Musarella MA - Search Results

1

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP, Koenekoop RK. den Hollander AI, et al. Among authors: musarella ma. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5690-8. doi: 10.1167/iovs.07-0610. Invest Ophthalmol Vis Sci. 2007. PMID: 18055821

2

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

3

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.

4

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

5

Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex.

Roux AF, Rommens J, McDowell C, Anson-Cartwright L, Bell S, Schappert K, Fishman GA, Musarella M. Roux AF, et al. Hum Mol Genet. 1994 Feb;3(2):257-63. doi: 10.1093/hmg/3.2.257. Hum Mol Genet. 1994. PMID: 8004092

6

Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families.

Musarella MA, Anson-Cartwright L, Leal SM, Gilbert LD, Worton RG, Fishman GA, Ott J. Musarella MA, et al. Genomics. 1990 Oct;8(2):286-96. doi: 10.1016/0888-7543(90)90284-2. Genomics. 1990. PMID: 1979051 Free PMC article.

7

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.

8

Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis.

Riess O, Weber B, Noeremolle A, Shaikh RA, Hayden MR, Musarella MA. Riess O, et al. Among authors: musarella ma. Hum Mutat. 1992;1(6):478-85. doi: 10.1002/humu.1380010605. Hum Mutat. 1992. PMID: 1338765

9

Clinical spectrum of leber's congenital amaurosis in the second to fourth decades of life.

Smith D, Oestreicher J, Musarella MA. Smith D, et al. Among authors: musarella ma. Ophthalmology. 1990 Sep;97(9):1156-61. doi: 10.1016/s0161-6420(90)32442-9. Ophthalmology. 1990. PMID: 2234847

10

Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.

Acar C, Mears AJ, Yashar BM, Maheshwary AS, Andreasson S, Baldi A, Sieving PA, Iannaccone A, Musarella MA, Jacobson SG, Swaroop A. Acar C, et al. Among authors: musarella ma. Mol Vis. 2003 Jan 24;9:14-7. Mol Vis. 2003. PMID: 12552256 Free article.

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