Trofatter JA - Search Results

1

In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.

Kleindorfer DO, Dlouhy SR, Pratt VM, Jones MC, Trofatter JA, Hodes ME. Kleindorfer DO, et al. Among authors: trofatter ja. Am J Med Genet. 1995 Feb 13;55(4):405-7. doi: 10.1002/ajmg.1320550404. Am J Med Genet. 1995. PMID: 7539213

2

A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.

Pratt VM, Trofatter JA, Schinzel A, Dlouhy SR, Conneally PM, Hodes ME. Pratt VM, et al. Among authors: trofatter ja. Am J Med Genet. 1991 Jan;38(1):136-9. doi: 10.1002/ajmg.1320380129. Am J Med Genet. 1991. PMID: 1707231

3

AhaII polymorphism in human X-linked proteolipid protein gene (PLP).

Trofatter JA, Pratt VM, Dlouhy SR, Hodes ME. Trofatter JA, et al. Nucleic Acids Res. 1991 Nov 11;19(21):6057. doi: 10.1093/nar/19.21.6057-a. Nucleic Acids Res. 1991. PMID: 1719490 Free PMC article.

4

Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant.

Trofatter JA, Dlouhy SR, DeMyer W, Conneally PM, Hodes ME. Trofatter JA, et al. Proc Natl Acad Sci U S A. 1989 Dec;86(23):9427-30. doi: 10.1073/pnas.86.23.9427. Proc Natl Acad Sci U S A. 1989. PMID: 2480601 Free PMC article.

5

Localization of the gene for X-linked nephrogenic diabetes insipidus to Xq28.

Kambouris M, Dlouhy SR, Trofatter JA, Conneally PM, Hodes ME. Kambouris M, et al. Among authors: trofatter ja. Am J Med Genet. 1988 Jan;29(1):239-46. doi: 10.1002/ajmg.1320290138. Am J Med Genet. 1988. PMID: 2894172

6

New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease.

Pratt VM, Trofatter JA, Larsen MB, Hodes ME, Dlouhy SR. Pratt VM, et al. Among authors: trofatter ja. Am J Med Genet. 1992 Jun 1;43(3):642-6. doi: 10.1002/ajmg.1320430335. Am J Med Genet. 1992. PMID: 1376553

7

Denaturing gradient gel analysis of single-base substitutions at a mouse adenine phosphoribosyltransferase splice acceptor site.

Dlouhy SR, Schaff DA, Trofatter JA, Liu HS, Stambrook PJ, Tischfield JA. Dlouhy SR, et al. Among authors: trofatter ja. Mol Carcinog. 1989;2(4):217-25. doi: 10.1002/mc.2940020408. Mol Carcinog. 1989. PMID: 2803521

8

Suicide risk in Huntington's disease.

Di Maio L, Squitieri F, Napolitano G, Campanella G, Trofatter JA, Conneally PM. Di Maio L, et al. Among authors: trofatter ja. J Med Genet. 1993 Apr;30(4):293-5. doi: 10.1136/jmg.30.4.293. J Med Genet. 1993. PMID: 8487273 Free PMC article.

9

Onset symptoms in 510 patients with Huntington's disease.

Di Maio L, Squitieri F, Napolitano G, Campanella G, Trofatter JA, Conneally PM. Di Maio L, et al. Among authors: trofatter ja. J Med Genet. 1993 Apr;30(4):289-92. doi: 10.1136/jmg.30.4.289. J Med Genet. 1993. PMID: 8487272 Free PMC article.

10

Mutational analysis of patients with neurofibromatosis 2.

MacCollin M, Ramesh V, Jacoby LB, Louis DN, Rubio MP, Pulaski K, Trofatter JA, Short MP, Bove C, Eldridge R, et al. MacCollin M, et al. Among authors: trofatter ja. Am J Hum Genet. 1994 Aug;55(2):314-20. Am J Hum Genet. 1994. PMID: 7913580 Free PMC article.

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