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Page 1
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Green TE, Motelow JE, Bennett MF, Ye Z, Bennett CA, Griffin NG, Damiano JA, Leventer RJ, Freeman JL, Harvey AS, Lockhart PJ, Sadleir LG, Boys A, Scheffer IE, Major H, Darbro BW, Bahlo M, Goldstein DB, Kerrigan JF, Heinzen EL, Berkovic SF, Hildebrand MS. Green TE, et al. Among authors: bahlo m. Hum Mol Genet. 2022 Jul 21;31(14):2307-2316. doi: 10.1093/hmg/ddab366. Hum Mol Genet. 2022. PMID: 35137044 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
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, Lüllmann-Rauch R, Blanz J, Zhang KW, Stankovich J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D'Hooge R, Vadlamudi L, Macdonell RA, Hodgson BL, Bayly MA, Savige J, Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M. Berkovic SF, et al. Among authors: bahlo m. Am J Hum Genet. 2008 Mar;82(3):673-84. doi: 10.1016/j.ajhg.2007.12.019. Epub 2008 Feb 28. Am J Hum Genet. 2008. PMID: 18308289 Free PMC article.
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.
330 results