Sedra MS - Search Results

1

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

Mailman MD, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Wirth B, Burghes AH, Prior TW. Mailman MD, et al. Among authors: sedra ms. Genet Med. 2002 Jan-Feb;4(1):20-6. doi: 10.1097/00125817-200201000-00004. Genet Med. 2002. PMID: 11839954 Free article.

2

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.

3

Germline mosaicism at the fragile X locus.

Prior TW, Papp AC, Snyder PJ, Sedra MS, Guida M, Enrile BG. Prior TW, et al. Among authors: sedra ms. Am J Med Genet. 1995 Jan 30;55(3):384-6. doi: 10.1002/ajmg.1320550327. Am J Med Genet. 1995. PMID: 7726241

4

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

5

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.

6

Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome.

Mailman MD, Hemingway T, Darsey RL, Glasure CE, Huang Y, Chadwick RB, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Schafer RW, Abuelo DN, Reich EW, Theil KS, Burghes AH, de la Chapelle A, Prior TW. Mailman MD, et al. Among authors: sedra ms. Hum Genet. 2001 Feb;108(2):109-15. doi: 10.1007/s004390000446. Hum Genet. 2001. PMID: 11281448

7

Southern transfer protocol for confirmation of Huntington disease.

Guida M, Fenwick RG, Papp AC, Snyder PJ, Sedra M, Prior TW. Guida M, et al. Clin Chem. 1996 Oct;42(10):1711-2. Clin Chem. 1996. PMID: 8855159 No abstract available.

8

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

9

A molecular protocol for diagnosing myotonic dystrophy.

Guida M, Marger RS, Papp AC, Snyder PJ, Sedra MS, Kissel JT, Mendell JR, Prior TW. Guida M, et al. Among authors: sedra ms. Clin Chem. 1995 Jan;41(1):69-72. Clin Chem. 1995. PMID: 7813083

10

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.

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