Similar articles for PMID: 1415347

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1

Clinical variability and genetic heterogeneity within the Acadian Usher population.

Smith RJ, Pelias MZ, Daiger SP, Keats B, Kimberling W, Hejtmancik JF. Smith RJ, et al. Am J Med Genet. 1992 Aug 1;43(6):964-9. doi: 10.1002/ajmg.1320430612. Am J Med Genet. 1992. PMID: 1415347

2

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. Cytogenet Cell Genet. 1989;50(2-3):102-6. doi: 10.1159/000132733. Cytogenet Cell Genet. 1989. PMID: 2776474

3

Localization of two genes for Usher syndrome type I to chromosome 11.

Smith RJ, Lee EC, Kimberling WJ, Daiger SP, Pelias MZ, Keats BJ, Jay M, Bird A, Reardon W, Guest M, et al. Smith RJ, et al. Genomics. 1992 Dec;14(4):995-1002. doi: 10.1016/s0888-7543(05)80122-3. Genomics. 1992. PMID: 1478678

4

The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population.

Savas S, Frischhertz B, Pelias MZ, Batzer MA, Deininger PL, Keats BB. Savas S, et al. Hum Genet. 2002 Jan;110(1):95-7. doi: 10.1007/s00439-001-0653-7. Epub 2001 Dec 6. Hum Genet. 2002. PMID: 11810303

5

Localization of Usher syndrome type II to chromosome 1q.

Kimberling WJ, Weston MD, Möller C, Davenport SL, Shugart YY, Priluck IA, Martini A, Milani M, Smith RJ. Kimberling WJ, et al. Genomics. 1990 Jun;7(2):245-9. doi: 10.1016/0888-7543(90)90546-7. Genomics. 1990. PMID: 2347588

6

Two families from New England with usher syndrome type IC with distinct haplotypes.

DeAngelis MM, McGee TL, Keats BJ, Slim R, Berson EL, Dryja TP. DeAngelis MM, et al. Am J Ophthalmol. 2001 Mar;131(3):355-8. doi: 10.1016/s0002-9394(00)00807-2. Am J Ophthalmol. 2001. PMID: 11239869

7

Linkage studies of Usher syndrome: analysis of an Acadian kindred in Louisiana.

Pelias MZ, Lemoine DR, Kossar AL, Ward LJ, Wilson AF, Elston RC. Pelias MZ, et al. Cytogenet Cell Genet. 1988;47(1-2):111-2. doi: 10.1159/000132524. Cytogenet Cell Genet. 1988. PMID: 3162715 No abstract available.

8

Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome.

Medina G, Perry J, Oza A, Kenna M. Medina G, et al. Cold Spring Harb Mol Case Stud. 2021 Aug 2;7(4):a006088. doi: 10.1101/mcs.a006088. Print 2021 Aug. Cold Spring Harb Mol Case Stud. 2021. PMID: 34021019 Free PMC article.

9

Fine mapping of the usher syndrome type IC to chromosome 11p14 and identification of flanking markers by haplotype analysis.

Ayyagari R, Li Y, Smith RJ, Pelias MZ, Hejtmancik JF. Ayyagari R, et al. Mol Vis. 1995 Oct 25;1:2. Mol Vis. 1995. PMID: 9238080 Free article.

10

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.

Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U. Reiners J, et al. Exp Eye Res. 2006 Jul;83(1):97-119. doi: 10.1016/j.exer.2005.11.010. Epub 2006 Mar 20. Exp Eye Res. 2006. PMID: 16545802 Review.

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