Search Results - "Maumenee, I"

Genetic basis of total colourblindness among the Pingelapese islanders by Sundin, Olof H, Yang, Jun-Ming, Li, Yingying, Zhu, Danping, Hurd, Jane N, Mitchell, Thomas N, Silva, Eduardo D, Maumenee, Irene Hussels

“…Complete achromatopsia is a rare, autosomal recessive disorder characterized by photophobia, low visual acuity, nystagmus and a total inability to distinguish…”
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Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome by Rowe, Peter C., Barron, Diana F., Calkins, Hugh, Maumenee, Irene H., Tong, Patrick Y., Geraghty, Michael T.

“…Objective: To report chronic fatigue syndrome (CFS) associated with both Ehlers-Danlos syndrome (EDS) and orthostatic intolerance. Study design: Case series of…”
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Autosomal Dominant Cerulean Cataract Is Associated with a Chain Termination Mutation in the Human β-Crystallin Gene CRYBB2 by Litt, Michael, Carrero-Valenzuela, Roque, LaMorticella, Dante M., Schultz, Dennis W., Mitchell, Thomas N., Kramer, Patricia, Maumenee, Irene H.

“…Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial;…”
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A G1103R Mutation in CRB1 is Co-Inherited with High Hyperopia and Leber Congenital Amaurosis by Abouzeid, H., Li, Y., Maumenee, I. H., Dharmaraj, S., Sundin, O.

“…Purpose: To identify the genetic basis of recessive inheritance of high hyperopia and Leber congenital amaurosis (LCA) in a family of Middle Eastern origin…”
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Rhodopsin Mutations in Autosomal Dominant Retinitis Pigmentosa by Sung, Ching-Hwa, Davenport, Carol M., Hennessey, Jill C., Maumenee, Irene H., Jacobson, Samuel G., Heckenlively, John R., Nowakowski, Rodney, Fishman, Gerald, Gouras, Peter, Nathans, Jeremy

“…DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the…”
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Bestrophin Gene Mutations in Patients with Best Vitelliform Macular Dystrophy by Caldwell, Germaine M., Kakuk, Laura E., Griesinger, Irina B., Simpson, Stacey A., Nowak, Norma J., Small, Kent W., Maumenee, Irene H., Rosenfeld, Philip J., Sieving, Paul A., Shows, Thomas B., Ayyagari, Radha

“…Best vitelliform macular dystrophy (VMD2) is an autosomal dominant dystrophy with a juvenile age of onset. Mutations in the Bestrophin gene were shown in…”
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Congenital Motor Nystagmus Linked to Xq26-q27 by Kerrison, John B., Vagefi, M. Reza, Barmada, M. Michael, Maumenee, Irene H.

“…Congenital motor nystagmus (CMN) is a hereditary disorder characterized by bilateral ocular oscillations that begin in the first 6 mo of life. It must be…”
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CRIM1 haploinsufficiency causes defects in eye development in human and mouse by Beleggia, F., Li, Y., Fan, J., Elcio lu, N. H., Toker, E., Wieland, T., Maumenee, I. H., Akarsu, N. A., Meitinger, T., Strom, T. M., Lang, R., Wollnik, B.

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A CRX Null Mutation Is Associated with Both Leber Congenital Amaurosis and a Normal Ocular Phenotype by Silva, Eduardo, Yang, Jun-Ming, Li, Yingying, Dharmaraj, Sharola, Sundin, Olof H, Maumenee, Irene H

“…To identify and characterize new cone rod homeobox (CRX) mutations associated with the Leber congenital amaurosis phenotype. The human CRX gene was sequenced…”
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Visual prognosis in autosomal dominant optic atrophy (Kjer type) by Eliott, D, Traboulsi, E I, Maumenee, I H

“…We examined 25 patients from three pedigrees with dominant optic atrophy (Kjer type). Follow-up on 20 patients ranged from five to 40 years (mean, 16 years;…”
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Molecular Genetics of Human Blue Cone Monochromacy by Nathans, Jeremy, Davenport, Carol M., Maumenee, Irene H., Lewis, Richard Alan, Hejtmancik, J. Fielding, Litt, Michael, Lovrien, Everett, Weleber, Richard, Bachynski, Brian, Zwas, Fred, Klingaman, Roger, Fishman, Gerald

“…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…”
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Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease by Sohocki, Melanie M., Perrault, Isabelle, Leroy, Bart P., Payne, Annette M., Dharmaraj, Sharola, Bhattacharya, Shomi S., Kaplan, Josseline, Maumenee, Irene H., Koenekoop, Robert, Meire, Françoise M., Birch, David G., Heckenlively, John R., Daiger, Stephen P.

