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Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. Borck G, et al. Among authors: bahlo m. Am J Hum Genet. 2011 Feb 11;88(2):127-37. doi: 10.1016/j.ajhg.2010.12.011. Epub 2011 Jan 20. Am J Hum Genet. 2011. PMID: 21255762 Free PMC article.
Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26.
Treloar SA, Wicks J, Nyholt DR, Montgomery GW, Bahlo M, Smith V, Dawson G, Mackay IJ, Weeks DE, Bennett ST, Carey A, Ewen-White KR, Duffy DL, O'connor DT, Barlow DH, Martin NG, Kennedy SH. Treloar SA, et al. Among authors: bahlo m. Am J Hum Genet. 2005 Sep;77(3):365-76. doi: 10.1086/432960. Epub 2005 Jul 21. Am J Hum Genet. 2005. PMID: 16080113 Free PMC article.
Cochlear implants for DFNA17 deafness.
Hildebrand MS, de Silva MG, Gardner RJ, Rose E, de Graaf CA, Bahlo M, Dahl HH. Hildebrand MS, et al. Among authors: bahlo m. Laryngoscope. 2006 Dec;116(12):2211-5. doi: 10.1097/01.mlg.0000242089.72880.f8. Laryngoscope. 2006. PMID: 17146397
A novel splice site mutation in EYA4 causes DFNA10 hearing loss.
Hildebrand MS, Coman D, Yang T, Gardner RJ, Rose E, Smith RJ, Bahlo M, Dahl HH. Hildebrand MS, et al. Among authors: bahlo m. Am J Med Genet A. 2007 Jul 15;143A(14):1599-604. doi: 10.1002/ajmg.a.31860. Am J Med Genet A. 2007. PMID: 17568404
A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.
Shearer AE, Hildebrand MS, Bromhead CJ, Kahrizi K, Webster JA, Azadeh B, Kimberling WJ, Anousheh A, Nazeri A, Stephan D, Najmabadi H, Smith RJ, Bahlo M. Shearer AE, et al. Among authors: bahlo m. Am J Med Genet A. 2009 Mar;149A(3):555-8. doi: 10.1002/ajmg.a.32670. Am J Med Genet A. 2009. PMID: 19215054 Free PMC article. No abstract available.
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.
Grillet N, Schwander M, Hildebrand MS, Sczaniecka A, Kolatkar A, Velasco J, Webster JA, Kahrizi K, Najmabadi H, Kimberling WJ, Stephan D, Bahlo M, Wiltshire T, Tarantino LM, Kuhn P, Smith RJ, Müller U. Grillet N, et al. Among authors: bahlo m. Am J Hum Genet. 2009 Sep;85(3):328-37. doi: 10.1016/j.ajhg.2009.07.017. Am J Hum Genet. 2009. PMID: 19732867 Free PMC article.
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.
Hildebrand MS, Thorne NP, Bromhead CJ, Kahrizi K, Webster JA, Fattahi Z, Bataejad M, Kimberling WJ, Stephan D, Najmabadi H, Bahlo M, Smith RJ. Hildebrand MS, et al. Among authors: bahlo m. Clin Genet. 2010 Jun;77(6):563-71. doi: 10.1111/j.1399-0004.2009.01344.x. Epub 2010 Feb 4. Clin Genet. 2010. PMID: 20132242 Free PMC article.
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J. Corbett MA, et al. Among authors: bahlo m. Am J Hum Genet. 2010 Sep 10;87(3):371-5. doi: 10.1016/j.ajhg.2010.08.001. Am J Hum Genet. 2010. PMID: 20797691 Free PMC article.
313 results