PMC Links for Books (Select 5035780) - PMC

Select item 72204301.

The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant

Qiang Zhang, Shaoke Chen, Zailong Qin, Haiyang Zheng, Xin Fan

Medicine (Baltimore) 2020 Apr; 99(15): e19751. Published online 2020 Apr 10. doi: 10.1097/MD.0000000000019751

PMCID:: PMC7220430

Abstract Article PDF–708K

Select item 67776172.

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

Ange-Line Bruel, Sophie Nambot, Virginie Quéré, Antonio Vitobello, Julien Thevenon, Mirna Assoum, Sébastien Moutton, Nada Houcinat, Daphné Lehalle, Nolwenn Jean-Marçais, Orphanomix Physician’s Group, Martin Chevarin, Thibaud Jouan, Charlotte Poë, Patrick Callier, Emilie Tisserand, Christophe Philippe, Frédéric Tran Mau Them, Yannis Duffourd, Laurence Faivre, Christel Thauvin-Robinet

Eur J Hum Genet. 2019 Oct; 27(10): 1519–1531. Published online 2019 Jun 23. doi: 10.1038/s41431-019-0442-1

PMCID:: PMC6777617

Abstract Article PDF–1012K

Select item 65425603.

The THO complex coordinates transcripts for synapse development and dopamine neuron survival

Celine I. Maeder, Jae-Ick Kim, Xing Liang, Konstantin Kaganovsky, Ao Shen, Qin Li, Zhaoyu Li, Sui Wang, X.Z. Shawn Xu, Jin Billy Li, Yang Kevin Xiang, Jun B. Ding, Kang Shen

Cell. Author manuscript; available in PMC 2019 May 30.

Published in final edited form as: Cell. 2018 Sep 6; 174(6): 1436–1449.e20. Published online 2018 Aug 23. doi: 10.1016/j.cell.2018.07.046

PMCID:: PMC6542560

Abstract Article PDF–1.4M

Select item 63056384.

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases

Pratibha Nair, Sandra Sabbagh, Hicham Mansour, Ali Fawaz, Ghassan Hmaimess, Peter Noun, Rawane Dagher, Hala Megarbane, Sayeeda Hana, Saada Alame, Maher Lamaa, Dana Hasbini, Roula Farah, Mariam Rajab, Samantha Stora, Oulfat El‐Tourjuman, Pauline Abou Jaoude, Gihad Chalouhi, Rony Sayad, Anne‐Celine Gillart, Mahmoud Al‐Ali, Valerie Delague, Stephany El‐Hayek, André Mégarbané

Mol Genet Genomic Med. 2018 Nov; 6(6): 1041–1052. Published online 2018 Oct 7. doi: 10.1002/mgg3.480

PMCID:: PMC6305638

Abstract Article PDF–1.0M

Select item 45447535.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 39627956.

The THO Complex Regulates Pluripotency Gene mRNA Export and Controls Embryonic Stem Cell Self-renewal and Somatic Cell Reprogramming

Li Wang, Yi-liang Miao, Xiaofeng Zheng, Brad Lackford, Bingying Zhou, Leng Han, Chengguo Yao, James Ward, Adam Burkholder, Inna Lipchina, David C. Fargo, Konrad Hochedlinger, Yongsheng Shi, Carmen J. Williams, Guang Hu

Cell Stem Cell. Author manuscript; available in PMC 2014 Dec 5.

Published in final edited form as: Cell Stem Cell. 2013 Dec 5; 13(6): 676–690. doi: 10.1016/j.stem.2013.10.008

PMCID:: PMC3962795

Abstract Article PDF–3.2M

Select item 36444997.

Intellectual disability associated with a homozygous missense mutation in THOC6

Chandree L Beaulieu, Lijia Huang, A Micheil Innes, Marie-Andree Akimenko, Erik G Puffenberger, Charles Schwartz, Paul Jerry, Carole Ober, Robert A Hegele, D Ross McLeod, Jeremy Schwartzentruber, Jacek Majewski, Dennis E Bulman, Jillian S Parboosingh, Kym M Boycott

Orphanet J Rare Dis. 2013; 8: 62. Published online 2013 Apr 26. doi: 10.1186/1750-1172-8-62

PMCID:: PMC3644499

Abstract Article PDF–811K

Select item 30960378.

Identification of mRNAs that are spliced but not exported to the cytoplasm in the absence of THOC5 in mouse embryo fibroblasts

Anuja Guria, Doan Duy Hai Tran, Sheetal Ramachandran, Alexandra Koch, Omar El Bounkari, Priyanka Dutta, Hansjörg Hauser, Teruko Tamura

RNA. 2011 Jun; 17(6): 1048–1056. doi: 10.1261/rna.2607011

PMCID:: PMC3096037

Abstract Article PDF–480K

Select item 11720589.

Recruitment of the human TREX complex to mRNA during splicing

Seiji Masuda, Rita Das, Hong Cheng, Ed Hurt, Nijsje Dorman, Robin Reed

Genes Dev. 2005 Jul 1; 19(13): 1512–1517. doi: 10.1101/gad.1302205

PMCID:: PMC1172058

Abstract Article PDF–356K

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