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Results: 8

1.

Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.

Beck TF, Shchelochkov OA, Yu Z, Kim BJ, Hernández-García A, Zaveri HP, Bishop C, Overbeek PA, Stockton DW, Justice MJ, Scott DA.

PLoS One. 2013;8(3):e58830. doi: 10.1371/journal.pone.0058830. Epub 2013 Mar 11.

PMID:
23536828
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.

Nathanson J, Swarr DT, Singer A, Liu M, Chinn A, Jones W, Hurst J, Khalek N, Zackai E, Slavotinek A.

Am J Med Genet A. 2013 Mar;161A(3):473-8. doi: 10.1002/ajmg.a.35736. Epub 2013 Feb 8.

PMID:
23401257
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA.

Hum Mol Genet. 2013 Mar 1;22(5):1026-38. doi: 10.1093/hmg/dds507. Epub 2012 Dec 5.

PMID:
23221805
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A wedge-shaped anterior hairline extension associated with a tessier number 10 cleft.

Lee HM, Noh TK, Yoo HW, Kim SB, Won CH, Chang SE, Lee MW, Choi JH, Moon KC.

Ann Dermatol. 2012 Nov;24(4):464-7. doi: 10.5021/ad.2012.24.4.464. Epub 2012 Nov 8.

PMID:
23197915
[PubMed]
Free PMC Article
5.

MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.

Mitter D, Schanze D, Sterker I, Müller D, Till H, Zenker M.

Mol Syndromol. 2012 Sep;3(3):136-139. Epub 2012 Jul 25.

PMID:
23112756
[PubMed]
Free PMC Article
6.

fras1 shapes endodermal pouch 1 and stabilizes zebrafish pharyngeal skeletal development.

Talbot JC, Walker MB, Carney TJ, Huycke TR, Yan YL, BreMiller RA, Gai L, Delaurier A, Postlethwait JH, Hammerschmidt M, Kimmel CB.

Development. 2012 Aug;139(15):2804-13. doi: 10.1242/dev.074906.

PMID:
22782724
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.

Mateo RK, Johnson R, Lehmann OJ.

Mol Vis. 2012;18:1301-11. Epub 2012 May 30.

PMID:
22690109
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T.

PLoS Genet. 2011 Sep;7(9):e1002278. doi: 10.1371/journal.pgen.1002278. Epub 2011 Sep 8.

PMID:
21931569
[PubMed - indexed for MEDLINE]
Free PMC Article

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