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2. Analysis of CRB1 Pathogenic Variants Correctable with CRISPR Base and Prime Editing

Author

da Costa, Bruna Lopes, Jenny, Laura A., Maumenee, Irene H., Tsang, Stephen H., Quinn, Peter M. J., Crusio, Wim E., Series Editor, Dong, Haidong, Series Editor, Radeke, Heinfried H., Series Editor, Rezaei, Nima, Series Editor, Steinlein, Ortrud, Series Editor, Xiao, Junjie, Series Editor, Ash, John D., editor, Pierce, Eric, editor, Anderson, Robert E., editor, Bowes Rickman, Catherine, editor, Hollyfield, Joe G., editor, and Grimm, Christian, editor

Published
2023
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3. Publisher Correction: Marfan syndrome

Author

Milewicz, Dianna M., Braverman, Alan C., De Backer, Julie, Morris, Shaine A., Boileau, Catherine, Maumenee, Irene H., Jondeau, Guillaume, Evangelista, Arturo, and Pyeritz, Reed E.

Published
2022
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4. Marfan syndrome

Author

Milewicz, Dianna M., Braverman, Alan C., De Backer, Julie, Morris, Shaine A., Boileau, Catherine, Maumenee, Irene H., Jondeau, Guillaume, Evangelista, Arturo, and Pyeritz, Reed E.

Published
2021
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11. Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations.

Author

Lopes da Costa, Bruna, Kolesnikova, Masha, Levi, Sarah R., Cabral, Thiago, Tsang, Stephen H., Maumenee, Irene H., and Quinn, Peter M. J.

Subjects
GENOME editing, GENETIC mutation, RETINAL degeneration, ACADEMIC medical centers
Abstract

Mutations in the Crumbs homolog 1 (CRB1) gene lead to severe inherited retinal dystrophies (IRDs), accounting for nearly 80,000 cases worldwide. To date, there is no therapeutic option for patients suffering from CRB1-IRDs. Therefore, it is of great interest to evaluate gene editing strategies capable of correcting CRB1 mutations. A retrospective chart review was conducted on ten patients demonstrating one or two of the top ten most prevalent CRB1 mutations and receiving care at Columbia University Irving Medical Center, New York, NY, USA. Patient phenotypes were consistent with previously published data for individual CRB1 mutations. To identify the optimal gene editing strategy for these ten mutations, base and prime editing designs were evaluated. For base editing, we adopted the use of a near-PAMless Cas9 (SpRY Cas9), whereas for prime editing, we evaluated the canonical NGG and NGA prime editors. We demonstrate that for the correction of c.2843G>A, p.(Cys948Tyr), the most prevalent CRB1 mutation, base editing has the potential to generate harmful bystanders. Prime editing, however, avoids these bystanders, highlighting its future potential to halt CRB1-mediated disease progression. Additional studies investigating prime editing for CRB1-IRDs are needed, as well as a thorough analysis of prime editing's application, efficiency, and safety in the retina. [ABSTRACT FROM AUTHOR]

Published
2023
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14. Molecular Genetics of Human Blue Cone Monochromacy

Author

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, and Fishman, Gerald

Published
1989

17. Congenital motor nystagmus linked to Xq26-q27

Author

Kerrison, John B., Vagefi, M. Reza, Barmada, M. Michael, and Maumenee, Irene H.

Subjects
Genetic disorders -- Research, Chromosome mapping -- Usage, Nystagmus -- Genetic aspects, Biological sciences
Abstract

Congenital motor nystagmus (CMN) has been linked to the gene Xq26-q27. In three families with CMN inherited in an X-linked, irregularly dominant pattern, linkage and candidate gene analysis has been carried out. CMN may be X-linked or autosomal dominant or autosomal recessive. CMN is characterized by bilateral ocular oscillations that start in an infant's first 6 months.

Published
1999

19. The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations

Author

Dharmaraj, Sharola, Leroy, Bart P., Sohocki, Melanie M., Koenekoop, Robert K., Perrault, Isabelle, Anwar, Khalid, Khaliq, Shagufta, Devi, R. Summathi, Birch, David G., De Pool, Elaine, Izquierdo, Natalio, Van Maldergem, Lionel, Ismail, Mohammad, Payne, Annette M., Holder, Graham E., Bhattacharya, Shomi S., Bird, Alan C., Kaplan, Josseline, and Maumenee, Irene H.

