Trofatter JA - Search Results

1

A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy.

Delisle MB, Murrell JR, Richardson R, Trofatter JA, Rascol O, Soulages X, Mohr M, Calvas P, Ghetti B. Delisle MB, et al. Among authors: trofatter ja. Acta Neuropathol. 1999 Jul;98(1):62-77. doi: 10.1007/s004010051052. Acta Neuropathol. 1999. PMID: 10412802

2

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification.

Church DM, Stotler CJ, Rutter JL, Murrell JR, Trofatter JA, Buckler AJ. Church DM, et al. Among authors: trofatter ja. Nat Genet. 1994 Jan;6(1):98-105. doi: 10.1038/ng0194-98. Nat Genet. 1994. PMID: 8136842

3

An expression-independent catalog of genes from human chromosome 22.

Trofatter JA, Long KR, Murrell JR, Stotler CJ, Gusella JF, Buckler AJ. Trofatter JA, et al. Genome Res. 1995 Oct;5(3):214-24. doi: 10.1101/gr.5.3.214. Genome Res. 1995. PMID: 8593609 Free article.

4

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.

Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, Kley N, Menon AG, Pulaski K, et al. Trofatter JA, et al. Cell. 1993 Mar 12;72(5):791-800. doi: 10.1016/0092-8674(93)90406-g. Cell. 1993. PMID: 8453669

5

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.

Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, Kley N, Menon AG, Pulaski K, et al. Trofatter JA, et al. Cell. 1993 Nov 19;75(4):826. doi: 10.1016/0092-8674(93)90501-g. Cell. 1993. PMID: 8242753 No abstract available.

6

A 500-kilobase region containing the tuberous sclerosis locus (TSC1) in a 1.7-megabase YAC and cosmid contig.

Murrell J, Trofatter J, Rutter M, Cutone S, Stotler C, Rutter J, Long K, Turner A, Deaven L, Buckler A, et al. Murrell J, et al. Genomics. 1995 Jan 1;25(1):59-65. doi: 10.1016/0888-7543(95)80109-y. Genomics. 1995. PMID: 7774956

7

Exon scanning for mutation of the NF2 gene in schwannomas.

Jacoby LB, MacCollin M, Louis DN, Mohney T, Rubio MP, Pulaski K, Trofatter JA, Kley N, Seizinger B, Ramesh V, et al. Jacoby LB, et al. Among authors: trofatter ja. Hum Mol Genet. 1994 Mar;3(3):413-9. doi: 10.1093/hmg/3.3.413. Hum Mol Genet. 1994. PMID: 8012353

8

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.

Blumenfeld A, Slaugenhaupt SA, Axelrod FB, Lucente DE, Maayan C, Liebert CB, Ozelius LJ, Trofatter JA, Haines JL, Breakefield XO, et al. Blumenfeld A, et al. Among authors: trofatter ja. Nat Genet. 1993 Jun;4(2):160-4. doi: 10.1038/ng0693-160. Nat Genet. 1993. PMID: 8102296

9

Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16.

Yan W, Boustany RM, Konradi C, Ozelius L, Lerner T, Trofatter JA, Julier C, Breakefield XO, Gusella JF, Haines JL. Yan W, et al. Among authors: trofatter ja. Am J Hum Genet. 1993 Jan;52(1):89-95. Am J Hum Genet. 1993. PMID: 8434611 Free PMC article.

10

Dinucleotide repeat polymorphism at the debrisoquine 4-hydroxylase (CYP2D) locus.

Trofatter JA, Gusella JF, Haines JL. Trofatter JA, et al. Nucleic Acids Res. 1991 May 25;19(10):2802. doi: 10.1093/nar/19.10.2802-a. Nucleic Acids Res. 1991. PMID: 2041763 Free PMC article. No abstract available.

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