Abernathy CR - Search Results

1

Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.

Krkljus S, Abernathy CR, Johnson JS, Williams CA, Driscoll DJ, Zori R, Stalker HJ, Rasmussen SA, Collins FS, Kousseff BG, Baumbach L, Wallace MR. Krkljus S, et al. Among authors: abernathy cr. Hum Mutat. 1998;11(5):411. doi: 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU11>3.0.CO;2-2. Hum Mutat. 1998. PMID: 10336779

2

Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene.

Abernathy CR, Colman SD, Kousseff BG, Wallace MR. Abernathy CR, et al. Hum Mutat. 1994;3(4):347-52. doi: 10.1002/humu.1380030404. Hum Mutat. 1994. PMID: 8081387

3

Somatic mosaicism in a patient with neurofibromatosis type 1.

Colman SD, Rasmussen SA, Ho VT, Abernathy CR, Wallace MR. Colman SD, et al. Among authors: abernathy cr. Am J Hum Genet. 1996 Mar;58(3):484-90. Am J Hum Genet. 1996. PMID: 8644707 Free PMC article.

4

NF1 mutation analysis using a combined heteroduplex/SSCP approach.

Abernathy CR, Rasmussen SA, Stalker HJ, Zori R, Driscoll DJ, Williams CA, Kousseff BG, Wallace MR. Abernathy CR, et al. Hum Mutat. 1997;9(6):548-54. doi: 10.1002/(SICI)1098-1004(1997)9:6<548::AID-HUMU8>3.0.CO;2-Y. Hum Mutat. 1997. PMID: 9195229

5

Four frameshift mutations in neurofibromatosis type 1 caused by small insertions.

Colman SD, Abernathy CR, Ho VT, Wallace MR. Colman SD, et al. Among authors: abernathy cr. J Med Genet. 1997 Jul;34(7):579-81. doi: 10.1136/jmg.34.7.579. J Med Genet. 1997. PMID: 9222967 Free PMC article.

6

A multiplex-PCR test for EVI2A and EVI2B polymorphisms within the human NF1 gene.

Rasmussen SA, Ho VT, Colman SD, Abernathy CR, Wallace MR. Rasmussen SA, et al. Among authors: abernathy cr. Mamm Genome. 1996 Mar;7(3):233-4. doi: 10.1007/s003359900065. Mamm Genome. 1996. PMID: 8833251 No abstract available.

7

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

Rasmussen SA, Colman SD, Ho VT, Abernathy CR, Arn PH, Weiss L, Schwartz C, Saul RA, Wallace MR. Rasmussen SA, et al. Among authors: abernathy cr. J Med Genet. 1998 Jun;35(6):468-71. doi: 10.1136/jmg.35.6.468. J Med Genet. 1998. PMID: 9643287 Free PMC article.

8

Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1.

Rasmussen SA, Overman J, Thomson SA, Colman SD, Abernathy CR, Trimpert RE, Moose R, Virdi G, Roux K, Bauer M, Rojiani AM, Maria BL, Muir D, Wallace MR. Rasmussen SA, et al. Among authors: abernathy cr. Genes Chromosomes Cancer. 2000 Aug;28(4):425-31. Genes Chromosomes Cancer. 2000. PMID: 10862051

9

A PCR-based test for a polymorphism within the human NF1 gene.

Abernathy C, Colman SD, Wallace MR. Abernathy C, et al. Clin Genet. 1994 Jun;45(6):313. doi: 10.1111/j.1399-0004.1994.tb04038.x. Clin Genet. 1994. PMID: 7923863 No abstract available.

10

Preclinical toxicology and biodistribution studies of recombinant adeno-associated virus 1 human acid α-glucosidase.

Conlon TJ, Erger K, Porvasnik S, Cossette T, Roberts C, Combee L, Islam S, Kelley J, Cloutier D, Clément N, Abernathy CR, Byrne BJ. Conlon TJ, et al. Among authors: abernathy cr. Hum Gene Ther Clin Dev. 2013 Sep;24(3):127-33. doi: 10.1089/humc.2013.147. Hum Gene Ther Clin Dev. 2013. PMID: 24021025 Free PMC article.

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