Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes

Por RICKARD, S., BOXER, M., TROMPETER, R., BITNER-GLINDZICZ, M.
Publicado em 2000

Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment

Por Hutchin, T, Thompson, K, Parker, M, Newton, V, Bitner-Glindzicz, M, Mueller, R
Publicado em 2001

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

Por Rickard, S., Kelsell, D., Sirimana, T., Rajput, K., MacArdle, B., Bitner-Glindzicz, M.
Publicado em 2001

Genetic analysis of the connexin-26 M34T variant

Por Griffith, A., Kelsell, D., Houseman, M., Reardon, W., Bitner-Glindzicz, M., Mueller, R.
Publicado em 2001

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

Por Bitner-Glindzicz, M, de Kok, Y, Summers, D, Huber, I, Cremers, F P, Ropers, H H, Reardon, W, Pembrey, M E, Malcolm, S
Publicado em 1994

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss

Por Houseman, M., Ellis, L., Pagnamenta, A., Di, W., Rickard, S., Osborn, A., Dahl, H., Taylor, G., Bitner-Glindzicz, M., Reardon, W., Mueller, R., Kelsell, D.
Publicado em 2001