Spectrum of small mutations in the dystrophin coding region
PRIOR, T. W, BARTOLO, C, PEARL, D. K, PAPP, A. C, SNYDER, P. J, SEDRA, M. S, BURGHES, A. H. M, MENDELL, J. R
Published in American journal of human genetics (01.07.1995)
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Published in American journal of human genetics (01.07.1995)
Journal Article
Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome
MAILMAN, Matthew D, HEMINGWAY, Tamara, SCHAFER, Robert W, ABUELO, Dianne N, REICH, Elsa W, THEIL, Karl S, BURGHES, Arthur H. M, DE LA CHAPELLE, Albert, PRIOR, Thomas W, DARSEY, Rebecca L, GLASURE, Carol E, YING HUANG, CHADWICK, Robert B, HEINZ, John W, PAPP, Audrey C, SNYDER, Pamela J, SEDRA, Mary S
Published in Human genetics (01.02.2001)
Published in Human genetics (01.02.2001)
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Journal Article
Dystrophin expression in a Duchenne muscular dystrophy patient with a frame shift deletion
Prior, T W, Bartolo, C, Papp, A C, Snyder, P J, Sedra, M S, Burghes, A H, Kissel, J T, Luquette, M H, Tsao, C Y, Mendell, J R
Published in Neurology (01.02.1997)
Published in Neurology (01.02.1997)
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Journal Article
Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation
Prior, T W, Papp, A C, Snyder, P J, Burghes, A H, Sedra, M S, Western, L M, Bartello, C, Mendell, J R
Published in Human molecular genetics (01.03.1993)
Published in Human molecular genetics (01.03.1993)
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Journal Article
A molecular protocol for diagnosing myotonic dystrophy
Guida, M, Marger, RS, Papp, AC, Snyder, PJ, Sedra, MS, Kissel, JT, Mendell, JR, Prior, TW
Published in Clinical chemistry (Baltimore, Md.) (01.01.1995)
Published in Clinical chemistry (Baltimore, Md.) (01.01.1995)
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Journal Article
Conference Proceeding
A novel splice site mutation in a Becker muscular dystrophy patient
Bartolo, C, Papp, A C, Snyder, P J, Sedra, M S, Burghes, A H, Hall, C D, Mendell, J R, Prior, T W
Published in Journal of medical genetics (01.04.1996)
Published in Journal of medical genetics (01.04.1996)
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Journal Article
Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16
Prior, T W, Bartolo, C, Papp, A C, Snyder, P J, Sedra, M S, Burghes, A H, Mendell, J R
Published in Human molecular genetics (01.07.1994)
Published in Human molecular genetics (01.07.1994)
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Journal Article
Germline mosaicism at the fragile X locus
Prior, T W, Papp, A C, Snyder, P J, Sedra, M S, Guida, M, Enrile, B G
Published in American journal of medical genetics (30.01.1995)
Published in American journal of medical genetics (30.01.1995)
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Journal Article
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
Mailman, Matthew D., Heinz, John W., Papp, Audrey C., Snyder, Pamela J., Sedra, Mary S., Wirth, Brunhilde, Burghes, Arthur H.M., Prior, Thomas W.
Published in Genetics in medicine (01.01.2002)
Published in Genetics in medicine (01.01.2002)
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