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Items: 6

1.
A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos
Qian Yu, Bingying Lin, Shangqian Xie, Song Gao, Wei Li, Yizhi Liu, Hongwei Wang, Danping Huang, Zhi Xie
Hum Mol Genet. 2018 Jul 1; 27(13): 2357–2366. Published online 2018 Apr 24. doi: 10.1093/hmg/ddy144
PMCID:
PMC6251612
AbstractArticlePDF–806K
2.
Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2
Myoung Keun Lee, John R. Shaffer, Elizabeth J. Leslie, Ekaterina Orlova, Jenna C. Carlson, Eleanor Feingold, Mary L. Marazita, Seth M. Weinberg
PLoS One. 2017; 12(4): e0176566. Published online 2017 Apr 25. doi: 10.1371/journal.pone.0176566
PMCID:
PMC5404842
AbstractArticlePDF–5.6M
3.
Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract
Stefan Kohl, Daw-Yang Hwang, Gabriel C. Dworschak, Alina C. Hilger, Pawaree Saisawat, Asaf Vivante, Natasa Stajic, Radovan Bogdanovic, Heiko M. Reutter, Elijah O. Kehinde, Velibor Tasic, Friedhelm Hildebrandt
J Am Soc Nephrol. 2014 Sep; 25(9): 1917–1922. Published online 2014 Apr 3. doi: 10.1681/ASN.2013101103
PMCID:
PMC4147986
AbstractArticle
4.
TILRR, a Novel IL-1RI Co-receptor, Potentiates MyD88 Recruitment to Control Ras-dependent Amplification of NF-κB
Xiao Zhang, Freya Shephard, Hong B. Kim, Ian R. Palmer, Selina McHarg, Gregory J. S. Fowler, Luke A. J. O'Neill, Endre Kiss-Toth, Eva E. Qwarnstrom
J Biol Chem. 2010 Mar 5; 285(10): 7222–7232. Published online 2009 Nov 25. doi: 10.1074/jbc.M109.073429
Correction in:
J Biol Chem. 2010 Jun 4; 285(23): 18122.
PMCID:
PMC2844171
AbstractArticlePDF–2.8M
5.
FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome
Anas M. Alazami, Ranad Shaheen, Fatema Alzahrani, Katie Snape, Anand Saggar, Bernd Brinkmann, Prashant Bavi, Lihadh I. Al-Gazali, Fowzan S. Alkuraya
Am J Hum Genet. 2009 Sep 11; 85(3): 414–418. doi: 10.1016/j.ajhg.2009.08.010
Correction in:
Am J Hum Genet. 2009 Nov 13; 85(5): 756.
PMCID:
PMC2771533
AbstractArticlePDF–518K
6.
The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis
Ian Smyth, Xin Du, Martin S. Taylor, Monica J. Justice, Bruce Beutler, Ian J. Jackson
Proc Natl Acad Sci U S A. 2004 Sep 14; 101(37): 13560–13565. Published online 2004 Sep 2. doi: 10.1073/pnas.0402760101
PMCID:
PMC518794
AbstractArticlePDF–779K

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