Papp AC - 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: papp ac. 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: papp ac. 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: papp ac. 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: papp ac. 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 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: papp ac. Nat Genet. 1993 Aug;4(4):357-60. doi: 10.1038/ng0893-357. Nat Genet. 1993. PMID: 8401582

6

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: papp ac. 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.

7

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: papp ac. Hum Genet. 2001 Feb;108(2):109-15. doi: 10.1007/s004390000446. Hum Genet. 2001. PMID: 11281448

8

Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy.

Winnard AV, Klein CJ, Coovert DD, Prior T, Papp A, Snyder P, Bulman DE, Ray PN, McAndrew P, King W, et al. Winnard AV, et al. Hum Mol Genet. 1993 Jun;2(6):737-44. doi: 10.1093/hmg/2.6.737. Hum Mol Genet. 1993. PMID: 8353493

9

Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene.

Amato AA, Prior TW, Barohn RJ, Snyder P, Papp A, Mendell JR. Amato AA, et al. Neurology. 1993 Apr;43(4):791-4. doi: 10.1212/wnl.43.4.791. Neurology. 1993. PMID: 8469342

10

Case of the month: germline mosaicism in carriers of Duchenne muscular dystrophy.

Prior TW, Papp AC, Snyder PJ, Mendell JR. Prior TW, et al. Among authors: papp ac. Muscle Nerve. 1992 Aug;15(8):960-3. doi: 10.1002/mus.880150815. Muscle Nerve. 1992. PMID: 1353862

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