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Irene H. Maumenee
Researcher at University of Illinois at Chicago
Publications - 157
Citations - 8541
Irene H. Maumenee is an academic researcher from University of Illinois at Chicago. The author has contributed to research in topics: Retinal pigment epithelium & Visual acuity. The author has an hindex of 52, co-authored 154 publications receiving 8143 citations. Previous affiliations of Irene H. Maumenee include Johns Hopkins University School of Medicine & Utah State University.
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Journal ArticleDOI
Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
Ching-Hwa Sung,Carol M. Davenport,Jill C. Hennessey,Irene H. Maumenee,Samuel G. Jacobson,John R. Heckenlively,Rodney Nowakowski,Gerald A. Fishman,Peter Gouras,Jeremy Nathans +9 more
TL;DR: DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis, finding thirty-nine patients found to carry 1 of 13 different point mutations at 12 amino acid positions.
Journal ArticleDOI
Genetic origin of mutations predisposing to retinoblastoma.
Webster K. Cavenee,Marc F. Hansen,Magnus Nordenskjöld,Eric Kock,Irene H. Maumenee,Jeremy A. Squire,Robert A. Phillips,Brenda L. Gallie +7 more
TL;DR: A new approach for identifying recessive mutant genes that lead to cancer and a conceptual basis for accurate prenatal predictions of cancer predisposition are suggested.
Journal ArticleDOI
Molecular Genetics of Human Blue Cone Monochromacy
Jeremy Nathans,Carol M. Davenport,Irene H. Maumenee,Richard A. Lewis,J. Fielding Hejtmancik,Michael Litt,Everett W. Lovrien,Richard G. Weleber,Brian Bachynski,Fred Zwas,Roger L. Klingaman,Gerald A. Fishman +11 more
TL;DR: Blue cone monochromacy is a rare X-linked disorder of color vision characterized by the absence of both red and green cone sensitivities; in 12 of 12 families carrying this trait, alterations are observed in the red andGreen visual pigment gene cluster.
Journal ArticleDOI
Autosomal Dominant Cerulean Cataract Is Associated with a Chain Termination Mutation in the Human β-Crystallin Gene CRYBB2
Michael Litt,Roque D. Carrero-Valenzuela,Dante M. LaMorticella,Dennis W. Schultz,Thomas N. Mitchell,Patricia L. Kramer,Irene H. Maumenee +6 more
TL;DR: It is reported that a chain-termination mutation in CRYBB2 is associated with ADCC in this family, in which the affected daughter of a first cousin mating was presumed to be homozygous for the cataract gene.
Journal ArticleDOI
Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome.
Elias I. Traboulsi,Elias I. Traboulsi,Anne J. Krush,Anne J. Krush,Eldon J. Gardner,Eldon J. Gardner,Susan V. Booker,Susan V. Booker,G. Johan A. Offerhaus,G. Johan A. Offerhaus,John H. Yardley,John H. Yardley,Stanley R. Hamilton,Stanley R. Hamilton,Gordon D. Luk,Gordon D. Luk,Francis M. Giardiello,Francis M. Giardiello,Steven B. Welsh,Steven B. Welsh,J. Preston Hughes,J. Preston Hughes,Irene H. Maumenee,Irene H. Maumenee +23 more
TL;DR: The multiplicity of the pigmented fundus lesions and their association with diffuse disturbances of the retinal pigment epithelium in the same eye suggest a widespread expression of the abnormal gene in the retina pigment epithelial cells of the retina.