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Select item 70271951.

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

Abstract Article PDF–1.2M

Select item 69286272.

Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining

Justyna Totoń-Żurańska, Przemysław Kapusta, Magda Rybak-Krzyszkowska, Katarzyna Lorenc, Julita Machlowska, Anna Skalniak, Erita Filipek, Dorota Pawlik, Paweł P. Wołkow

Int J Mol Sci. 2019 Dec; 20(23): 6006. Published online 2019 Nov 28. doi: 10.3390/ijms20236006

PMCID:: PMC6928627

Abstract Article PDF–1.9M

Select item 68627333.

Genetic variants of VEGFR-1 gene promoter in acute myocardial infarction

Haihua Wang, Shufang Zhang, Na Wang, Jie Zhang, Mingkai Chen, Xiaohui He, Yinghua Cui, Shuchao Pang, Bo Yan

Hum Genomics. 2019; 13: 56. Published online 2019 Nov 19. doi: 10.1186/s40246-019-0243-1

PMCID:: PMC6862733

Abstract Article PDF–1.8M

Select item 68264184.

A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair

Maria Valeria Esposito, Giuseppina Minopoli, Luciana Esposito, Valeria D’Argenio, Federica Di Maggio, Emanuele Sasso, Massimiliano D’Aiuto, Nicola Zambrano, Francesco Salvatore

Cancers (Basel) 2019 Oct; 11(10): 1454. Published online 2019 Sep 28. doi: 10.3390/cancers11101454

PMCID:: PMC6826418

Abstract Article PDF–7.8M

Select item 68257785.

The Nudix Hydrolase 15 (NUDT15) Gene Variants among Jordanian Arab Population

Yazun Bashir Jarrar, Maria Ghishan

Asian Pac J Cancer Prev. 2019; 20(3): 801–808. doi: 10.31557/APJCP.2019.20.3.801

PMCID:: PMC6825778

Abstract Article PDF–467K

Select item 68194366.

Bioinformatic Identification of miR-622 Key Target Genes and Experimental Validation of the miR-622-RNF8 Axis in Breast Cancer

Chuanyang Liu, Lu Min, Jingyu Kuang, Chushu Zhu, Xin-Yuan Qiu, Lingyun Zhu

Front Oncol. 2019; 9: 1114. Published online 2019 Oct 23. doi: 10.3389/fonc.2019.01114

PMCID:: PMC6819436

Abstract Article PDF–2.6M

Select item 67473367.

Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome

Vo Van Giau, Eva Bagyinszky, Young Chul Youn, Seong Soo A. An, Sang Yun Kim

Int J Mol Sci. 2019 Sep; 20(17): 4298. Published online 2019 Sep 3. doi: 10.3390/ijms20174298

PMCID:: PMC6747336

Abstract Article PDF–1.6M

Select item 66607008.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz

Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2

PMCID:: PMC6660700

Abstract Article PDF–980K

Select item 66432069.

E-Poster Viewing

Eur Stroke J. 2019 May; 4(1 Suppl): 150–276. Published online 2019 May 22. doi: 10.1177/2396987319845581

PMCID:: PMC6643206

Article PDF–15M

Select item 662739610.

Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders

Carmela Fusco, Silvia Morlino, Lucia Micale, Alessandro Ferraris, Paola Grammatico, Marco Castori

Genes (Basel) 2019 Jun; 10(6): 442. Published online 2019 Jun 10. doi: 10.3390/genes10060442

PMCID:: PMC6627396

Abstract Article PDF–1.7M

Select item 654412511.

Identify CRNDE and LINC00152 as the key lncRNAs in age-related degeneration of articular cartilage through comprehensive and integrative analysis

Pengfei Hu, Fangfang Sun, Jisheng Ran, Lidong Wu

PeerJ. 2019; 7: e7024. Published online 2019 May 28. doi: 10.7717/peerj.7024

PMCID:: PMC6544125

Abstract Article PDF–2.0M

Select item 641254212.

MicroRNA-92a promotes cell proliferation, migration and survival by directly targeting the tumor suppressor gene NF2 in colorectal and lung cancer cells

Krizelle Mae M. Alcantara, Reynaldo L. Garcia

Oncol Rep. 2019 Apr; 41(4): 2103–2116. Published online 2019 Feb 19. doi: 10.3892/or.2019.7020

PMCID:: PMC6412542

Abstract Article PDF–2.4M

Select item 632764113.

Identification of differentially expressed non-coding RNAs and mRNAs involved in Qi stagnation and blood stasis syndrome

Guang Chen, Jialiang Gao, Haoqiang He, Chao Liu, Yongmei Liu, Jun Li, Jie Wang

Exp Ther Med. 2019 Feb; 17(2): 1206–1223. Published online 2018 Dec 7. doi: 10.3892/etm.2018.7068

PMCID:: PMC6327641

Abstract Article PDF–3.7M

Select item 628223914.

