Lewis RA - Search Results

1

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: lewis ra. Am J Hum Genet. 1992 Apr;50(4):690-9. Am J Hum Genet. 1992. PMID: 1347967 Free PMC article.

2

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

3

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: lewis ra. Am J Hum Genet. 1998 Feb;62(2):325-33. doi: 10.1086/301725. Am J Hum Genet. 1998. PMID: 9463332 Free PMC article.

4

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: lewis ra. Hum Genet. 1998 Sep;103(3):328-33. doi: 10.1007/s004390050825. Hum Genet. 1998. PMID: 9799089

5

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: lewis ra. Am J Hum Genet. 1999 Dec;65(6):1672-9. doi: 10.1086/302684. Am J Hum Genet. 1999. PMID: 10577921 Free PMC article.

6

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, Woods MO, Green JS, Parfrey PS, Davidson WS, Lupski JR. Beales PL, et al. Among authors: lewis ra. Am J Hum Genet. 2001 Mar;68(3):606-16. doi: 10.1086/318794. Epub 2001 Feb 1. Am J Hum Genet. 2001. PMID: 11179009 Free PMC article.

7

Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).

Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. Yatsenko AN, et al. Among authors: lewis ra. Hum Genet. 2001 Apr;108(4):346-55. doi: 10.1007/s004390100493. Hum Genet. 2001. PMID: 11379881

8

Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment.

Reilly DS, Lewis RA, Ledbetter DH, Nussbaum RL. Reilly DS, et al. Among authors: lewis ra. Am J Hum Genet. 1988 May;42(5):748-55. Am J Hum Genet. 1988. PMID: 2895982 Free PMC article.

9

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: lewis ra. Nat Genet. 1994 May;7(1):108-12. doi: 10.1038/ng0594-108. Nat Genet. 1994. PMID: 8075632

10

Ophthalmic manifestations of Smith-Magenis syndrome.

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

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