Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.

Por Viljoen, D, Ramesar, R
Publicado em 1992

Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.

Por Ramesar, R S, Greenberg, J, Martin, R, Goliath, R, Bardien, S, Mundlos, S, Beighton, P
Publicado em 1996

Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1.

Por Sher, C, Ramesar, R, Martell, R, Learmonth, I, Tsipouras, P, Beighton, P
Publicado em 1991

Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.

Por Spritz, R A, Holmes, S A, Ramesar, R, Greenberg, J, Curtis, D, Beighton, P
Publicado em 1992

Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint maps to an 11-cM region on chromosome 4q35.

Por Roby, P, Eyre, S, Worthington, J, Ramesar, R, Cilliers, H, Beighton, P, Grant, M, Wallis, G
Publicado em 1999

Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene

Por Eyre, S, Roby, P, Wolstencroft, K, Spreckley, K, Aspinwall, R, Bayoumi, R, Al-Gazali, L, Ramesar, R, Beighton, P, Wallis, G
Publicado em 2002

Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene

Por Eyre, S, Roby, P, Wolstencroft, K, Spreckley, K, Aspinwall, R, Bayoumi, R, Al-Gazali, L, Ramesar, R, Beighton, P, Gleghorn, L, Wallis, G
Publicado em 2005

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats.

Por Bassi, M T, Ramesar, R S, Caciotti, B, Winship, I M, De Grandi, A, Riboni, M, Townes, P L, Beighton, P, Ballabio, A, Borsani, G
Publicado em 1999

Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa

Por Weston, M. D., Eudy, J. D., Fujita, S., Yao, S.-F., Usami, S., Cremers, C., Greenburg, J., Ramesar, R., Martini, A., Moller, C., Smith, R. J., Sumegi, J., Kimberling, William J.
Publicado em 2000

Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.

Por Gong, Y., Vikkula, M., Boon, L., Liu, J., Beighton, P., Ramesar, R., Peltonen, L., Somer, H., Hirose, T., Dallapiccola, B., De Paepe, A., Swoboda, W., Zabel, B., Superti-Furga, A., Steinmann, B., Brunner, H. G., Jans, A., Boles, R. G., Adkins, W., van den Boogaard, M. J., Olsen, B. R., Warman, M. L.
Publicado em 1996

Strengthening human genetics research in Africa: report of the 9th meeting of the African Society of Human Genetics in Dakar in May 2016

Por Ndiaye Diallo, R., Gadji, M., Hennig, B. J., Guèye, M. V., Gaye, A., Diop, J. P. D., Sylla Niang, M., Lopez Sall, P., Guèye, P. M., Dem, A., Faye, O., Dieye, A., Cisse, A., Sembene, M., Ka, S., Diop, N., Williams, S. M., Matovu, E., Ramesar, R.S., Wonkam, A., Newport, M., Rotimi, C., Ramsay, M.
Publicado no Glob Health Epidemiol Genom (2017)

CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

Por Astuto, L. M., Bork, J. M., Weston, M. D., Askew, J. W., Fields, R. R., Orten, D. J., Ohliger, S. J., Riazuddin, S., Morell, R. J., Khan, S., Riazuddin, S., Kremer, H., van Hauwe, P., Moller, C. G., Cremers, C. W. R. J., Ayuso, C., Heckenlively, J. R., Rohrschneider, K., Spandau, U., Greenberg, J., Ramesar, R., Reardon, W., Bitoun, P., Millan, J., Legge, R., Friedman, T. B., Kimberling, W. J.
Publicado em 2002