Musarella MA - Search Results

1

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, Bergen AA, Prinsen CF, Polomeno RC, Gal A, Drack AV, Musarella MA, Jacobson SG, Young RS, Weleber RG. Bech-Hansen NT, et al. Among authors: musarella ma. Nat Genet. 2000 Nov;26(3):319-23. doi: 10.1038/81619. Nat Genet. 2000. PMID: 11062471

2

Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.

Boycott KM, Pearce WG, Musarella MA, Weleber RG, Maybaum TA, Birch DG, Miyake Y, Young RS, Bech-Hansen NT. Boycott KM, et al. Among authors: musarella ma. Am J Hum Genet. 1998 Apr;62(4):865-75. doi: 10.1086/301781. Am J Hum Genet. 1998. PMID: 9529339 Free PMC article.

3

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.

Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM. Bech-Hansen NT, et al. Among authors: musarella ma. Nat Genet. 1998 Jul;19(3):264-7. doi: 10.1038/947. Nat Genet. 1998. PMID: 9662400

4

Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3.

Musarella MA, Weleber RG, Murphey WH, Young RS, Anson-Cartwright L, Mets M, Kraft SP, Polemeno R, Litt M, Worton RG. Musarella MA, et al. Genomics. 1989 Nov;5(4):727-37. doi: 10.1016/0888-7543(89)90114-6. Genomics. 1989. PMID: 2574143

5

Dystrophin expression in the human retina is required for normal function as defined by electroretinography.

Pillers DA, Bulman DE, Weleber RG, Sigesmund DA, Musarella MA, Powell BR, Murphey WH, Westall C, Panton C, Becker LE, et al. Pillers DA, et al. Among authors: musarella ma. Nat Genet. 1993 May;4(1):82-6. doi: 10.1038/ng0593-82. Nat Genet. 1993. PMID: 8513332

6

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.

Buraczynska M, Wu W, Fujita R, Buraczynska K, Phelps E, Andréasson S, Bennett J, Birch DG, Fishman GA, Hoffman DR, Inana G, Jacobson SG, Musarella MA, Sieving PA, Swaroop A. Buraczynska M, et al. Among authors: musarella ma. Am J Hum Genet. 1997 Dec;61(6):1287-92. doi: 10.1086/301646. Am J Hum Genet. 1997. PMID: 9399904 Free PMC article.

7

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: musarella ma. Am J Hum Genet. 1998 Apr;62(4):800-9. doi: 10.1086/301776. Am J Hum Genet. 1998. PMID: 9529334 Free PMC article.

8

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A. Breuer DK, et al. Among authors: musarella ma. Am J Hum Genet. 2002 Jun;70(6):1545-54. doi: 10.1086/340848. Epub 2002 Apr 30. Am J Hum Genet. 2002. PMID: 11992260 Free PMC article.

9

Mutation analysis of 3 genes in patients with Leber congenital amaurosis.

Lotery AJ, Namperumalsamy P, Jacobson SG, Weleber RG, Fishman GA, Musarella MA, Hoyt CS, Héon E, Levin A, Jan J, Lam B, Carr RE, Franklin A, Radha S, Andorf JL, Sheffield VC, Stone EM. Lotery AJ, et al. Among authors: musarella ma. Arch Ophthalmol. 2000 Apr;118(4):538-43. doi: 10.1001/archopht.118.4.538. Arch Ophthalmol. 2000. PMID: 10766140

10

Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).

Spritz RA, Lee ST, Fukai K, Brondum-Nielsen K, Chitayat D, Lipson MH, Musarella MA, Rosenmann A, Weleber RG. Spritz RA, et al. Among authors: musarella ma. Hum Mutat. 1997;10(2):175-7. doi: 10.1002/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.0.CO;2-X. Hum Mutat. 1997. PMID: 9259203 No abstract available.

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