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GRM7 variants confer susceptibility to age-related hearing impairment.
Friedman RA, Van Laer L, Huentelman MJ, Sheth SS, Van Eyken E, Corneveaux JJ, Tembe WD, Halperin RF, Thorburn AQ, Thys S, Bonneux S, Fransen E, Huyghe J, Pyykkö I, Cremers CW, Kremer H, Dhooge I, Stephens D, Orzan E, Pfister M, Bille M, Parving A, Sorri M, Van de Heyning PH, Makmura L, Ohmen JD, Linthicum FH Jr, Fayad JN, Pearson JV, Craig DW, Stephan DA, Van Camp G. Friedman RA, et al. Among authors: thorburn aq. Hum Mol Genet. 2009 Feb 15;18(4):785-96. doi: 10.1093/hmg/ddn402. Epub 2008 Dec 1. Hum Mol Genet. 2009. PMID: 19047183 Free PMC article.
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.
Hilgert N, Huentelman MJ, Thorburn AQ, Fransen E, Dieltjens N, Mueller-Malesinska M, Pollak A, Skorka A, Waligora J, Ploski R, Castorina P, Primignani P, Ambrosetti U, Murgia A, Orzan E, Pandya A, Arnos K, Norris V, Seeman P, Janousek P, Feldmann D, Marlin S, Denoyelle F, Nishimura CJ, Janecke A, Nekahm-Heis D, Martini A, Mennucci E, Tóth T, Sziklai I, Del Castillo I, Moreno F, Petersen MB, Iliadou V, Tekin M, Incesulu A, Nowakowska E, Bal J, Van de Heyning P, Roux AF, Blanchet C, Goizet C, Lancelot G, Fialho G, Caria H, Liu XZ, Xiaomei O, Govaerts P, Grønskov K, Hostmark K, Frei K, Dhooge I, Vlaeminck S, Kunstmann E, Van Laer L, Smith RJ, Van Camp G. Hilgert N, et al. Among authors: thorburn aq. Eur J Hum Genet. 2009 Apr;17(4):517-24. doi: 10.1038/ejhg.2008.201. Epub 2008 Nov 5. Eur J Hum Genet. 2009. PMID: 18985073 Free PMC article.
Takotsubo Cardiomyopathy Following Traumatic Hand Amputation: A Case Report.
Bacro-Duverger BH, Thorburn AQ, Denney BD, Gullett JP, Thompson MA, Pigott DC. Bacro-Duverger BH, et al. Among authors: thorburn aq. Clin Pract Cases Emerg Med. 2022 Aug;6(3):225-228. doi: 10.5811/cpcem.2022.2.55463. Clin Pract Cases Emerg Med. 2022. PMID: 36049187 Free PMC article.