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

2

Determination of carrier status in Duchenne and Becker muscular dystrophies by quantitative polymerase chain reaction and allele-specific oligonucleotides.

Prior TW, Papp AC, Snyder PJ, Highsmith WE Jr, Friedman KJ, Perry TR, Silverman LM, Mendell JR. Prior TW, et al. Among authors: mendell jr. Clin Chem. 1990 Dec;36(12):2113-7. Clin Chem. 1990. PMID: 2253356

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

Myoblast transfer in the treatment of Duchenne's muscular dystrophy.

Mendell JR, Kissel JT, Amato AA, King W, Signore L, Prior TW, Sahenk Z, Benson S, McAndrew PE, Rice R, et al. Mendell JR, et al. N Engl J Med. 1995 Sep 28;333(13):832-8. doi: 10.1056/NEJM199509283331303. N Engl J Med. 1995. PMID: 7651473 Free article. Clinical Trial.

5

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.

6

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.

7

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: mendell jr. Am J Med Genet. 1994 Mar 1;50(1):68-73. doi: 10.1002/ajmg.1320500115. Am J Med Genet. 1994. PMID: 8160755

8

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

9

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

10

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.

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