The continuing failure to recognise Alström syndrome and further evidence of genetic homogeneity

Por DEEBLE, V. J., ROBERTS, E., JACKSON, A., LENCH, N., KARBANI, G., WOODS, C. G.
Publicado em 2000

Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.

Por Shaw, N J, Haigh, D, Lealmann, G T, Karbani, G, Brocklebank, J T, Dillon, M J
Publicado em 1991

Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

Por Woods, C. G., Stricker, S., Seemann, P., Stern, R., Cox, J., Sherridan, E., Roberts, E., Springell, K., Scott, S., Karbani, G., Sharif, S. M., Toomes, C., Bond, J., Kumar, D., Al-Gazali, L., Mundlos, S.
Publicado em 2006

The molecular landscape of ASPM mutations in primary microcephaly

Por Nicholas, A K, Swanson, E A, Cox, J J, Karbani, G, Malik, S, Springell, K, Hampshire, D, Ahmed, M, Bond, J, Di Benedetto, D, Fichera, M, Romano, C, Dobyns, W B, Woods, C G
Publicado em 2009

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.

Por Jackson, A P, McHale, D P, Campbell, D A, Jafri, H, Rashid, Y, Mannan, J, Karbani, G, Corry, P, Levene, M I, Mueller, R F, Markham, A F, Lench, N J, Woods, C G
Publicado em 1998

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.

Por Campbell, D A, McHale, D P, Brown, K A, Moynihan, L M, Houseman, M, Karbani, G, Parry, G, Janjua, A H, Newton, V, al-Gazali, L, Markham, A F, Lench, N J, Mueller, R F
Publicado em 1997

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

Por Bond, J, Flintoff, K, Higgins, J, Scott, S, Bennet, C, Parsons, J, Mannon, J, Jafri, H, Rashid, Y, Barrow, M, Trembath, R, Woodruff, G, Rossa, E, Lynch, S, Sheilds, J, Newbury-Ecob, R, Falconer, A, Holland, P, Cockburn, D, Karbani, G, Malik, S, Ahmed, M, Roberts, E, Taylor, G, Woods, C
Publicado em 2005

Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus (AGS1) on Chromosome 3p21

Por Crow, Y. J., Jackson, A. P., Roberts, E., van Beusekom, E., Barth, P., Corry, P., Ferrie, C. D., Hamel, B. C. J., Jayatunga, R., Karbani, G., Kálmánchey, R., Kelemen, A., King, M., Kumar, R., Livingstone, J., Massey, R., McWilliam, R., Meager, A., Rittey, C., Stephenson, J. B. P., Tolmie, J. L., Verrips, A., Voit, T., van Bokhoven, H., Brunner, H. G., Woods, C. G.
Publicado em 2000