Stone EM - Search Results

1

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly.

Mykytyn K, Mullins RF, Andrews M, Chiang AP, Swiderski RE, Yang B, Braun T, Casavant T, Stone EM, Sheffield VC. Mykytyn K, et al. Among authors: stone em. Proc Natl Acad Sci U S A. 2004 Jun 8;101(23):8664-9. doi: 10.1073/pnas.0402354101. Epub 2004 Jun 1. Proc Natl Acad Sci U S A. 2004. PMID: 15173597 Free PMC article.

2

A simple and efficient method for attachment of a 40-base pair, GC-rich sequence to PCR-amplified DNA.

Sheffield VC, Beck JS, Stone EM, Myers RM. Sheffield VC, et al. Among authors: stone em. Biotechniques. 1992 Mar;12(3):386-8. Biotechniques. 1992. PMID: 1571147 No abstract available.

3

Novel approaches to linkage mapping.

Sheffield VC, Nishimura DY, Stone EM. Sheffield VC, et al. Among authors: stone em. Curr Opin Genet Dev. 1995 Jun;5(3):335-41. doi: 10.1016/0959-437x(95)80048-4. Curr Opin Genet Dev. 1995. PMID: 7549428 Review.

4

Night blindness in Sorsby's fundus dystrophy reversed by vitamin A.

Jacobson SG, Cideciyan AV, Regunath G, Rodriguez FJ, Vandenburgh K, Sheffield VC, Stone EM. Jacobson SG, et al. Among authors: stone em. Nat Genet. 1995 Sep;11(1):27-32. doi: 10.1038/ng0995-27. Nat Genet. 1995. PMID: 7550309

5

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.

Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC. Carmi R, et al. Among authors: stone em. Hum Mol Genet. 1995 Jan;4(1):9-13. doi: 10.1093/hmg/4.1.9. Hum Mol Genet. 1995. PMID: 7711739

6

Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop).

Lam BL, Vandenburgh K, Sheffield VC, Stone EM. Lam BL, et al. Among authors: stone em. Am J Ophthalmol. 1995 Jan;119(1):65-71. doi: 10.1016/s0002-9394(14)73815-2. Am J Ophthalmol. 1995. PMID: 7825692

7

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.

Sheffield VC, Carmi R, Kwitek-Black A, Rokhlina T, Nishimura D, Duyk GM, Elbedour K, Sunden SL, Stone EM. Sheffield VC, et al. Among authors: stone em. Hum Mol Genet. 1994 Aug;3(8):1331-5. doi: 10.1093/hmg/3.8.1331. Hum Mol Genet. 1994. PMID: 7987310

8

Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

Fishman GA, Stone E, Gilbert LD, Vandenburgh K, Sheffield VC, Heckenlively JR. Fishman GA, et al. Ophthalmology. 1994 Aug;101(8):1409-21. doi: 10.1016/s0161-6420(94)31156-0. Ophthalmology. 1994. PMID: 8058286

9

A user-friendly Hypercard interface for human linkage analysis.

Nichols BE, Sheffield VC, Stone EM. Nichols BE, et al. Among authors: stone em. Comput Appl Biosci. 1993 Dec;9(6):757-9. doi: 10.1093/bioinformatics/9.6.757. Comput Appl Biosci. 1993. PMID: 8143163

10

Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene.

Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM. Weleber RG, et al. Among authors: stone em. Arch Ophthalmol. 1993 Nov;111(11):1531-42. doi: 10.1001/archopht.1993.01090110097033. Arch Ophthalmol. 1993. PMID: 8240110

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

622 results

Search Page

Filters