Nobuhiro Nishiyama, Manabu Komori, Kozo Kumakawa, Hidehiko Takeda, Yoko Kishimoto, Satoshi Iwasaki, Sakiko Furutate, Kotaro Ishikawa, Masato Fujioka, Hiroshi Nakanishi, Jun Nakayama, Rie Horie, Yumi Ohta, Yasushi Naito, Mariko Kakudo, Hirofumi Sakaguchi, Yuko Kataoka, Kazuma Sugahara, Naohito Hato, Takashi Nakagawa, Nana Tsuchihashi, Yukihiko Kanda, Chiharu Kihara, Tetsuya Tono, Ikuyo Miyanohara, Akira Ganaha, Shin-ichi Usami

Sci Rep. 2019; 9: 11976. Published online 2019 Aug 19. doi: 10.1038/s41598-019-47141-4