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GFI1B mutation causes a bleeding disorder with abnormal platelet function.
Stevenson WS, Morel-Kopp MC, Chen Q, Liang HP, Bromhead CJ, Wright S, Turakulov R, Ng AP, Roberts AW, Bahlo M, Ward CM. Stevenson WS, et al. Among authors: bahlo m. J Thromb Haemost. 2013 Nov;11(11):2039-47. doi: 10.1111/jth.12368. J Thromb Haemost. 2013. PMID: 23927492 Free article.
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.
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.
Deficiency of 5-hydroxyisourate hydrolase causes hepatomegaly and hepatocellular carcinoma in mice.
Stevenson WS, Hyland CD, Zhang JG, Morgan PO, Willson TA, Gill A, Hilton AA, Viney EM, Bahlo M, Masters SL, Hennebry S, Richardson SJ, Nicola NA, Metcalf D, Hilton DJ, Roberts AW, Alexander WS. Stevenson WS, et al. Among authors: bahlo m. Proc Natl Acad Sci U S A. 2010 Sep 21;107(38):16625-30. doi: 10.1073/pnas.1010390107. Epub 2010 Sep 7. Proc Natl Acad Sci U S A. 2010. PMID: 20823251 Free PMC article.
Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.
Hildebrand MS, Kahrizi K, Bromhead CJ, Shearer AE, Webster JA, Khodaei H, Abtahi R, Bazazzadegan N, Babanejad M, Nikzat N, Kimberling WJ, Stephan D, Huygen PL, Bahlo M, Smith RJ, Najmabadi H. Hildebrand MS, et al. Among authors: bahlo m. Ann Otol Rhinol Laryngol. 2010 Dec;119(12):830-5. doi: 10.1177/000348941011901207. Ann Otol Rhinol Laryngol. 2010. PMID: 21250555 Free PMC article.
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF. Arsov T, et al. Among authors: bahlo m. Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549341 Free PMC article.
313 results