Leppert M - Search Results

1

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M. Allikmets R, et al. Among authors: leppert m. Science. 1997 Sep 19;277(5333):1805-7. doi: 10.1126/science.277.5333.1805. Science. 1997. PMID: 9295268

2

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR. Allikmets R, et al. Among authors: leppert m. Nat Genet. 1997 Mar;15(3):236-46. doi: 10.1038/ng0397-236. Nat Genet. 1997. PMID: 9054934

3

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

Lewis RA, Shroyer NF, Singh N, Allikmets R, Hutchinson A, Li Y, Lupski JR, Leppert M, Dean M. Lewis RA, et al. Among authors: leppert m. Am J Hum Genet. 1999 Feb;64(2):422-34. doi: 10.1086/302251. Am J Hum Genet. 1999. PMID: 9973280 Free PMC article.

4

The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial.

Shroyer NF, Lewis RA, Allikmets R, Singh N, Dean M, Leppert M, Lupski JR. Shroyer NF, et al. Among authors: leppert m. Vision Res. 1999 Jul;39(15):2537-44. doi: 10.1016/s0042-6989(99)00037-1. Vision Res. 1999. PMID: 10396622 Free article. Review.

5

Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings.

Bernstein PS, Leppert M, Singh N, Dean M, Lewis RA, Lupski JR, Allikmets R, Seddon JM. Bernstein PS, et al. Among authors: leppert m. Invest Ophthalmol Vis Sci. 2002 Feb;43(2):466-73. Invest Ophthalmol Vis Sci. 2002. PMID: 11818392

6

Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene.

Bernstein PS, Tammur J, Singh N, Hutchinson A, Dixon M, Pappas CM, Zabriskie NA, Zhang K, Petrukhin K, Leppert M, Allikmets R. Bernstein PS, et al. Among authors: leppert m. Invest Ophthalmol Vis Sci. 2001 Dec;42(13):3331-6. Invest Ophthalmol Vis Sci. 2001. PMID: 11726641

7

A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p.

Anderson KL, Baird L, Lewis RA, Chinault AC, Otterud B, Leppert M, Lupski JR. Anderson KL, et al. Among authors: leppert m. Am J Hum Genet. 1995 Dec;57(6):1351-63. Am J Hum Genet. 1995. PMID: 8533764 Free PMC article.

8

Human genetic mapping and inherited deafness syndromes.

Leppert MF, Lewis RA. Leppert MF, et al. Ann N Y Acad Sci. 1991;630:38-48. doi: 10.1111/j.1749-6632.1991.tb19574.x. Ann N Y Acad Sci. 1991. PMID: 1952622 Review. No abstract available.

9

Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation.

Hubbard AF, Askew EW, Singh N, Leppert M, Bernstein PS. Hubbard AF, et al. Among authors: leppert m. Arch Ophthalmol. 2006 Feb;124(2):257-63. doi: 10.1001/archopht.124.2.257. Arch Ophthalmol. 2006. PMID: 16476896

10

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients.

Dean M, White MB, Amos J, Gerrard B, Stewart C, Khaw KT, Leppert M. Dean M, et al. Among authors: leppert m. Cell. 1990 Jun 1;61(5):863-70. doi: 10.1016/0092-8674(90)90196-l. Cell. 1990. PMID: 2344617

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