Published
2004

21. Ehlers-Danlos syndrome

Author

Rowe, Peter C., Barron, Diana F., Calkins, Hugh, Maumenee, Irene H., Tong, Patrick Y., and Geraghty, Michael T.

Published
1999

28. Strabismus in the Marfan syndrome

Author

Izquierdo, Natalio J., Traboulsi, Elias I., Enger, Cheryl, and Maumenee, Irene H.

Subjects
Marfan syndrome -- Complications, Strabismus -- Diagnosis, Health
Published
1994

30. Ocular findings in Cockayne syndrome

Author

Traboulsi, Elias I., De Becker, Inge, and Maumenee, Irene H.

Subjects
Ocular manifestations of general diseases -- Genetic aspects, Human chromosome abnormalities -- Physiological aspects, Health
Published
1992

31. Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria

Author

Traboulsi, Elias I., Silva, Juan Carlos, Geraghty, Michael T., Maumenee, Irene H., Valle, David, and Green, W. Richard

Subjects
Vitamin B12 deficiency -- Physiological aspects, Malonates -- Physiological aspects, Metabolism, Inborn errors of -- Physiological aspects, Homocystinuria -- Physiological aspects, Vitamin B12 metabolism -- Physiological aspects, Health
Abstract

The eyes of a 22-month-old girl with the cobalamin C complementation type of combined methylmalonic aciduria and homocystinuria were studied with light and electron microscopy. We observed vacuolization of the iris pigment epithelium, loss of photoreceptors in the central 3.3 mm of the macula, partial loss of the nerve fiber and ganglion cell layers between the fovea and optic disk, and partial optic atrophy. The sclera in the posterior pole was thickened with deposition of mucopolysaccharide. Electron microscopy showed inclusions containing fine granular material in conjunctival fibrocytes; corneal epithelium, keratocytes, and endothelial cells; iris pigment epithelium; ganglion cells; retinal pigment epithelium; and choroid and scleral fibrocytes. Enlarged mitochondria and clear vacuoles distended the corneal endothelial cells. We found evidence of possible lysosomal dysfunction and mucopolysaccharide storage, as well as a clinicopathologic correlation of the macular degeneration in this disease.

Published
1992

32. A clinicopathologic study of the eyes in familial adenomatous polyposis with extracolonic manifestations (Gardner's Syndrome)

Author

Traboulsi, Elias I., Murphy, Sean F., de la Cruz, Zenaida, Maumenee, Irene H., and Green, W. Richard

Subjects
Retinal diseases -- Physiological aspects, Gardner's syndrome -- Research, Ocular manifestations of general diseases -- Research, Health
Abstract

Gardner's syndrome is an inherited condition that often begins in adolescence or young adulthood. Patients with Gardner's syndrome have familial adenomatous polyposis (multiple polyps of the colon), as well as manifestations of disease outside the colon. Eventually, the colonic polyps progress to malignant adenocarcinoma. The most common extracolonic complications involve pigmented ocular fundus lesions. About 80 percent of patients with familial adenomatous polyposis have eye lesions. There appears to be a consistency within families in the number of eye lesions that an individual may develop; four lesions are accepted as an indicator of the presence of the eye condition. The eyes of a 51-year-old woman who died from colon cancer were studied. The patient had undergone partial removal of the colon in 1956. By 1985, she had adenocarcinoma of the colon with metastasis. Eye involvement was also detected; 12 lesions were found in each eye. The histopathologic findings indicate that it is likely that the same gene that caused the familial adenomatous polyposis also caused the lesions in the outer retina. These pigmented eye lesions have been called congenital hypertrophy of the retinal pigment epithelium. The lesions do not invade adjacent tissues and are usually only a few cell layers thick. They function abnormally and produced large melanin (pigmented) granules that eventually kill the cells, which causes degeneration of the overlying photoreceptor cells. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1990

37. Congenital cavitary optic disc anomaly and Axenfeld’s anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature.

Author

Ali, Mohsin H., Azar, Nathalie F., Aakalu, Vinay, Chau, Felix Y., Abbasian, Javaneh, Setabutr, Pete, and Maumenee, Irene H.

