Maria Musarella
Publications
Buraczynska M, Musarella M. Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. Amer J Hum Genet 1997;61,1287-1292
MacDonald IM, Haney PM, Musarella M. Summary of ocular genetic disorders and inherited systemic conditions with eye findings. Ophthalmic Genet 1998;Vol 19,1,117
Boycott KM, Pearce WG, Musarella M. Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. Amer J Hum Genet 1998;62,865-875
Schnur RE, Musarella M. OA1 mutations and deletions in X-linked ocular albinism. Amer J Hum Genet 1998; 62, 800-809
Torben N, Musarella M. Loss of function mutations in a calcium channel submit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nature Genetics July 1998; Vol 19, (Letter)
Inan C, Wong D, Wisniewski KE, Rose AL, Musarella M. First African- American child with juvenile neuronal ceroid lipofuscinosis. Am J Med Genet 1998 Oct 12;79(5):335-6
Richards JE, Ritch R, Lichter PR, Rozsa FW, Stringham HM, Caronia RM, Johnson D, Abundo P, Willcockson J, Downs CA, Thompson D, Musarella M, Gupta N, Othman MI, Torrez DM, Herman SB, Wong DJ, Higashi M, Oehnke M. Novel trabecular meshwork inducible glucocorticoid response mutation in an eight generation juvenile-onset primary open-angle glaucoma pedigree. Ophthalmology 1998 Sep;105(9):1698- 707
Inan C, Wong D, Wisniewski KE, Rose AL, Musarella M. First African-American child with juvenile neuronal ceroid lipofuscinosis. Am J Med Genet 1998 Oct 12;79(5):335-6
Richards JE, Ritch R, Lichter PR, Rozsa FW, Stringham HM, Caronia RM, Johnson D, Abundo GP, Willcockson J, Downs CA, Thompson DA, Musarella M, Gupta N, Othman MI, Torrez DM, Herman SB, Wong DJ, Higashi M, Boehnke M. Novel trabecular meshwork inducible glucocorticoid response mutation in an eight generation juvenile-onset primary open-angle glaucoma pedigree. Ophthalmology 1998 Sep;105(9):1698- 707
Spritz RA, Lee ST, Fukai K, Brondum-Nielsen K, Chitayat D, Lipson MH, Musarella M, Rosenmann A, Weleber RG. Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). Hum Mutat 1997;10(2):175-7
Spritz RA, Oh J, Fukai K, Holmes SA, Ho L, Chitayat D, France TD, Musarella M,Orlow SJ, Schnur RE, Weleber RG, Levin AV. Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1). Hum Mutat 1997;10(2):171-4
Brown J, Dry KL, Edgar AJ, Pryde FE, Hardwick LJ, Aldred MA, Lester DH, Boyle S, Kaplan J, Dufier JL, Ho MF, Monaco AM, Musarella M, Wright AF. Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3. Genomics 1996 Oct 15;37(2):200-10
Carroll A, Musarella M. Bardet Biedl syndrome presenting with nystagmus at 15 months of age. Submitted for publication
Musarella M, Carroll A. Nystagmus as the initial sign of Bardet-Biedl syndrome in a 15 month old child. Submitted
Musarella M, Carroll A, Verma R. An infant with Turner-Down double aneuploidy and massive capillary hemangioma of the orbit: a case report and literature review. In preparation.
Carroll A, Cohen J, Verma R, Musarella M. Treatment of an infant with Turner-Down double aneuploidy and massive orbital capillary hemangioma of the orbit with interferon-2. In preparation.
Carroll A, Musarella M. Multiple eyelid tumors as sole presenting manifestation of mycosis fungoides in a 47-year-old Afro-American patient: A clincopathologic correlation. In preparation
