Sedra MS - Search Results

1

Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis.

Prior TW, Papp AC, Snyder PJ, Burghes AH, Sedra MS, Western LM, Bartolo C, Mendell JR. Prior TW, et al. Among authors: sedra ms. Hum Mutat. 1993;2(3):192-5. doi: 10.1002/humu.1380020307. Hum Mutat. 1993. PMID: 8364587

2

Rapid DNA haplotyping using a multiplex heteroduplex approach: application to Duchenne muscular dystrophy carrier testing.

Prior TW, Wenger GD, Papp AC, Snyder PJ, Sedra MS, Bartolo C, Moore JW, Highsmith WE. Prior TW, et al. Among authors: sedra ms. Hum Mutat. 1995;5(3):263-8. doi: 10.1002/humu.1380050312. Hum Mutat. 1995. PMID: 7599638

3

Spectrum of small mutations in the dystrophin coding region.

Prior TW, Bartolo C, Pearl DK, Papp AC, Snyder PJ, Sedra MS, Burghes AH, Mendell JR. Prior TW, et al. Among authors: sedra ms. Am J Hum Genet. 1995 Jul;57(1):22-33. Am J Hum Genet. 1995. PMID: 7611292 Free PMC article.

4

Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16.

Prior TW, Bartolo C, Papp AC, Snyder PJ, Sedra MS, Burghes AH, Mendell JR. Prior TW, et al. Among authors: sedra ms. Hum Mol Genet. 1994 Jul;3(7):1173-4. doi: 10.1093/hmg/3.7.1173. Hum Mol Genet. 1994. PMID: 7981690 No abstract available.

5

Detection of an exon 53 polymorphism in the dystrophin gene.

Prior TW, Papp AC, Snyder PJ, Sedra MS. Prior TW, et al. Among authors: sedra ms. Hum Genet. 1993 Oct 1;92(3):302-4. doi: 10.1007/BF00244477. Hum Genet. 1993. PMID: 8104863

6

Heteroduplex analysis of the dystrophin gene: application to point mutation and carrier detection.

Prior TW, Papp AC, Snyder PJ, Sedra MS, Western LM, Bartolo C, Moxley RT, Mendell JR. Prior TW, et al. Among authors: sedra ms. Am J Med Genet. 1994 Mar 1;50(1):68-73. doi: 10.1002/ajmg.1320500115. Am J Med Genet. 1994. PMID: 8160755

7

A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.

Prior TW, Papp AC, Snyder PJ, Burghes AH, Bartolo C, Sedra MS, Western LM, Mendell JR. Prior TW, et al. Among authors: sedra ms. Nat Genet. 1993 Aug;4(4):357-60. doi: 10.1038/ng0893-357. Nat Genet. 1993. PMID: 8401582

8

Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation.

Prior TW, Papp AC, Snyder PJ, Burghes AH, Sedra MS, Western LM, Bartello C, Mendell JR. Prior TW, et al. Among authors: sedra ms. Hum Mol Genet. 1993 Mar;2(3):311-3. doi: 10.1093/hmg/2.3.311. Hum Mol Genet. 1993. PMID: 8499922

9

Nonsense mutations in a Becker muscular dystrophy and an intermediate patient.

Prior TW, Bartolo C, Papp AC, Snyder PJ, Sedra MS, Burghes AH, Mendell JR. Prior TW, et al. Among authors: sedra ms. Hum Mutat. 1996;7(1):72-5. doi: 10.1002/(SICI)1098-1004(1996)7:1<72::AID-HUMU13>3.0.CO;2-P. Hum Mutat. 1996. PMID: 8664908 No abstract available.

10

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

Bartolo C, Papp AC, Snyder PJ, Sedra MS, Burghes AH, Hall CD, Mendell JR, Prior TW. Bartolo C, et al. Among authors: sedra ms. J Med Genet. 1996 Apr;33(4):324-7. doi: 10.1136/jmg.33.4.324. J Med Genet. 1996. PMID: 8730289 Free PMC article.

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