Subjects
WOLF-Hirschhorn syndrome, GENETIC testing, CHROMOSOME abnormalities, PHENOTYPES, EYE examination
Abstract

Background: Wolf-Hirschhorn syndrome is a rare genetic syndrome caused by a heterozygous deletion on chromosome 4p16.3 and is characterized by a “Greek warrior helmet” facies, hypotonia, developmental delay, seizures, structural central nervous system defects, intrauterine growth restriction, sketelal anomalies, cardiac defects, abnormal tooth development, and hearing loss. A variety of ocular manifestations may occur in up to 40% of patients. Materials/methods: We report the genetic testing results, systemic findings, and complete ophthalmologic examination findings in a patient with Wolf-Hirschhorn syndrome, including external photography, RetCam3 (Clarity Medical Systems, Pleasonton, CA) goniography, and fundus photography. In addition, we review the literature on ocular manifestations of Wolf-Hirschhorn syndrome. Results: Microarray analysis revealed an unbalanced translocation between 4p16.3–15.3 and Xp22.33-p22.2. Systemic findings included “Greek warrior helmet” facies, hypotonia, cleft palate, neonatal tooth eruption, talipes equinovarus, bilateral clinodactyly, clitoromegaly, partial agenesis of the corpus callosum, bilateral renal hypoplasia, and two atrial septal defects. Ocular findings included normal intraocular pressures and corneal diameters, large-angle exotropia, downward slanting of the palpebral fissures, absent eyelid creases, upper and lower eyelid retraction with shortage of the anterior eyelid lamellae, euryblepharon, lagophthalmos with poor Bell’s reflex and exposure keratopathy, hypertelorism, Axenfeld’s anomaly, megalopapillae, and cavitary optic disc anomaly. Conclusions: We describe the ocular phenotype of a patient with Wolf-Hirschhorn syndrome, including the rare descriptions and photographs of Axenfeld’s anomaly, megalopapilla, and cavitary optic disc anomaly in this condition. [ABSTRACT FROM PUBLISHER]

Published
2018
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38. Gene Therapy in Patient-specific Stem Cell Lines and a Preclinical Model of Retinitis Pigmentosa With Membrane Frizzled-related Protein Defects

Author

Li, Yao, primary, Wu, Wen-Hsuan, additional, Hsu, Chun-Wei, additional, Nguyen, Huy V, additional, Tsai, Yi-Ting, additional, Chan, Lawrence, additional, Nagasaki, Takayuki, additional, Maumenee, Irene H, additional, Yannuzzi, Lawrence A, additional, Hoang, Quan V, additional, Hua, Haiqing, additional, Egli, Dieter, additional, and Tsang, Stephen H, additional

Published
2014
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39. IQCB1Mutations in Patients with Leber Congenital Amaurosis

Author

Estrada-Cuzcano, Alejandro, primary, Koenekoop, Robert K., additional, Coppieters, Frauke, additional, Kohl, Susanne, additional, Lopez, Irma, additional, Collin, Rob W. J., additional, De Baere, Elfride B. W., additional, Roeleveld, Debbie, additional, Marek, Jonah, additional, Bernd, Antje, additional, Rohrschneider, Klaus, additional, van den Born, L. Ingeborgh, additional, Meire, Françoise, additional, Maumenee, Irene H., additional, Jacobson, Samuel G., additional, Hoyng, Carel B., additional, Zrenner, Eberhart, additional, Cremers, Frans P. M., additional, and den Hollander, Anneke I., additional

Published
2011
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40. Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: Implications for the structure and function of rhodopsin

Author

Macke, Jennifer P., Davenport, Carol M., Jacobson, Samuel G., Hennessey, Jill C., Gonzalez-Fernandez, Federico, Conway, Brian P., Heckenlively, John, Palmer, Rosalind, Maumenee, Irene H., Sieving, Paul, Gouras, Peter, Good, William, and Nathans, Jeremy

Subjects
Male, Rhodopsin, Protein Conformation, DNA Mutational Analysis, Original Articles, Blindness, Polymerase Chain Reaction, Pedigree, Gene Frequency, Night Blindness, Mutation, Humans, Female, Alleles, Retinitis Pigmentosa
Abstract