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

Sara Zagaglia, Christina Selch, Jelena Radic Nisevic, Davide Mei, Zuzanna Michalak, Laura Hernandez-Hernandez, S. Krithika, Katharina Vezyroglou, Sophia M. Varadkar, Alexander Pepler, Saskia Biskup, Miguel Leão, Jutta Gärtner, Andreas Merkenschlager, Michaela Jaksch, Rikke S. Møller, Elena Gardella, Britta Schlott Kristiansen, Lars Kjærsgaard Hansen, Maria Stella Vari, Katherine L. Helbig, Sonal Desai, Constance L. Smith-Hicks, Naomi Hino-Fukuyo, Tiina Talvik, Rael Laugesaar, Pilvi Ilves, Katrin Õunap, Ingrid Körber, Till Hartlieb, Manfred Kudernatsch, Peter Winkler, Mareike Schimmel, Anette Hasse, Markus Knuf, Jan Heinemeyer, Christine Makowski, Sondhya Ghedia, Gopinath M. Subramanian, Pasquale Striano, Rhys H. Thomas, Caroline Micallef, Maria Thom, David J. Werring, Gerhard Josef Kluger, J. Helen Cross, Renzo Guerrini, Simona Balestrini, Sanjay M. Sisodiya

Neurology. 2018 Nov 27; 91(22): e2078–e2088. doi: 10.1212/WNL.0000000000006567

Correction in:: Neurology. 2020 Feb 18; 94(7): 332.

PMCID:: PMC6282239

Abstract Article PDF–1.1M

Select item 624421315.

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

Melodie Aubart, Steven Gazal, Pauline Arnaud, Louise Benarroch, Marie-Sylvie Gross, Julien Buratti, Anne Boland, Vincent Meyer, Habib Zouali, Nadine Hanna, Olivier Milleron, Chantal Stheneur, Thomas Bourgeron, Isabelle Desguerre, Marie-Paule Jacob, Laurent Gouya, Emmanuelle Génin, Jean-François Deleuze, Guillaume Jondeau, Catherine Boileau

Eur J Hum Genet. 2018 Dec; 26(12): 1759–1772. Published online 2018 Aug 7. doi: 10.1038/s41431-018-0164-9

PMCID:: PMC6244213

Abstract Article PDF–2.4M

Select item 623064416.

Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss

Satoko Abe, Shin‐ya Nishio, Yoh Yokota, Hideaki Moteki, Kozo Kumakawa, Shin‐ichi Usami

Clin Case Rep. 2018 Nov; 6(11): 2111–2116. Published online 2018 Sep 21. doi: 10.1002/ccr3.1800

PMCID:: PMC6230644

Abstract Article PDF–443K

Select item 617617717.

Altered expression pattern of circular RNAs in metastatic oral mucosal melanoma

Houyu Ju, Liming Zhang, Lu Mao, Shuli Liu, Weiya Xia, Jingzhou Hu, Min Ruan, Guoxin Ren

Am J Cancer Res. 2018; 8(9): 1788–1800. Published online 2018 Sep 1.

PMCID:: PMC6176177

Abstract Article PDF–2.0M

Select item 616295118.

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

Elizabeth A. Normand, Alicia Braxton, Salma Nassef, Patricia A. Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren E. Westerfield, Samantha Stover, Avinash V. Dharmadhikari, Donna M. Muzny, Richard A. Gibbs, Hongzheng Dai, Linyan Meng, Xia Wang, Rui Xiao, Pengfei Liu, Weimin Bi, Fan Xia, Magdalena Walkiewicz, Ignatia B. Van den Veyver, Christine M. Eng, Yaping Yang

Genome Med. 2018; 10: 74. Published online 2018 Sep 28. doi: 10.1186/s13073-018-0582-x

PMCID:: PMC6162951

Abstract Article PDF–844K

Select item 615882219.

CDX2 in colorectal cancer is an independent prognostic factor and regulated by promoter methylation and histone deacetylation in tumors of the serrated pathway

Janina Graule, Kristin Uth, Elia Fischer, Irene Centeno, José A. Galván, Micha Eichmann, Tilman T. Rau, Rupert Langer, Heather Dawson, Ulrich Nitsche, Peter Traeger, Martin D. Berger, Beat Schnüriger, Marion Hädrich, Peter Studer, Daniel Inderbitzin, Alessandro Lugli, Mario P. Tschan, Inti Zlobec

Clin Epigenetics. 2018; 10: 120. Published online 2018 Sep 26. doi: 10.1186/s13148-018-0548-2

PMCID:: PMC6158822

Abstract Article PDF–2.2M

Select item 597402020.

Genetic predictors of systemic sclerosis-associated interstitial lung disease: a review of recent literature

Carmel J. W. Stock, Elisabetta A. Renzoni

Eur J Hum Genet. 2018 Jun; 26(6): 765–777. Published online 2018 Feb 23. doi: 10.1038/s41431-018-0104-8

PMCID:: PMC5974020

Abstract Article PDF–531K

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