Bitner-Glindzicz M - Search Results

1

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome.

Schwartz PJ, Spazzolini C, Crotti L, Bathen J, Amlie JP, Timothy K, Shkolnikova M, Berul CI, Bitner-Glindzicz M, Toivonen L, Horie M, Schulze-Bahr E, Denjoy I. Schwartz PJ, et al. Circulation. 2006 Feb 14;113(6):783-90. doi: 10.1161/CIRCULATIONAHA.105.592899. Epub 2006 Feb 6. Circulation. 2006. PMID: 16461811

2

Jervell and Lange-Nielsen syndrome: a Norwegian perspective.

Tranebjaerg L, Bathen J, Tyson J, Bitner-Glindzicz M. Tranebjaerg L, et al. Am J Med Genet. 1999 Sep 24;89(3):137-46. Am J Med Genet. 1999. PMID: 10704188 Review.

3

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

4

Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.

Tyson J, Tranebjaerg L, McEntagart M, Larsen LA, Christiansen M, Whiteford ML, Bathen J, Aslaksen B, Sørland SJ, Lund O, Pembrey ME, Malcolm S, Bitner-Glindzicz M. Tyson J, et al. Hum Genet. 2000 Nov;107(5):499-503. doi: 10.1007/s004390000402. Hum Genet. 2000. PMID: 11140949

5

Splice mutations in KVLQT1?

Tyson J, Malcolm S, Bitner-Glindzicz M. Tyson J, et al. Circulation. 1999 May 11;99(18):2476-7. Circulation. 1999. PMID: 10318740 No abstract available.

6

A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.

Huang L, Bitner-Glindzicz M, Tranebjaerg L, Tinker A. Huang L, et al. Cardiovasc Res. 2001 Sep;51(4):670-80. doi: 10.1016/s0008-6363(01)00350-9. Cardiovasc Res. 2001. PMID: 11530100

7

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

8

The Jervell and Lange-Nielsen syndrome.

Bitner-Glindzicz M, Tranebjaerg L. Bitner-Glindzicz M, et al. Adv Otorhinolaryngol. 2000;56:45-52. doi: 10.1159/000059080. Adv Otorhinolaryngol. 2000. PMID: 10868213 Review. No abstract available.

9

Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome.

Kelberman D, Tyson J, Chandler DC, McInerney AM, Slee J, Albert D, Aymat A, Botma M, Calvert M, Goldblatt J, Haan EA, Laing NG, Lim J, Malcolm S, Singer SL, Winter RM, Bitner-Glindzicz M. Kelberman D, et al. Hum Genet. 2001 Dec;109(6):638-45. doi: 10.1007/s00439-001-0626-x. Epub 2001 Oct 26. Hum Genet. 2001. PMID: 11810276

10

Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.

Bitner-Glindzicz M, de Kok Y, Summers D, Huber I, Cremers FP, Ropers HH, Reardon W, Pembrey ME, Malcolm S. Bitner-Glindzicz M, et al. J Med Genet. 1994 Dec;31(12):916-21. doi: 10.1136/jmg.31.12.916. J Med Genet. 1994. PMID: 7891371 Free PMC article.

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