Luxon L - Search Results

1

The changing face of Usher syndrome: clinical implications.

Cohen M, Bitner-Glindzicz M, Luxon L. Cohen M, et al. Among authors: luxon l. Int J Audiol. 2007 Feb;46(2):82-93. doi: 10.1080/14992020600975279. Int J Audiol. 2007. PMID: 17365059 Review.

2

Update on Usher syndrome.

Saihan Z, Webster AR, Luxon L, Bitner-Glindzicz M. Saihan Z, et al. Among authors: luxon l. Curr Opin Neurol. 2009 Feb;22(1):19-27. doi: 10.1097/wco.0b013e3283218807. Curr Opin Neurol. 2009. PMID: 19165952 Review.

3

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M. Le Quesne Stabej P, et al. J Med Genet. 2012 Jan;49(1):27-36. doi: 10.1136/jmedgenet-2011-100468. Epub 2011 Dec 1. J Med Genet. 2012. PMID: 22135276 Free PMC article.

4

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.

Steele-Stallard HB, Le Quesne Stabej P, Lenassi E, Luxon LM, Claustres M, Roux AF, Webster AR, Bitner-Glindzicz M. Steele-Stallard HB, et al. Orphanet J Rare Dis. 2013 Aug 8;8:122. doi: 10.1186/1750-1172-8-122. Orphanet J Rare Dis. 2013. PMID: 23924366 Free PMC article.

5

Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.

Lenassi E, Saihan Z, Cipriani V, Le Quesne Stabej P, Moore AT, Luxon LM, Bitner-Glindzicz M, Webster AR. Lenassi E, et al. Ophthalmology. 2014 Feb;121(2):580-7. doi: 10.1016/j.ophtha.2013.09.017. Epub 2013 Nov 5. Ophthalmology. 2014. PMID: 24199935

6

Neuro-otological findings in Pendred syndrome.

Luxon LM, Cohen M, Coffey RA, Phelps PD, Britton KE, Jan H, Trembath RC, Reardon W. Luxon LM, et al. Int J Audiol. 2003 Mar;42(2):82-8. doi: 10.3109/14992020309078339. Int J Audiol. 2003. PMID: 12641391

7

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, Moore AT, Steel KP, Luxon LM, Héon E, Bitner-Glindzicz M, Webster AR. Lenassi E, et al. Eur J Hum Genet. 2015 Oct;23(10):1318-27. doi: 10.1038/ejhg.2014.283. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649381 Free PMC article.

8

Clinical heterogeneity in a family with mutations in USH2A.

Lenassi E, Robson AG, Luxon LM, Bitner-Glindzicz M, Webster AR. Lenassi E, et al. JAMA Ophthalmol. 2015 Mar;133(3):352-5. doi: 10.1001/jamaophthalmol.2014.5163. JAMA Ophthalmol. 2015. PMID: 25521520 No abstract available.

9

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, Kopec W, Lyngbye TJB, Hamel C, Delettre C, Bocquet B, Bille M, Owen HH, Bek T, Jensen H, Østergaard K, Möller C, Luxon L, Carr L, Wilson L, Rajput K, Sirimanna T, Harrop-Griffiths K, Rahman S, Vona B, Doll J, Haaf T, Bartsch O, Rosewich H, Moser T, Bitner-Glindzicz M. Tranebjærg L, et al. Among authors: luxon l. Hum Genet. 2018 Feb;137(2):111-127. doi: 10.1007/s00439-017-1862-z. Epub 2018 Jan 5. Hum Genet. 2018. PMID: 29305691

10

Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss.

Saihan Z, Stabej Ple Q, Robson AG, Rangesh N, Holder GE, Moore AT, Steel KP, Luxon LM, Bitner-Glindzicz M, Webster AR. Saihan Z, et al. Retina. 2011 Sep;31(8):1708-16. doi: 10.1097/IAE.0b013e31820d3fd1. Retina. 2011. PMID: 21487335

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