Lewis RA - Search Results

1

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.

Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A. Bassi MT, et al. Among authors: lewis ra. Nat Genet. 1995 May;10(1):13-9. doi: 10.1038/ng0595-13. Nat Genet. 1995. PMID: 7647783

2

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.

Bassi MT, Bergen AA, Bitoun P, Charles SJ, Clementi M, Gosselin R, Hurst J, Lewis RA, Lorenz B, Meitinger T, Messiaen L, Ramesar RS, Ballabio A, Schiaffino MV. Bassi MT, et al. Among authors: lewis ra. Hum Genet. 2001 Jan;108(1):51-4. doi: 10.1007/s004390000440. Hum Genet. 2001. PMID: 11214907

3

Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor.

Burns WN, Schiaffino MV, Lewis RA. Burns WN, et al. Among authors: lewis ra. Fertil Steril. 1998 Dec;70(6):1169-72. doi: 10.1016/s0015-0282(98)00387-2. Fertil Steril. 1998. PMID: 9848314 Free article.

4

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.

Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR. Katsanis N, et al. Among authors: lewis ra. Nat Genet. 2000 Sep;26(1):67-70. doi: 10.1038/79201. Nat Genet. 2000. PMID: 10973251

5

OA1 mutations and deletions in X-linked ocular albinism.

Schnur RE, Gao M, Wick PA, Keller M, Benke PJ, Edwards MJ, Grix AW, Hockey A, Jung JH, Kidd KK, Kistenmacher M, Levin AV, Lewis RA, Musarella MA, Nowakowski RW, Orlow SJ, Pagon RS, Pillers DA, Punnett HH, Quinn GE, Tezcan K, Wagstaff J, Weleber RG. Schnur RE, et al. Among authors: lewis ra. Am J Hum Genet. 1998 Apr;62(4):800-9. doi: 10.1086/301776. Am J Hum Genet. 1998. PMID: 9529334 Free PMC article.

6

Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.

Oetting WS, Mentink MM, Summers CG, Lewis RA, White JG, King RA. Oetting WS, et al. Among authors: lewis ra. Am J Hum Genet. 1991 Jul;49(1):199-206. Am J Hum Genet. 1991. PMID: 1905879 Free PMC article.

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

8

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

9

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.

10

Genetic heterogeneity among blue-cone monochromats.

Nathans J, Maumenee IH, Zrenner E, Sadowski B, Sharpe LT, Lewis RA, Hansen E, Rosenberg T, Schwartz M, Heckenlively JR, et al. Nathans J, et al. Among authors: lewis ra. Am J Hum Genet. 1993 Nov;53(5):987-1000. Am J Hum Genet. 1993. PMID: 8213841 Free PMC article.

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