Lupski JR - Search Results

1

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

Wiszniewski W, Zaremba CM, Yatsenko AN, Jamrich M, Wensel TG, Lewis RA, Lupski JR. Wiszniewski W, et al. Among authors: lupski jr. Hum Mol Genet. 2005 Oct 1;14(19):2769-78. doi: 10.1093/hmg/ddi310. Epub 2005 Aug 15. Hum Mol Genet. 2005. PMID: 16103129

2

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.

Pentao L, Lewis RA, Ledbetter DH, Patel PI, Lupski JR. Pentao L, et al. Among authors: lupski jr. Am J Hum Genet. 1992 Apr;50(4):690-9. Am J Hum Genet. 1992. PMID: 1347967 Free PMC article.

3

Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

Leppert M, Baird L, Anderson KL, Otterud B, Lupski JR, Lewis RA. Leppert M, et al. Among authors: lupski jr. Nat Genet. 1994 May;7(1):108-12. doi: 10.1038/ng0594-108. Nat Genet. 1994. PMID: 8075632

4

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR. Wise CA, et al. Among authors: lupski jr. Am J Hum Genet. 1993 Oct;53(4):853-63. Am J Hum Genet. 1993. PMID: 8105684 Free PMC article.

5

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: lupski jr. Am J Hum Genet. 1995 Dec;57(6):1351-63. Am J Hum Genet. 1995. PMID: 8533764 Free PMC article.

6

Ophthalmic manifestations of Smith-Magenis syndrome.

Chen RM, Lupski JR, Greenberg F, Lewis RA. Chen RM, et al. Among authors: lupski jr. Ophthalmology. 1996 Jul;103(7):1084-91. doi: 10.1016/s0161-6420(96)30563-0. Ophthalmology. 1996. PMID: 8684798 Review.

7

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2).

Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, Murphy MA, Williamson D, Brown F, Dutton R, McCluggage C, Friedman E, Sulek M, Lupski JR. Greenberg F, et al. Among authors: lupski jr. Am J Med Genet. 1996 Mar 29;62(3):247-54. doi: 10.1002/(SICI)1096-8628(19960329)62:3<247::AID-AJMG9>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8882782

8

A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenile-onset open angle glaucoma.

Anderson KL, Lewis RA, Bejjani BA, Baird L, Otterud B, Tomey KF, Astle WF, Dueker DK, Leppert M, Lupski JR. Anderson KL, et al. Among authors: lupski jr. J Glaucoma. 1996 Dec;5(6):416-21. J Glaucoma. 1996. PMID: 8946299

9

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: lupski jr. Nat Genet. 1997 Mar;15(3):236-46. doi: 10.1038/ng0397-236. Nat Genet. 1997. PMID: 9054934

10

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: lupski jr. Science. 1997 Sep 19;277(5333):1805-7. doi: 10.1126/science.277.5333.1805. Science. 1997. PMID: 9295268

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