Lewis RA - Search Results

1

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: lewis ra. 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

2

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.

3

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.

4

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.

5

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

6

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.

7

Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.

Shroyer NF, Lewis RA, Lupski JR. Shroyer NF, et al. Among authors: lewis ra. Hum Genet. 2000 Feb;106(2):244-8. doi: 10.1007/s004390051034. Hum Genet. 2000. PMID: 10746567

8

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.

9

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

10

Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1.

Blazo MA, Lewis RA, Chintagumpala MM, Frazier M, McCluggage C, Plon SE. Blazo MA, et al. Among authors: lewis ra. Am J Med Genet A. 2004 Jun 15;127A(3):224-9. doi: 10.1002/ajmg.a.20650. Am J Med Genet A. 2004. PMID: 15150770

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