PMC Links for Nucleotide (Select 568815317) - PMC

Select item 59487321.

Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family

Laura Alías, Jaume Crespi, Lidia González-Quereda, Jesús Téllez, Elisabeth Martínez, Sara Bernal, Ma Pia Gallano

BMC Med Genet. 2018; 19: 77. Published online 2018 May 11. doi: 10.1186/s12881-018-0590-0

PMCID:: PMC5948732

Abstract Article PDF–3.0M

Select item 50257182.

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

S.R.F. Twigg, L.B. Ousager, K.A. Miller, Y. Zhou, S.C. Elalaoui, A. Sefiani, G.S Bak, H. Hove, L.K. Hansen, C.R. Fagerberg, M. Tajir, A.O.M. Wilkie

Clin Genet. 2016 Sep; 90(3): 270–275. Published online 2016 Feb 3. doi: 10.1111/cge.12721

PMCID:: PMC5025718

Abstract Article PDF–834K

Select item 41633743.

CpG Island Methylator Phenotype and Prognosis of Colorectal Cancer in Northeast China

Xia Li, Fulan Hu, Yibaina Wang, Xiaoping Yao, Zuoming Zhang, Fan Wang, Guizhi Sun, Bin-Bin Cui, Xinshu Dong, Yashuang Zhao

Biomed Res Int. 2014; 2014: 236361. Published online 2014 Aug 28. doi: 10.1155/2014/236361

PMCID:: PMC4163374

Abstract Article PDF–606K

Select item 32081884.

WDR36 and P53 Gene Variants and Susceptibility to Primary Open-Angle Glaucoma: Analysis of Gene-Gene Interactions

Cristina Blanco-Marchite, Francisco Sánchez-Sánchez, María-Pilar López-Garrido, Mercedes Iñigez-de-Onzoño, Francisco López-Martínez, Enrique López-Sánchez, Lydia Alvarez, Pedro-Pablo Rodríguez-Calvo, Carmen Méndez-Hernández, Luis Fernández-Vega, Julián García-Sánchez, Miguel Coca-Prados, Julián García-Feijoo, Julio Escribano

Invest Ophthalmol Vis Sci. 2011 Oct; 52(11): 8467–8478. Published online 2011 Oct 31. doi: 10.1167/iovs.11-7489

PMCID:: PMC3208188

Abstract Article PDF–1.2M

Select item 28347995.

ATR Preferentially Interacts with Common Fragile Site FRA3B and the Binding Requires its Kinase Activity in Response to Aphidicolin Treatment

Cheng Wan, Atul Kulkarni, Yuh-Hwa Wang

Mutat Res. Author manuscript; available in PMC 2011 Apr 1.

Published in final edited form as: Mutat Res. 2010 Apr 1; 686(1-2): 39–46. Published online 2010 Jan 7. doi: 10.1016/j.mrfmmm.2009.12.012

PMCID:: PMC2834799

Abstract Article PDF–637K

Select item 26429946.

Integrated Genomic Analysis Implicates Haploinsufficiency of Multiple Chromosome 5q31.2 Genes in De Novo Myelodysplastic Syndromes Pathogenesis

Timothy A. Graubert, Michelle A. Payton, Jin Shao, Richard A. Walgren, Ryan S. Monahan, John L. Frater, Mark A. Walshauser, Mike G. Martin, Yumi Kasai, Matthew J. Walter

PLoS One. 2009; 4(2): e4583. Published online 2009 Feb 25. doi: 10.1371/journal.pone.0004583

PMCID:: PMC2642994

Abstract Article PDF–449K

Select item 15743697.

Common genetic polymorphisms affect the human requirement for the nutrient choline

Kerry-Ann da Costa, Olga G. Kozyreva, Jiannan Song, Joseph A. Galanko, Leslie M. Fischer, Steven H. Zeisel

FASEB J. Author manuscript; available in PMC 2006 Sep 25.

Published in final edited form as: FASEB J. 2006 Jul; 20(9): 1336–1344. doi: 10.1096/fj.06-5734com

PMCID:: PMC1574369

Abstract Article PDF–120K

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