PubMed (OMIM) for id: 341640

Year	Number of Results
1986	1
1992	1
1995	1
2004	1
2005	3
2006	1
2008	2
2018	2
2019	1
2024	0

1

Loss-of-function mutations in FREM2 disrupt eye morphogenesis.

Zhang X, Wang D, Dongye M, Zhu Y, Chen C, Wang R, Long E, Liu Z, Wu X, Lin D, Chen J, Lin Z, Wang J, Li W, Li Y, Li D, Lin H. Zhang X, et al. Exp Eye Res. 2019 Apr;181:302-312. doi: 10.1016/j.exer.2019.02.013. Epub 2019 Feb 22. Exp Eye Res. 2019. PMID: 30802441

2

A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.

Yu Q, Lin B, Xie S, Gao S, Li W, Liu Y, Wang H, Huang D, Xie Z. Yu Q, et al. Hum Mol Genet. 2018 Jul 1;27(13):2357-2366. doi: 10.1093/hmg/ddy144. Hum Mol Genet. 2018. PMID: 29688405 Free PMC article.

3

The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.

Jordan VK, Beck TF, Hernandez-Garcia A, Kundert PN, Kim BJ, Jhangiani SN, Gambin T, Starkovich M, Punetha J, Paine IS, Posey JE, Li AH, Muzny D, Hsu CW, Lashua AJ, Sun X, Fernandes CJ, Dickinson ME, Lally KP, Gibbs RA, Boerwinkle E, Lupski JR, Scott DA. Jordan VK, et al. Hum Mol Genet. 2018 Jun 15;27(12):2064-2075. doi: 10.1093/hmg/ddy110. Hum Mol Genet. 2018. PMID: 29618029 Free PMC article.

4

Molecular study of 33 families with Fraser syndrome new data and mutation review.

van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K; Fraser Syndrome Collaboration Group; Hennekam RC, Scambler PJ. van Haelst MM, et al. Am J Med Genet A. 2008 Sep 1;146A(17):2252-7. doi: 10.1002/ajmg.a.32440. Am J Med Genet A. 2008. PMID: 18671281

5

Fraser syndrome due to homozygosity for a splice site mutation of FREM2.

Shafeghati Y, Kniepert A, Vakili G, Zenker M. Shafeghati Y, et al. Am J Med Genet A. 2008 Feb 15;146A(4):529-31. doi: 10.1002/ajmg.a.32091. Am J Med Genet A. 2008. PMID: 18203166 No abstract available.

6

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. Kiyozumi D, et al. Proc Natl Acad Sci U S A. 2006 Aug 8;103(32):11981-6. doi: 10.1073/pnas.0601011103. Epub 2006 Jul 31. Proc Natl Acad Sci U S A. 2006. PMID: 16880404 Free PMC article.

7

Bilateral complete isolated cryptophthalmos: a case report.

Egier D, Orton R, Allen L, Siu VM. Egier D, et al. Ophthalmic Genet. 2005 Dec;26(4):185-9. doi: 10.1080/13816810500374557. Ophthalmic Genet. 2005. PMID: 16352480

8

Tissue morphogenesis and vascular stability require the Frem2 protein, product of the mouse myelencephalic blebs gene.

Timmer JR, Mak TW, Manova K, Anderson KV, Niswander L. Timmer JR, et al. Proc Natl Acad Sci U S A. 2005 Aug 16;102(33):11746-50. doi: 10.1073/pnas.0505404102. Epub 2005 Aug 8. Proc Natl Acad Sci U S A. 2005. PMID: 16087869 Free PMC article.

9

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.

Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez Aytes A, Watt FM, Darling SM, Jackson I, Woolf AS, Scambler PJ. Jadeja S, et al. Nat Genet. 2005 May;37(5):520-5. doi: 10.1038/ng1549. Epub 2005 Apr 17. Nat Genet. 2005. PMID: 15838507

10

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. Smyth I, et al. Proc Natl Acad Sci U S A. 2004 Sep 14;101(37):13560-5. doi: 10.1073/pnas.0402760101. Epub 2004 Sep 2. Proc Natl Acad Sci U S A. 2004. PMID: 15345741 Free PMC article.

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