Hejtmancik JF - Search Results

1

Uniparental disomy as a mechanism for human genetic disease.

Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL. Spence JE, et al. Among authors: hejtmancik jf. Am J Hum Genet. 1988 Feb;42(2):217-26. Am J Hum Genet. 1988. PMID: 2893543 Free PMC article.

2

Congenital 21-hydroxylase deficiency as a new deletion mutation. Detection in a proband during subsequent prenatal diagnosis by HLA typing and DNA analysis.

Hejtmancik JF, Black S, Harris S, Ward PA, Callaway C, Ledbetter D, Morris J, Leech SH, Pollack MS. Hejtmancik JF, et al. Hum Immunol. 1992 Dec;35(4):246-52. doi: 10.1016/0198-8859(92)90006-9. Hum Immunol. 1992. PMID: 1293088

3

Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26).

Huang TH, Hejtmancik JF, Edwards A, Pettigrew AL, Herrera CA, Hammond HA, Caskey CT, Zoghbi HY, Ledbetter DH. Huang TH, et al. Among authors: hejtmancik jf. Am J Hum Genet. 1991 Dec;49(6):1312-9. Am J Hum Genet. 1991. PMID: 1746558 Free PMC article.

4

Isolation of a human chromosome 14-only somatic cell hybrid: analysis using Alu and LINE-based PCR.

Mares A Jr, Ledbetter SA, Ledbetter DH, Roberts R, Hejtmancik JF. Mares A Jr, et al. Among authors: hejtmancik jf. Genomics. 1991 Sep;11(1):215-8. doi: 10.1016/0888-7543(91)90122-u. Genomics. 1991. PMID: 1765380

5

A trisomic child after in vitro fertilization: result of paternal nondisjunction.

Hejtmancik JF, Ledbetter DH, Beaudet AL, Quigley MM. Hejtmancik JF, et al. Fertil Steril. 1985 Dec;44(6):830-1. doi: 10.1016/s0015-0282(16)49046-1. Fertil Steril. 1985. PMID: 2416598 Free article. No abstract available.

6

Prenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis.

Ward PA, Hejtmancik JF, Witkowski JA, Baumbach LL, Gunnell S, Speer J, Hawley P, Tantravahi U, Caskey CT. Ward PA, et al. Among authors: hejtmancik jf. Am J Hum Genet. 1989 Feb;44(2):270-81. Am J Hum Genet. 1989. PMID: 2643315 Free PMC article.

7

Exclusion of Usher syndrome gene from much of chromosome 4.

Smith RJ, Holcomb JD, Daiger SP, Caskey CT, Pelias MZ, Alford BR, Fontenot DD, Hejtmancik JF. Smith RJ, et al. Among authors: hejtmancik jf. Cytogenet Cell Genet. 1989;50(2-3):102-6. doi: 10.1159/000132733. Cytogenet Cell Genet. 1989. PMID: 2776474

8

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.

Jiao X, Munier FL, Iwata F, Hayakawa M, Kanai A, Lee J, Schorderet DF, Chen MS, Kaiser-Kupfer M, Hejtmancik JF. Jiao X, et al. Among authors: hejtmancik jf. Am J Hum Genet. 2000 Nov;67(5):1309-13. doi: 10.1016/S0002-9297(07)62960-7. Epub 2000 Sep 21. Am J Hum Genet. 2000. PMID: 11001583 Free PMC article.

9

Diagnostic value of ophthalmologic findings in myotonic dystrophy: comparison with risks calculated by haplotype analysis of closely linked restriction fragment length polymorphisms.

Ashizawa T, Hejtmancik JF, Liu J, Perryman MB, Epstein HF, Koch DD. Ashizawa T, et al. Among authors: hejtmancik jf. Am J Med Genet. 1992 Jan 1;42(1):55-60. doi: 10.1002/ajmg.1320420113. Am J Med Genet. 1992. PMID: 1364051

10

In vitro translation of hypoxanthine/guanine phosphoribosyltransferase mRNA: characterization of a mouse neuroblastoma cell line that has elevated levels of hypoxanthine/guanine phosphoribosyltransferase protein.

Melton DW, Konecki DS, Ledbetter DH, Hejtmancik JF, Caskey CT. Melton DW, et al. Among authors: hejtmancik jf. Proc Natl Acad Sci U S A. 1981 Nov;78(11):6977-80. doi: 10.1073/pnas.78.11.6977. Proc Natl Acad Sci U S A. 1981. PMID: 6947270 Free PMC article.

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