Lupski JR - Search Results

1

Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.

Bidinost C, Hernandez N, Edward DP, Al-Rajhi A, Lewis RA, Lupski JR, Stockton DW, Bejjani BA. Bidinost C, et al. Among authors: lupski jr. Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1486-90. doi: 10.1167/iovs.05-0763. Invest Ophthalmol Vis Sci. 2006. PMID: 16565383

2

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

3

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.

4

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

5

Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.

Stockton DW, Ross HL, Bacino CA, Altman CA, Shaffer LG, Lupski JR. Stockton DW, et al. Among authors: lupski jr. Am J Med Genet. 1997 Aug 8;71(2):189-93. doi: 10.1002/(sici)1096-8628(19970808)71:2<189::aid-ajmg13>3.0.co;2-a. Am J Med Genet. 1997. PMID: 9217220

6

Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.

Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, Astle WF, Otterud B, Leppert M, Lupski JR. Bejjani BA, et al. Among authors: lupski jr. Am J Hum Genet. 1998 Feb;62(2):325-33. doi: 10.1086/301725. Am J Hum Genet. 1998. PMID: 9463332 Free PMC article.

7

Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179.

Zhao Q, Chen KS, Bejjani BA, Lupski JR. Zhao Q, et al. Among authors: lupski jr. Genomics. 1998 May 1;49(3):394-400. doi: 10.1006/geno.1998.5285. Genomics. 1998. PMID: 9615224

8

A novel locus for Leber congenital amaurosis on chromosome 14q24.

Stockton DW, Lewis RA, Abboud EB, Al-Rajhi A, Jabak M, Anderson KL, Lupski JR. Stockton DW, et al. Among authors: lupski jr. Hum Genet. 1998 Sep;103(3):328-33. doi: 10.1007/s004390050825. Hum Genet. 1998. PMID: 9799089

9

Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.

Katsanis N, Lewis RA, Stockton DW, Mai PM, Baird L, Beales PL, Leppert M, Lupski JR. Katsanis N, et al. Among authors: lupski jr. Am J Hum Genet. 1999 Dec;65(6):1672-9. doi: 10.1086/302684. Am J Hum Genet. 1999. PMID: 10577921 Free PMC article.

10

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR. Bejjani BA, et al. Among authors: lupski jr. Hum Mol Genet. 2000 Feb 12;9(3):367-74. doi: 10.1093/hmg/9.3.367. Hum Mol Genet. 2000. PMID: 10655546

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