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LRIG2 mutations cause urofacial syndrome.
Stuart HM, Roberts NA, Burgu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson JE, Mermerkaya M, Silay MS, Lewis MA, Olondriz MB, Gener B, Beetz C, Varga RE, Gülpınar O, Süer E, Soygür T, Ozçakar ZB, Yalçınkaya F, Kavaz A, Bulum B, Gücük A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG. Stuart HM, et al. Among authors: hilton en. Am J Hum Genet. 2013 Feb 7;92(2):259-64. doi: 10.1016/j.ajhg.2012.12.002. Epub 2013 Jan 11. Am J Hum Genet. 2013. PMID: 23313374 Free PMC article.
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. 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.
Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.
Roberts NA, Hilton EN, Lopes FM, Singh S, Randles MJ, Gardiner NJ, Chopra K, Coletta R, Bajwa Z, Hall RJ, Yue WW, Schaefer F, Weber S, Henriksson R, Stuart HM, Hedman H, Newman WG, Woolf AS. Roberts NA, et al. Among authors: hilton en. Kidney Int. 2019 May;95(5):1138-1152. doi: 10.1016/j.kint.2018.11.040. Epub 2019 Mar 8. Kidney Int. 2019. PMID: 30885509 Free PMC article.
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.
Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG. Banka S, et al. Am J Hum Genet. 2011 Feb 11;88(2):216-25. doi: 10.1016/j.ajhg.2011.01.004. Am J Hum Genet. 2011. PMID: 21310276 Free PMC article.
Urinary tract effects of HPSE2 mutations.
Stuart HM, Roberts NA, Hilton EN, McKenzie EA, Daly SB, Hadfield KD, Rahal JS, Gardiner NJ, Tanley SW, Lewis MA, Sites E, Angle B, Alves C, Lourenço T, Rodrigues M, Calado A, Amado M, Guerreiro N, Serras I, Beetz C, Varga RE, Silay MS, Darlow JM, Dobson MG, Barton DE, Hunziker M, Puri P, Feather SA, Goodship JA, Goodship TH, Lambert HJ, Cordell HJ; UK VUR Study Group; Saggar A, Kinali M; 4C Study Group; Lorenz C, Moeller K, Schaefer F, Bayazit AK, Weber S, Newman WG, Woolf AS. Stuart HM, et al. Among authors: hilton en. J Am Soc Nephrol. 2015 Apr;26(4):797-804. doi: 10.1681/ASN.2013090961. Epub 2014 Aug 21. J Am Soc Nephrol. 2015. PMID: 25145936 Free PMC article.
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