Sumegi J - Search Results

1

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ. Weston MD, et al. Among authors: sumegi j. Am J Hum Genet. 2000 Apr;66(4):1199-210. doi: 10.1086/302855. Epub 2000 Mar 22. Am J Hum Genet. 2000. PMID: 10729113 Free PMC article.

2

Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.

Fields RR, Zhou G, Huang D, Davis JR, Möller C, Jacobson SG, Kimberling WJ, Sumegi J. Fields RR, et al. Among authors: sumegi j. Am J Hum Genet. 2002 Sep;71(3):607-17. doi: 10.1086/342098. Epub 2002 Jul 16. Am J Hum Genet. 2002. PMID: 12145752 Free PMC article.

3

Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease.

Huang D, Eudy JD, Uzvolgyi E, Davis JR, Talmadge CB, Pretto D, Weston MD, Lehman JE, Zhou M, Seemayer TA, Ahmad I, Kimberling WJ, Sumegi J. Huang D, et al. Among authors: sumegi j. Genomics. 2002 Aug;80(2):195-203. doi: 10.1006/geno.2002.6823. Genomics. 2002. PMID: 12160733

4

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB, Kimberling WJ. Weston MD, et al. Among authors: sumegi j. Am J Hum Genet. 1996 Nov;59(5):1074-83. Am J Hum Genet. 1996. PMID: 8900236 Free PMC article.

5

The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A).

Kelley PM, Weston MD, Chen ZY, Orten DJ, Hasson T, Overbeck LD, Pinnt J, Talmadge CB, Ing P, Mooseker MS, Corey D, Sumegi J, Kimberling WJ. Kelley PM, et al. Among authors: sumegi j. Genomics. 1997 Feb 15;40(1):73-9. doi: 10.1006/geno.1996.4545. Genomics. 1997. PMID: 9070921 Free article.

6

Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32.

Eudy JD, Ma-Edmonds M, Yao SF, Talmadge CB, Kelley PM, Weston MD, Kimberling WJ, Sumegi J. Eudy JD, et al. Among authors: sumegi j. Genomics. 1997 Jul 1;43(1):104-6. doi: 10.1006/geno.1997.4779. Genomics. 1997. PMID: 9226380

7

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge CB, Beisel KW, Tamayo M, Morton CC, Swaroop A, Kimberling WJ, Sumegi J. Eudy JD, et al. Among authors: sumegi j. Science. 1998 Jun 12;280(5370):1753-7. doi: 10.1126/science.280.5370.1753. Science. 1998. PMID: 9624053

8

Molecular genetics of Usher syndrome.

Eudy JD, Sumegi J. Eudy JD, et al. Among authors: sumegi j. Cell Mol Life Sci. 1999 Oct 15;56(3-4):258-67. doi: 10.1007/s000180050427. Cell Mol Life Sci. 1999. PMID: 11212353 Free PMC article. Review.

9

Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41.

Kimberling WJ, Weston MD, Möller C, van Aarem A, Cremers CW, Sumegi J, Ing PS, Connolly C, Martini A, Milani M, et al. Kimberling WJ, et al. Among authors: sumegi j. Am J Hum Genet. 1995 Jan;56(1):216-23. Am J Hum Genet. 1995. PMID: 7825581 Free PMC article.

10

Dinucleotide repeat polymorphism in the TGFB2 gene.

Weston MD, Zhen DK, Sumegi J, Kimberling WJ. Weston MD, et al. Among authors: sumegi j. Hum Mol Genet. 1994 Jul;3(7):1211. Hum Mol Genet. 1994. PMID: 7981711 No abstract available.

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