PMC Links for Nucleotide (Select 586597934) - PMC

Select item 60471571.

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Matthias Begemann, Faisal I Rezwan, Jasmin Beygo, Louise E Docherty, Julia Kolarova, Christopher Schroeder, Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L S Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G Mehta, Gareth Baynam, Julian P Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, Isabel Karen Temple, Thomas Eggermann, Deborah J G Mackay

J Med Genet. 2018 Jul; 55(7): 497–504. Published online 2018 Mar 24. doi: 10.1136/jmedgenet-2017-105190

PMCID:: PMC6047157

Abstract Article PDF–354K

Select item 60187852.

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

JianHua Qian, Ngoc Minh Phuong Nguyen, Maryam Rezaei, Bo Huang, YongLing Tao, XiaoFei Zhang, Qi Cheng, HanJin Yang, Ao Asangla, Jacek Majewski, Rima Slim

Eur J Hum Genet. 2018 Jul; 26(7): 1007–1013. Published online 2018 Apr 25. doi: 10.1038/s41431-018-0141-3

PMCID:: PMC6018785

Abstract Article PDF–1.8M

Select item 50106453.

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest

Yao Xu, Yingli Shi, Jing Fu, Min Yu, Ruizhi Feng, Qing Sang, Bo Liang, Biaobang Chen, Ronggui Qu, Bin Li, Zheng Yan, Xiaoyan Mao, Yanping Kuang, Li Jin, Lin He, Xiaoxi Sun, Lei Wang

Am J Hum Genet. 2016 Sep 1; 99(3): 744–752. Published online 2016 Aug 18. doi: 10.1016/j.ajhg.2016.06.024

PMCID:: PMC5010645

Abstract Article PDF–1.2M

Select item 33928394.

Myocardial citrullination in rheumatoid arthritis: a correlative histopathologic study

Jon T Giles, Justyna Fert-Bober, Jin Kyun Park, Clifton O Bingham, III, Felipe Andrade, Karen Fox-Talbot, Dimitrios Pappas, Antony Rosen, Jennifer van Eyk, Joan M Bathon, Marc K Halushka

Arthritis Res Ther. 2012; 14(1): R39. Published online 2012 Feb 24. doi: 10.1186/ar3752

PMCID:: PMC3392839

Abstract Article PDF–3.5M

Select item 60722005.

Whole-exome sequencing analysis of products of conception identifies novel mutations associated with missed abortion

Meng Fu, Sha Mu, Chunyan Wen, Shufang Jiang, Lin Li, Yuanguang Meng, Hongmei Peng

Mol Med Rep. 2018 Aug; 18(2): 2027–2032. Published online 2018 Jun 21. doi: 10.3892/mmr.2018.9201

PMCID:: PMC6072200

Abstract Article PDF–900K

Select item 43926196.

Transcriptomic signatures in whole blood of patients who acquire a chronic inflammatory response syndrome (CIRS) following an exposure to the marine toxin ciguatoxin

James C Ryan, Qingzhong Wu, Ritchie C Shoemaker

BMC Med Genomics. 2015; 8: 15. Published online 2015 Apr 2. doi: 10.1186/s12920-015-0089-x

PMCID:: PMC4392619

Abstract Article PDF–744K

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