PMC Links for Nucleotide (Select 1788703480) - PMC

Select item 55864551.

De Novo FGF12 (Fibroblast Growth Factor 12) Functional Variation Is Potentially Associated With Idiopathic Ventricular Tachycardia

Qianqian Li, Yuanyuan Zhao, Gang Wu, Shanshan Chen, Yingchao Zhou, Sisi Li, Mengchen Zhou, Qian Fan, Jielin Pu, Kui Hong, Xiang Cheng, Qing Kenneth Wang, Xin Tu

J Am Heart Assoc. 2017 Aug; 6(8): e006130. Published online 2017 Aug 3. doi: 10.1161/JAHA.117.006130

PMCID:: PMC5586455

Abstract Article PDF–1.3M

Select item 50657822.

Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways

Erin M. Hagen, Robert J. Sicko, Denise M. Kay, Shannon L. Rigler, Aggeliki Dimopoulos, Shabbir Ahmad, Margaret H. Doleman, Ruzong Fan, Paul A. Romitti, Marilyn L. Browne, Michele Caggana, Lawrence C. Brody, Gary M. Shaw, Laura L. Jelliffe-Pawlowski, James L. Mills

Hum Genet. Author manuscript; available in PMC 2017 Dec 1.

Published in final edited form as: Hum Genet. 2016 Dec; 135(12): 1355–1364. Published online 2016 Sep 15. doi: 10.1007/s00439-016-1727-x

PMCID:: PMC5065782

Abstract Article PDF–357K

Select item 385183.

Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development.

P M Smallwood, I Munoz-Sanjuan, P Tong, J P Macke, S H Hendry, D J Gilbert, N G Copeland, N A Jenkins, J Nathans

Proc Natl Acad Sci U S A. 1996 Sep 3; 93(18): 9850–9857. doi: 10.1073/pnas.93.18.9850

PMCID:: PMC38518

Summary Page Browse PDF–2.8M

Select item 48983114.

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

Aleksandra Siekierska, Mala Isrie, Yue Liu, Chloë Scheldeman, Niels Vanthillo, Lieven Lagae, Peter A.M. de Witte, Hilde Van Esch, Mitchell Goldfarb, Gunnar M. Buyse

Neurology. 2016 Jun 7; 86(23): 2162–2170. doi: 10.1212/WNL.0000000000002752

PMCID:: PMC4898311

Abstract Article PDF–862K

Select item 46035025.

SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia

Hassan Musa, Crystal F. Kline, Amy C. Sturm, Nathaniel Murphy, Sara Adelman, Chaojian Wang, Haidun Yan, Benjamin L. Johnson, Thomas A. Csepe, Ahmet Kilic, Robert S. D. Higgins, Paul M. L. Janssen, Vadim V. Fedorov, Raul Weiss, Christina Salazar, Thomas J. Hund, Geoffrey S. Pitt, Peter J. Mohler

Proc Natl Acad Sci U S A. 2015 Oct 6; 112(40): 12528–12533. Published online 2015 Sep 21. doi: 10.1073/pnas.1516430112

PMCID:: PMC4603502

Abstract Article PDF–1.4M

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