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Page 1
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: beetz c. 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.
First HPSE2 missense mutation in urofacial syndrome.
Mahmood S, Beetz C, Tahir MM, Imran M, Mumtaz R, Bassmann I, Jahic A, Malik M, Nürnberg G, Hassan SA, Rana S, Nürnberg P, Hübner CA. Mahmood S, et al. Among authors: beetz c. Clin Genet. 2012 Jan;81(1):88-92. doi: 10.1111/j.1399-0004.2011.01649.x. Epub 2011 Mar 10. Clin Genet. 2012. PMID: 21332471
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: beetz c. 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.
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.
Varga RE, Schüle R, Fadel H, Valenzuela I, Speziani F, Gonzalez M, Rudenskaia G, Nürnberg G, Thiele H, Altmüller J, Alvarez V, Gamez J, Garbern JY, Nürnberg P, Zuchner S, Beetz C. Varga RE, et al. Among authors: beetz c. Hum Mutat. 2013 Jun;34(6):860-3. doi: 10.1002/humu.22309. Epub 2013 Apr 5. Hum Mutat. 2013. PMID: 23483706
Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas.
Smith MJ, Wallace AJ, Bennett C, Hasselblatt M, Elert-Dobkowska E, Evans LT, Hickey WF, van Hoff J, Bauer D, Lee A, Hevner RF, Beetz C, du Plessis D, Kilday JP, Newman WG, Evans DG. Smith MJ, et al. Among authors: beetz c. J Pathol. 2014 Dec;234(4):436-40. doi: 10.1002/path.4427. Epub 2014 Oct 6. J Pathol. 2014. PMID: 25143307
Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.
Smith MJ, Beetz C, Williams SG, Bhaskar SS, O'Sullivan J, Anderson B, Daly SB, Urquhart JE, Bholah Z, Oudit D, Cheesman E, Kelsey A, McCabe MG, Newman WG, Evans DG. Smith MJ, et al. Among authors: beetz c. J Clin Oncol. 2014 Dec 20;32(36):4155-61. doi: 10.1200/JCO.2014.58.2569. Epub 2014 Nov 17. J Clin Oncol. 2014. PMID: 25403219
150 results