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Results: 7

1.

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
2.

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
3.

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
4.

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M.

J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20.

PMID:
21507892
[PubMed - indexed for MEDLINE]
5.

Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome.

Yeung A, Amor D, Savarirayan R.

Am J Med Genet A. 2009 Feb 15;149A(4):767-9. doi: 10.1002/ajmg.a.32743.

PMID:
19291776
[PubMed - indexed for MEDLINE]
6.

Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.

Li C, Marles SL, Greenberg CR, Chodirker BN, van de Kamp J, Slavotinek A, Chudley AE.

Am J Med Genet A. 2007 Apr 15;143A(8):853-7.

PMID:
17352387
[PubMed - indexed for MEDLINE]
7.

Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.

Slavotinek A, Li C, Sherr EH, Chudley AE.

Am J Med Genet A. 2006 Sep 15;140(18):1909-14.

PMID:
16894541
[PubMed - indexed for MEDLINE]

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