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Results: 13

1.

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
2.

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]
Free PMC Article
3.

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS.

Am J Hum Genet. 2009 Sep;85(3):414-8. doi: 10.1016/j.ajhg.2009.08.010. Erratum in: Am J Hum Genet. 2009 Nov;85(5):756.

PMID:
19732862
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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]
5.

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.

Swinkels ME, Simons A, Smeets DF, Vissers LE, Veltman JA, Pfundt R, de Vries BB, Faas BH, Schrander-Stumpel CT, McCann E, Sweeney E, May P, Draaisma JM, Knoers NV, van Kessel AG, van Ravenswaaij-Arts CM.

Am J Med Genet A. 2008 Jun 1;146A(11):1430-8. doi: 10.1002/ajmg.a.32310.

PMID:
18452192
[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]
8.

Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.

Kiyozumi D, Sugimoto N, Sekiguchi K.

Proc Natl Acad Sci U S A. 2006 Aug 8;103(32):11981-6. Epub 2006 Jul 31.

PMID:
16880404
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis.

Smyth I, Du X, Taylor MS, Justice MJ, Beutler B, Jackson IJ.

Proc Natl Acad Sci U S A. 2004 Sep 14;101(37):13560-5. Epub 2004 Sep 2.

PMID:
15345741
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations.

Al-Gazali LI, Bakir M, Hamud OA, Gerami S.

Clin Dysmorphol. 2002 Jan;11(1):33-8.

PMID:
11822703
[PubMed - indexed for MEDLINE]
11.

Micro-ablepharon of the upper eyelids and vaginal atresia.

Fryns JP.

Genet Couns. 2001;12(1):101-2. No abstract available.

PMID:
11332973
[PubMed - indexed for MEDLINE]
12.

New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians.

Marles SL, Greenberg CR, Persaud TV, Shuckett EP, Chudley AE.

Am J Med Genet. 1992 Apr 1;42(6):793-9.

PMID:
1554017
[PubMed - indexed for MEDLINE]
13.

Anatomical classification facial, cranio-facial and latero-facial clefts.

Tessier P.

J Maxillofac Surg. 1976 Jun;4(2):69-92.

PMID:
820824
[PubMed - indexed for MEDLINE]
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