Sheffield VC - Search Results

1

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.

Stone EM, Lotery AJ, Munier FL, Héon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, Schorderet DF. Stone EM, et al. Among authors: sheffield vc. Nat Genet. 1999 Jun;22(2):199-202. doi: 10.1038/9722. Nat Genet. 1999. PMID: 10369267

2

Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.

Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC. Stone EM, et al. Among authors: sheffield vc. Nat Genet. 1992 Jul;1(4):246-50. doi: 10.1038/ng0792-246. Nat Genet. 1992. PMID: 1302019

3

Linkage of posterior polymorphous corneal dystrophy to 20q11.

Héon E, Mathers WD, Alward WL, Weisenthal RW, Sunden SL, Fishbaugh JA, Taylor CM, Krachmer JH, Sheffield VC, Stone EM. Héon E, et al. Among authors: sheffield vc. Hum Mol Genet. 1995 Mar;4(3):485-8. doi: 10.1093/hmg/4.3.485. Hum Mol Genet. 1995. PMID: 7795607

4

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.

Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM. Nichols BE, et al. Among authors: sheffield vc. Nat Genet. 1993 Mar;3(3):202-7. doi: 10.1038/ng0393-202. Nat Genet. 1993. PMID: 8485574

5

Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.

Sheffield VC, Kraiem Z, Beck JC, Nishimura D, Stone EM, Salameh M, Sadeh O, Glaser B. Sheffield VC, et al. Nat Genet. 1996 Apr;12(4):424-6. doi: 10.1038/ng0496-424. Nat Genet. 1996. PMID: 8630498

6

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.

Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC. Nishimura DY, et al. Among authors: sheffield vc. Nat Genet. 1998 Jun;19(2):140-7. doi: 10.1038/493. Nat Genet. 1998. PMID: 9620769

7

Molecular genetics of age-related macular degeneration.

Stone EM, Sheffield VC, Hageman GS. Stone EM, et al. Among authors: sheffield vc. Hum Mol Genet. 2001 Oct 1;10(20):2285-92. doi: 10.1093/hmg/10.20.2285. Hum Mol Genet. 2001. PMID: 11673412 Review.

8

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Lüleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC. Mykytyn K, et al. Among authors: sheffield vc. Nat Genet. 2002 Aug;31(4):435-8. doi: 10.1038/ng935. Epub 2002 Jul 15. Nat Genet. 2002. PMID: 12118255

9

Missense variations in the fibulin 5 gene and age-related macular degeneration.

Stone EM, Braun TA, Russell SR, Kuehn MH, Lotery AJ, Moore PA, Eastman CG, Casavant TL, Sheffield VC. Stone EM, et al. Among authors: sheffield vc. N Engl J Med. 2004 Jul 22;351(4):346-53. doi: 10.1056/NEJMoa040833. N Engl J Med. 2004. PMID: 15269314 Free article.

10

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC. Nishimura DY, et al. Among authors: sheffield vc. Am J Hum Genet. 2005 Dec;77(6):1021-33. doi: 10.1086/498323. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380913 Free PMC article.

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