Hejtmancik JF - Search Results

1

Mapping X-linked ophthalmic diseases. III. Provisional assignment of the locus for blue cone monochromacy to Xq28.

Lewis RA, Holcomb JD, Bromley WC, Wilson MC, Roderick TH, Hejtmancik JF. Lewis RA, et al. Among authors: hejtmancik jf. Arch Ophthalmol. 1987 Aug;105(8):1055-9. doi: 10.1001/archopht.1987.01060080057028. Arch Ophthalmol. 1987. PMID: 2888453

2

Molecular genetics of human blue cone monochromacy.

Nathans J, Davenport CM, Maumenee IH, Lewis RA, Hejtmancik JF, Litt M, Lovrien E, Weleber R, Bachynski B, Zwas F, et al. Nathans J, et al. Among authors: hejtmancik jf. Science. 1989 Aug 25;245(4920):831-8. doi: 10.1126/science.2788922. Science. 1989. PMID: 2788922

3

Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium.

Keats BJ, Todorov AA, Atwood LD, Pelias MZ, Hejtmancik JF, Kimberling WJ, Leppert M, Lewis RA, Smith RJ. Keats BJ, et al. Among authors: hejtmancik jf. Genomics. 1992 Nov;14(3):707-14. doi: 10.1016/s0888-7543(05)80172-7. Genomics. 1992. PMID: 1427898

4

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

5

In vitro amplification of the alpha 1-antitrypsin gene: application to prenatal diagnosis.

Hejtmancik JF, Holcomb JD, Howard J, Vanderford M. Hejtmancik JF, et al. Prenat Diagn. 1989 Mar;9(3):177-86. doi: 10.1002/pd.1970090306. Prenat Diagn. 1989. PMID: 2785265

6

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium.

Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Möller CG, Pelias MZ, Tranebjaerg L. Smith RJ, et al. Among authors: hejtmancik jf. Am J Med Genet. 1994 Mar 1;50(1):32-8. doi: 10.1002/ajmg.1320500107. Am J Med Genet. 1994. PMID: 8160750

7

Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.

Iqbal M, Naeem MA, Riazuddin SA, Ali S, Farooq T, Qazi ZA, Khan SN, Husnain T, Riazuddin S, Sieving PA, Hejtmancik JF, Riazuddin S. Iqbal M, et al. Among authors: hejtmancik jf. Arch Ophthalmol. 2011 Oct;129(10):1351-7. doi: 10.1001/archophthalmol.2011.267. Arch Ophthalmol. 2011. PMID: 21987678 Free PMC article.

8

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.

Boone PM, Yuan B, Gu S, Ma Z, Gambin T, Gonzaga-Jauregui C, Jain M, Murdock TJ, White JJ, Jhangiani SN, Walker K, Wang Q, Muzny DM, Gibbs RA, Hejtmancik JF, Lupski JR, Posey JE, Lewis RA. Boone PM, et al. Among authors: hejtmancik jf. Mol Genet Genomic Med. 2015 Nov 14;4(1):77-94. doi: 10.1002/mgg3.181. eCollection 2016 Jan. Mol Genet Genomic Med. 2015. PMID: 26788539 Free PMC article.

9

Ectopia lentis in a consanguineous pakistani family and a novel locus on chromosome 8q.

Kaul H, Riazuddin SA, Qazi ZA, Nasir IA, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S. Kaul H, et al. Among authors: hejtmancik jf. Arch Ophthalmol. 2010 Aug;128(8):1046-9. doi: 10.1001/archophthalmol.2010.165. Arch Ophthalmol. 2010. PMID: 20697006 Free PMC article.

10

Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1.

Zhang Q, Guo X, Xiao X, Jia X, Li S, Hejtmancik JF. Zhang Q, et al. Among authors: hejtmancik jf. J Med Genet. 2006 May;43(5):e20. doi: 10.1136/jmg.2005.037853. J Med Genet. 2006. PMID: 16648373 Free PMC article.

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