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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. Among authors: jadeja s. 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
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.
McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ. McGregor L, et al. Among authors: jadeja s. Nat Genet. 2003 Jun;34(2):203-8. doi: 10.1038/ng1142. Nat Genet. 2003. PMID: 12766769
A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].
Cross SH, Macalinao DG, McKie L, Rose L, Kearney AL, Rainger J, Thaung C, Keighren M, Jadeja S, West K, Kneeland SC, Smith RS, Howell GR, Young F, Robertson M, van T' Hof R, John SW, Jackson IJ. Cross SH, et al. Among authors: jadeja s. PLoS Genet. 2014 May 8;10(5):e1004359. doi: 10.1371/journal.pgen.1004359. eCollection 2014 May. PLoS Genet. 2014. PMID: 24809698 Free PMC article.
Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss.
Chen J, Ingham N, Kelly J, Jadeja S, Goulding D, Pass J, Mahajan VB, Tsang SH, Nijnik A, Jackson IJ, White JK, Forge A, Jagger D, Steel KP. Chen J, et al. Among authors: jadeja s. PLoS Genet. 2014 Oct 30;10(10):e1004688. doi: 10.1371/journal.pgen.1004688. eCollection 2014 Oct. PLoS Genet. 2014. PMID: 25356849 Free PMC article.
EuroPhenome: a repository for high-throughput mouse phenotyping data.
Morgan H, Beck T, Blake A, Gates H, Adams N, Debouzy G, Leblanc S, Lengger C, Maier H, Melvin D, Meziane H, Richardson D, Wells S, White J, Wood J; EUMODIC Consortium; de Angelis MH, Brown SD, Hancock JM, Mallon AM. Morgan H, et al. Nucleic Acids Res. 2010 Jan;38(Database issue):D577-85. doi: 10.1093/nar/gkp1007. Epub 2009 Nov 23. Nucleic Acids Res. 2010. PMID: 19933761 Free PMC article.
55 results