When is a deletion not a deletion? When it is converted.

di Burghes, A H
Pubblicazione 1997

Erythrocyte-ghost Ca2+-stimulated Mg2+-dependent adenosine triphosphatase in Duchenne muscular dystrophy.

di Dunn, M J, Burghes, A H, Dubowitz, V
Pubblicazione 1982

Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production.

di Winnard, A V, Mendell, J R, Prior, T W, Florence, J, Burghes, A H
Pubblicazione 1995

Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene.

di Hu, X Y, Burghes, A H, Bulman, D E, Ray, P N, Worton, R G
Pubblicazione 1989

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

di Parsons, D W, McAndrew, P E, Iannaccone, S T, Mendell, J R, Burghes, A H, Prior, T W
Pubblicazione 1998

Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis.

di Parsons, D W, McAndrew, P E, Allinson, P S, Parker, W D, Burghes, A H, Prior, T W
Pubblicazione 1998

Partial gene duplication in Duchenne and Becker muscular dystrophies.

di Hu, X Y, Burghes, A H, Ray, P N, Thompson, M W, Murphy, E G, Worton, R G
Pubblicazione 1988

Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers.

di Klein, C J, Coovert, D D, Bulman, D E, Ray, P N, Mendell, J R, Burghes, A H
Pubblicazione 1992

A novel splice site mutation in a Becker muscular dystrophy patient.

di Bartolo, C, Papp, A C, Snyder, P J, Sedra, M S, Burghes, A H, Hall, C D, Mendell, J R, Prior, T W
Pubblicazione 1996

Spectrum of small mutations in the dystrophin coding region.

di Prior, T W, Bartolo, C, Pearl, D K, Papp, A C, Snyder, P J, Sedra, M S, Burghes, A H, Mendell, J R
Pubblicazione 1995

Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin.

di Matsumura, K, Burghes, A H, Mora, M, Tomé, F M, Morandi, L, Cornello, F, Leturcq, F, Jeanpierre, M, Kaplan, J C, Reinert, P
Pubblicazione 1994

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.

di McAndrew, P E, Parsons, D W, Simard, L R, Rochette, C, Ray, P N, Mendell, J R, Prior, T W, Burghes, A H
Pubblicazione 1997

Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the duchenne muscular dystrophy (DMD) gene

di Gillard, E. F., Chamberlain, J. S., Murphy, E. G., Duff, C. L., Smith, B., Burghes, A. H. M., Thompson, M. W., Sutherland, J., Oss, I., Bodrug, S. E., Klamut, H. J., Ray, P. N., Worton, R. G.
Pubblicazione 1989

DAX1 mutations map to putative structural domains in a deduced three-dimensional model.

di Zhang, Y H, Guo, W, Wagner, R L, Huang, B L, McCabe, L, Vilain, E, Burris, T P, Anyane-Yeboa, K, Burghes, A H, Chitayat, D, Chudley, A E, Genel, M, Gertner, J M, Klingensmith, G J, Levine, S N, Nakamoto, J, New, M I, Pagon, R A, Pappas, J G, Quigley, C A, Rosenthal, I M, Baxter, J D, Fletterick, R J, McCabe, E R
Pubblicazione 1998