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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: woolf as. Nat Genet. 2003 Jun;34(2):203-8. doi: 10.1038/ng1142. Nat Genet. 2003. PMID: 12766769
Evolving concepts in human renal dysplasia.
Woolf AS, Price KL, Scambler PJ, Winyard PJ. Woolf AS, et al. J Am Soc Nephrol. 2004 Apr;15(4):998-1007. doi: 10.1097/01.asn.0000113778.06598.6f. J Am Soc Nephrol. 2004. PMID: 15034102 Review.
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. Among authors: woolf as. Nat Genet. 2005 May;37(5):520-5. doi: 10.1038/ng1549. Epub 2005 Apr 17. Nat Genet. 2005. PMID: 15838507
Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred.
Kerecuk L, Sajoo A, McGregor L, Berg J, Haq MR, Sebire NJ, Bingham C, Edghill EL, Ellard S, Taylor J, Rigden S, Flinter FA, Woolf AS. Kerecuk L, et al. Among authors: woolf as. Nephrol Dial Transplant. 2007 Jan;22(1):259-63. doi: 10.1093/ndt/gfl531. Epub 2006 Sep 23. Nephrol Dial Transplant. 2007. PMID: 16998226 No abstract available.
Mutations in HPSE2 cause urofacial syndrome.
Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG. Daly SB, et al. Among authors: woolf as. Am J Hum Genet. 2010 Jun 11;86(6):963-9. doi: 10.1016/j.ajhg.2010.05.006. Am J Hum Genet. 2010. PMID: 20560210 Free PMC article.
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.
Caubit X, Gubellini P, Andrieux J, Roubertoux PL, Metwaly M, Jacq B, Fatmi A, Had-Aissouni L, Kwan KY, Salin P, Carlier M, Liedén A, Rudd E, Shinawi M, Vincent-Delorme C, Cuisset JM, Lemaitre MP, Abderrehamane F, Duban B, Lemaitre JF, Woolf AS, Bockenhauer D, Severac D, Dubois E, Zhu Y, Sestan N, Garratt AN, Lydia Kerkerian-Le Goff, Fasano L. Caubit X, et al. Among authors: woolf as. Nat Genet. 2016 Nov;48(11):1359-1369. doi: 10.1038/ng.3681. Epub 2016 Sep 26. Nat Genet. 2016. PMID: 27668656 Free PMC article.
246 results