PMC Links for Nucleotide (Select 125662814) - PMC

Select item 58863071.

Heterozygous loss of TSC2 alters p53 signaling and human stem cell reprogramming

Laura C Armstrong, Grant Westlake, John P Snow, Bryan Cawthon, Eric Armour, Aaron B Bowman, Kevin C Ess

Hum Mol Genet. 2017 Dec 1; 26(23): 4629–4641. Published online 2017 Sep 5. doi: 10.1093/hmg/ddx345

PMCID:: PMC5886307

Select item 57119012.

Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece

Socratis Avgeris, Florentia Fostira, Andromachi Vagena, Yiannis Ninios, Angeliki Delimitsou, Radek Vodicka, Radek Vrtel, Sotirios Youroukos, Dimitrios J. Stravopodis, Metaxia Vlassi, Aristotelis Astrinidis, Drakoulis Yannoukakos, Gerassimos E. Voutsinas

Sci Rep. 2017; 7: 16697. Published online 2017 Dec 1. doi: 10.1038/s41598-017-16988-w

PMCID:: PMC5711901

Abstract Article PDF–1.4M

Select item 56846293.

A Tuberous Sclerosis Family with TSC1 (c.1030-1G>A) Mutation Found through a Female Presenting as Multiple Ground Glass Nodules in Chest Computed Tomography Incidentally

Ting-Ting Zhao, Yong-Sheng Wang, Yan Li, Miao Ma, Ai-Mei Li, Hou-Rong Cai, Xiang-Shan Fan, Fan-Qing Meng, Li-Yun Miao

Chin Med J (Engl) 2017 Oct 20; 130(20): 2510–2512. doi: 10.4103/0366-6999.216418

PMCID:: PMC5684629

Article PDF–743K

Select item 51179344.

Genotype and brain pathology phenotype in children with tuberous sclerosis complex

Iris E Overwater, Rob Swenker, Emma L van der Ende, Kimberley BM Hanemaayer, Marianne Hoogeveen-Westerveld, Agnies M van Eeghen, Maarten H Lequin, Ans MW van den Ouweland, Henriëtte A Moll, Mark Nellist, Marie-Claire Y de Wit

Eur J Hum Genet. 2016 Dec; 24(12): 1688–1695. Published online 2016 Jul 13. doi: 10.1038/ejhg.2016.85

PMCID:: PMC5117934

Abstract Article PDF–1.5M

Select item 48439545.

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis

Rosemary Ekong, Mark Nellist, Marianne Hoogeveen‐Westerveld, Marjolein Wentink, Jessica Panzer, Steven Sparagana, Warren Emmett, Natalie L. Dawson, Marie Claire Malinge, Rima Nabbout, Caterina Carbonara, Marco Barberis, Sergio Padovan, Marta Futema, Vincent Plagnol, Steve E. Humphries, Nicola Migone, Sue Povey

Hum Mutat. 2016 Apr; 37(4): 364–370. Published online 2016 Jan 12. doi: 10.1002/humu.22951

PMCID:: PMC4843954

Abstract Article PDF–420K

Select item 46310936.

Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated

Cristina Cabrera-López, Gemma Bullich, Teresa Martí, Violeta Català, Jose Ballarín, John J. Bissler, Peter C. Harris, Elisabet Ars, Roser Torra

BMC Med Genet. 2015; 16: 39. Published online 2015 Jun 17. doi: 10.1186/s12881-015-0185-y

PMCID:: PMC4631093

Abstract Article PDF–1.2M

Select item 33972577.

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

Jennifer J. Johnston, Wendy S. Rubinstein, Flavia M. Facio, David Ng, Larry N. Singh, Jamie K. Teer, James C. Mullikin, Leslie G. Biesecker

Am J Hum Genet. 2012 Jul 13; 91(1): 97–108. doi: 10.1016/j.ajhg.2012.05.021

PMCID:: PMC3397257

Abstract Article PDF–506K

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