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Items: 1 to 20 of 207

1.
The Absence of Calponin 2 in Rabbits Suggests Caution in Choosing Animal Models
Olesya Plazyo, Weilong Hao, Jian-Ping Jin
Front Bioeng Biotechnol. 2020; 8: 42. Published online 2020 Feb 28. doi: 10.3389/fbioe.2020.00042
PMCID:
PMC7058930
ArticlePDF–2.4M
2.
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
Kathleen A. Williamson, H. Nikki Hall, Liusaidh J. Owen, Benjamin J. Livesey, Isabel M. Hanson, G. G. W. Adams, Simon Bodek, Patrick Calvas, Bruce Castle, Michael Clarke, Alexander T. Deng, Patrick Edery, Richard Fisher, Gabriele Gillessen-Kaesbach, Elise Heon, Jane Hurst, Dragana Josifova, Birgit Lorenz, Shane McKee, Francoise Meire, Anthony T. Moore, Michael Parker, Charlotte M. Reiff, Jay Self, Edward S. Tobias, Joke B. G. M. Verheij, Marjolaine Willems, Denise Williams, Veronica van Heyningen, Joseph A. Marsh, David R. FitzPatrick
Genet Med. 2020; 22(3): 598–609. Published online 2019 Nov 8. doi: 10.1038/s41436-019-0685-9
PMCID:
PMC7056646
ArticlePDF–1.1M
3.
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
ArticlePDF–1.2M
4.
Genetic Basis and Genotype–Phenotype Correlations in Han Chinese Patients with Idiopathic Dilated Cardiomyopathy
Xin-Lin Zhang, Jun Xie, Rong-Fang Lan, Li-Na Kang, Lian Wang, Wei Xu, Biao Xu
Sci Rep. 2020; 10: 2226. Published online 2020 Feb 10. doi: 10.1038/s41598-020-58984-7
PMCID:
PMC7010767
ArticlePDF–1.5M
5.
Quality of whole genome sequencing from blood versus saliva derived DNA in cardiac patients
Roderick A. Yao, Oyediran Akinrinade, Marie Chaix, Seema Mital
BMC Med Genomics. 2020; 13: 11. Published online 2020 Jan 29. doi: 10.1186/s12920-020-0664-7
PMCID:
PMC6988365
ArticlePDF–1.4M
6.
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder
Lauren Cascio, Chin‐Fu Chen, Rini Pauly, Sujata Srikanth, Kelly Jones, Cindy D. Skinner, Roger E. Stevenson, Charles E. Schwartz, Luigi Boccuto
Mol Genet Genomic Med. 2020 Jan; 8(1): e1036. Published online 2019 Nov 7. doi: 10.1002/mgg3.1036
PMCID:
PMC6978257
ArticlePDF–826K
7.
ALU transposition induces familial hypertrophic cardiomyopathy
Landry Nfonsam, Lijia Huang, Nancy Carson, Jean McGowan‐Jordan, Melanie Beaulieu Bergeron, Sharan Goobie, Susan Conacher, David McCarty, Lee Benson, Stacy Hewson, Laura Zahavich, Elizabeth Sinclair‐Bourque, Amanda Smith, Ryan Potter, Mahdi Ghani, Lucas Bronicki, Olga Jarinova
Mol Genet Genomic Med. 2020 Jan; 8(1): e951. Published online 2019 Sep 30. doi: 10.1002/mgg3.951
PMCID:
PMC6978237
ArticlePDF–755K
8.
Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population
Farjana Akther Noor, Nusrat Sultana, Golam Sarower Bhuyan, Md Tarikul Islam, Mohabbat Hossain, Suprovath Kumar Sarker, Khaleda Islam, Waqar Ahmed Khan, Mujahida Rahman, Syeda Kashfi Qadri, Hossain Uddin Shekhar, Firdausi Qadri, Syed Saleheen Qadri, Kaiissar Mannoor
Orphanet J Rare Dis. 2020; 15: 15. Published online 2020 Jan 15. doi: 10.1186/s13023-020-1294-z
PMCID:
PMC6961315
ArticlePDF–1.0M
9.
Epigenetic Modification as a Regulatory Mechanism for Spatiotemporal Dynamics of ANO1 Expression in Salivary Glands
Yonghwan Shin, Sang-Woo Lee, Eun Namkoong, Woojin An, Jong-Ho Lee, Peter D Brown, Kyungpyo Park
Int J Mol Sci. 2019 Dec; 20(24): 6298. Published online 2019 Dec 13. doi: 10.3390/ijms20246298
PMCID:
PMC6940850
ArticlePDF–3.0M
10.
Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia
ZaenalAdi Susanto, Wahyu Siswandari, Lantip Rujito
Mol Genet Metab Rep. 2020 Mar; 22: 100550. Published online 2019 Dec 20. doi: 10.1016/j.ymgmr.2019.100550
PMCID:
PMC6933185
ArticlePDF–544K
11.
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
ArticlePDF–604K
12.
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data
Ivo F. A. C. Fokkema, Kasper J. van der Velde, Mariska K. Slofstra, Claudia A. L. Ruivenkamp, Maartje J. Vogel, Rolph Pfundt, Marinus J. Blok, Ronald H. Lekanne Deprez, Quinten Waisfisz, Kristin M. Abbott, Richard J. Sinke, Rubayte Rahman, Isaäc J. Nijman, Bart de Koning, Gert Thijs, Nienke Wieskamp, Ruben J. G. Moritz, Bart Charbon, Jasper J. Saris, Johan T. den Dunnen, Jeroen F. J. Laros, Morris A. Swertz, Marielle E. van Gijn
Hum Mutat. 2019 Dec; 40(12): 2230–2238. Published online 2019 Sep 3. doi: 10.1002/humu.23896
PMCID:
PMC6900155
ArticlePDF–875K
13.
Validation of an epigenetic field of susceptibility to detect significant prostate cancer from non-tumor biopsies
Bing Yang, Tyler Etheridge, Johnathon McCormick, Adam Schultz, Tariq A. Khemees, Nathan Damaschke, Glen Leverson, Kaitlin Woo, Geoffrey A. Sonn, Eric A. Klein, Mike Fumo, Wei Huang, David F. Jarrard
Clin Epigenetics. 2019; 11: 168. Published online 2019 Nov 28. doi: 10.1186/s13148-019-0771-5
PMCID:
PMC6883627
ArticlePDF–807K
14.
Effect of MALAT1 Polymorphisms on Papillary Thyroid Cancer in a Chinese Population
Jing Wen, Liang Chen, Hua Tian, Ji Li, Miao Zhang, Qing Cao, Wei Zhang, Shi Chen, Lixin Shi
J Cancer. 2019; 10(23): 5714–5721. Published online 2019 Sep 19. doi: 10.7150/jca.28887
PMCID:
PMC6879318
ArticlePDF–921K
15.
Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype
EYAL REINSTEIN, SHAY TZUR, CONCETTA BORMANS, DORON M. BEHAR
Genet Res (Camb) 2016; 98: e8. Published online 2016 May 13. doi: 10.1017/S0016672316000045
PMCID:
PMC6865166
ArticlePDF–146K
16.
Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy
Jih-Kai Yeh, Wei-Hsiu Liu, Chao-Yung Wang, Jang-Jih Lu, Chien-Hsiun Chen, Yah-Huei Wu-Chou, Pi-Yueh Chang, Shih-Cheng Chang, Chia-Hung Yang, Ming-Lung Tsai, Ming-Yun Ho, I-Chang Hsieh, Ming-Shien Wen
Acta Cardiol Sin. 2019 Nov; 35(6): 571–584. doi: 10.6515/ACS.201911_35(6).20190402A
PMCID:
PMC6859096
ArticlePDF–1.5M
17.
Hb I: A α‐globin chain variant causing unexpected HbA1c results
Anping Xu, Jian Sun, Jie Li, Weidong Chen, Ruoyang Zheng, Zhonghou Han, Ling Ji
J Clin Lab Anal. 2019 Feb; 33(2): e22671. Published online 2018 Sep 17. doi: 10.1002/jcla.22671
PMCID:
PMC6818576
ArticlePDF–474K
18.
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
ArticlePDF–277K
19.
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center
Francesco Mazzarotto, Francesca Girolami, Beatrice Boschi, Fausto Barlocco, Alessia Tomberli, Katia Baldini, Raffaele Coppini, Ilaria Tanini, Sara Bardi, Elisa Contini, Franco Cecchi, Elisabetta Pelo, Stuart A. Cook, Elisabetta Cerbai, Corrado Poggesi, Francesca Torricelli, Roddy Walsh, Iacopo Olivotto
Genet Med. 2019; 21(2): 284–292. Published online 2018 Jun 6. doi: 10.1038/s41436-018-0046-0
PMCID:
PMC6752309
ArticlePDF–1.2M
20.
Direct-to-consumer raw genetic data and third-party interpretation services: more burden than bargain?
Tia Moscarello, Brittney Murray, Chloe M. Reuter, Erin Demo
Genet Med. 2019; 21(3): 539–541. Published online 2018 Jul 12. doi: 10.1038/s41436-018-0097-2
PMCID:
PMC6752274
ArticlePDF–210K

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