Mendell JR - Search Results

1

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

Klein CJ, Coovert DD, Bulman DE, Ray PN, Mendell JR, Burghes AH. Klein CJ, et al. Among authors: mendell jr. Am J Hum Genet. 1992 May;50(5):950-9. Am J Hum Genet. 1992. PMID: 1570844 Free PMC article.

2

Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. CIDD Study Group.

Burrow KL, Coovert DD, Klein CJ, Bulman DE, Kissel JT, Rammohan KW, Burghes AH, Mendell JR. Burrow KL, et al. Among authors: mendell jr. Neurology. 1991 May;41(5):661-6. doi: 10.1212/wnl.41.5.661. Neurology. 1991. PMID: 1781820 Clinical Trial.

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: mendell jr. Am J Hum Genet. 1995 Jul;57(1):22-33. Am J Hum Genet. 1995. PMID: 7611292 Free PMC article.

4

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

Winnard AV, Mendell JR, Prior TW, Florence J, Burghes AH. Winnard AV, et al. Among authors: mendell jr. Am J Hum Genet. 1995 Jan;56(1):158-66. Am J Hum Genet. 1995. PMID: 7825572 Free PMC article.

5

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: mendell jr. 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.

6

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: mendell jr. Hum Mutat. 1993;2(3):192-5. doi: 10.1002/humu.1380020307. Hum Mutat. 1993. PMID: 8364587

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: mendell jr. 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: mendell jr. 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: mendell jr. 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: mendell jr. 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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