Bitner-Glindzicz M - Search Results

1

Haplotype analysis of the USH1D locus and genotype-phenotype correlations.

Liu XZ, Blanton SH, Bitner-Glindzicz M, Pandya A, Landa B, MacArdle B, Rajput K, Bellman S, Webb BT, Ping X, Smith RJ, Nance WE. Liu XZ, et al. Clin Genet. 2001 Jul;60(1):58-62. doi: 10.1034/j.1399-0004.2001.600109.x. Clin Genet. 2001. PMID: 11531971

2

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ. Bork JM, et al. Am J Hum Genet. 2001 Jan;68(1):26-37. doi: 10.1086/316954. Epub 2000 Nov 21. Am J Hum Genet. 2001. PMID: 11090341 Free PMC article.

3

Mapping of DFN2 to Xq22.

Tyson J, Bellman S, Newton V, Simpson P, Malcolm S, Pembrey ME, Bitner-Glindzicz M. Tyson J, et al. Hum Mol Genet. 1996 Dec;5(12):2055-60. doi: 10.1093/hmg/5.12.2055. Hum Mol Genet. 1996. PMID: 8968763

4

Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families.

Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B, Bitner-Glindzicz M. Rickard S, et al. J Med Genet. 2001 Aug;38(8):530-3. doi: 10.1136/jmg.38.8.530. J Med Genet. 2001. PMID: 11494963 Free PMC article. No abstract available.

5

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.

Hutchin T, Coy NN, Conlon H, Telford E, Bromelow K, Blaydon D, Taylor G, Coghill E, Brown S, Trembath R, Liu XZ, Bitner-Glindzicz M, Mueller R. Hutchin T, et al. Clin Genet. 2005 Dec;68(6):506-12. doi: 10.1111/j.1399-0004.2005.00539.x. Clin Genet. 2005. PMID: 16283880

6

IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome.

Tyson J, Tranebjaerg L, Bellman S, Wren C, Taylor JF, Bathen J, Aslaksen B, Sørland SJ, Lund O, Malcolm S, Pembrey M, Bhattacharya S, Bitner-Glindzicz M. Tyson J, et al. Hum Mol Genet. 1997 Nov;6(12):2179-85. doi: 10.1093/hmg/6.12.2179. Hum Mol Genet. 1997. PMID: 9328483

7

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.

Landa P, Differ AM, Rajput K, Jenkins L, Bitner-Glindzicz M. Landa P, et al. BMC Med Genet. 2013 Aug 21;14:85. doi: 10.1186/1471-2350-14-85. BMC Med Genet. 2013. PMID: 23965030 Free PMC article.

8

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B. Bitner-Glindzicz M, et al. Nat Genet. 2000 Sep;26(1):56-60. doi: 10.1038/79178. Nat Genet. 2000. PMID: 10973248

9

Aetiological investigations of hearing loss in childhood: a review.

Bamiou DE, MacArdle B, Bitner-Glindzicz M, Sirimanna T. Bamiou DE, et al. Clin Otolaryngol Allied Sci. 2000 Apr;25(2):98-106. doi: 10.1046/j.1365-2273.2000.00346.x. Clin Otolaryngol Allied Sci. 2000. PMID: 10816211 Review. No abstract available.

10

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. Hum Genet. 2018 Feb;137(2):111-127. doi: 10.1007/s00439-017-1862-z. Epub 2018 Jan 5. Hum Genet. 2018. PMID: 29305691

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