“…Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy and the most frequent cause of inherited blindness in children. LCA is…”
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Mutational analysis and clinical correlation in Leber congenital amaurosis by Dharmaraj, Sharola, Silva, Eduardo, Pina, Ana Luisa, Li, Ying Ying, Yang, Jun-Ming, Carter, R. Colin, Loyer, Magali, El-Hilali, Hala, Traboulsi, Elias, Sundin, Olof, Zhu, Danping, Koenekoop, Robert K., Maumenee, Irene H.

“…Leber congenital amaurosis (LCA, MIM 204001) is a clinically and genetically heterogeneous retinal disorder characterized by severe visual loss from birth,…”
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Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12 by Kerrison, John B., Koenekoop, Robert K., Arnould, Véronique J., Zee, David, Maumenee, Irene H.

“…To describe the clinical features of a large pedigree with autosomal dominant congenital nystagmus linked to chromosome 6p12. In a prospective evaluation of 54…”
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Identification of novel rhodopsin mutations responsible for retinitis pigmentosa : implications for the structure and function of rhodopsin by MACKE, J. P, DAVENPORT, C. M, GOURAS, P, GOOD, W, NATHANS, J, JACOBSON, S. G, HENNESSEY, J. C, GONZALEZ-FERNANDEZ, F, CONWAY, B. P, HECKENLIVELY, J, PALMER, R, MAUMENEE, I. H, SIEVING, P

“…Ten rhodopsin mutations have been found in a screen of 282 subjects with retinitis pigmentosa (RP), 76 subjects with Leber congenital amaurosis, and 3 subjects…”
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A case-control study of tobacco and alcohol consumption in leber hereditary optic neuropathy by Kerrison, John B, Miller, Neil R, Hsu, Fang-Chi, Beaty, Terri H, Maumenee, Irene H, Smith, Kyle H, Savino, Peter J, Stone, Edwin M, Newman, Nancy J

“…PURPOSE: To determine if tobacco or alcohol consumption is associated with vision loss among sibships harboring pathogenic mitochondrial mutations associated…”
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Genetic heterogeneity among blue-cone monochromats by NATHANS, J, MAUMENEE, I. H, TRABOULSI, E, KLINGAMAN, R, BECH-HANSEN, N. T, LAROCHE, G. R, PAGON, R. A, MURPHEY, W. H, WELEBER, R. G, ZRENNER, E, SADOWSKI, B, SHARPE, L. T, LEWIS, R. A, HANSEN, E, ROSENBERG, T, SCHWARTZ, M, HECKENLIVELY, J. R

“…Thirty-three unrelated subjects with blue-cone monochromacy or closely related variants of blue-cone monochromacy were examined for rearrangements in the…”
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A Novel Locus for Leber Congenital Amaurosis Maps to Chromosome 6q by Dharmaraj, Sharola, Li, Yingying, Robitaille, Johane M., Silva, Eduardo, Zhu, Danping, Mitchell, Thomas N., Maltby, Lara P., Baffoe-Bonnie, Agnes B., Maumenee, Irene H.

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A Gene for Autosomal Dominant Congenital Nystagmus Localizes to 6p12 by Kerrison, John B., Arnould, Véronique J., Barmada, M.Michael, Koenekoop, Robert K., Schmeckpeper, Barbara J., Maumenee, Irene H.

“…Congenital nystagmus is an idiopathic disorder characterized by bilateral ocular oscillations usually manifest during infancy. Vision is typically decreased…”
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Retinal detachment in Marfan syndrome by Loewenstein, A, Barequet, I S, De Juan, Jr, E, Maumenee, I H

“…To report postsurgical findings in patients with Marfan syndrome and retinal detachment (RD). The authors identified and retrospectively reviewed the charts of…”
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