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 with congenital stationary night blindness. Eight of these mutations (gly51-to-ala, val104-to-ile, gly106-to-arg, arg135-to-gly, cys140-to-ser, gly188-to-glu, val209-to-met, and his211-to-arg) produce amino acid substitutions, one (gln64-to-ter) introduces a stop codon, and one changes a guanosine in the intron 4 consensus splice donor sequence to thymidine. Cosegregation of RP with gln64-to-ter, gly106-to-arg, arg135-to-gly, cys140-to-ser, gly188-to-glu, his211-to-arg, and the splice site guanosine-to-thymidine indicates that these mutations are likely to cause retinal disease. Val104-to-ile does not cosegregate and is therefore unlikely to be related to retinal disease. The relevance of gly51-to-ala and val209-to-met remains to be determined. The finding of gln64-to-ter in a family with autosomal dominant RP is in contrast to a recent report of a recessive disease phenotype associated with the rhodopsin mutation glu249-to-ter. In the present screen, all of the mutations that cosegregate with retinal disease were found among patients with RP. The mutations described here bring to 35 the total number of amino acid substitutions identified thus far in rhodopsin that are associated with RP. The distribution of the substitutions along the polypeptide chain is significantly nonrandom: 63% of the substitutions involve those 19% of amino acids that are identical among vertebrate visual pigments sequenced to date.

Published
1993

42. Identification of Novel Mutations in Patients with Leber Congenital Amaurosis and Juvenile RP by Genome-wide Homozygosity Mapping with SNP Microarrays

Author

den Hollander, Anneke I., primary, Lopez, Irma, additional, Yzer, Suzanne, additional, Zonneveld, Marijke N., additional, Janssen, Irene M., additional, Strom, Tim M., additional, Hehir-Kwa, Jayne Y., additional, Veltman, Joris A., additional, Arends, Maarten L., additional, Meitinger, Thomas, additional, Musarella, Maria A., additional, van den Born, L. Ingeborgh, additional, Fishman, Gerald A., additional, Maumenee, Irene H., additional, Rohrschneider, Klaus, additional, Cremers, Frans P. M., additional, and Koenekoop, Robert K., additional

Published
2007
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43. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

Author

den Hollander, Anneke I, primary, Koenekoop, Robert K, additional, Mohamed, Moin D, additional, Arts, Heleen H, additional, Boldt, Karsten, additional, Towns, Katherine V, additional, Sedmak, Tina, additional, Beer, Monika, additional, Nagel-Wolfrum, Kerstin, additional, McKibbin, Martin, additional, Dharmaraj, Sharola, additional, Lopez, Irma, additional, Ivings, Lenka, additional, Williams, Grange A, additional, Springell, Kelly, additional, Woods, C Geoff, additional, Jafri, Hussain, additional, Rashid, Yasmin, additional, Strom, Tim M, additional, van der Zwaag, Bert, additional, Gosens, Ilse, additional, Kersten, Ferry F J, additional, van Wijk, Erwin, additional, Veltman, Joris A, additional, Zonneveld, Marijke N, additional, van Beersum, Sylvia E C, additional, Maumenee, Irene H, additional, Wolfrum, Uwe, additional, Cheetham, Michael E, additional, Ueffing, Marius, additional, Cremers, Frans P M, additional, Inglehearn, Chris F, additional, and Roepman, Ronald, additional

Published
2007
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44. Delivery from Episcleral Exoplants

Author

Pontes de Carvalho, Ricardo A., primary, Krausse, Melissa L., additional, Murphree, A. Linn, additional, Schmitt, Edward E., additional, Campochiaro, Peter A., additional, and Maumenee, Irene H., additional

Published
2006
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46. Late-Onset Macular Degeneration and Long Anterior Lens Zonules Result from aCTRP5Gene Mutation

Author

Ayyagari, Radha, primary, Mandal, Md Nawajes A., additional, Karoukis, Athanasios J., additional, Chen, Lianchun, additional, McLaren, Ning C., additional, Lichter, Mona, additional, Wong, David T., additional, Hitchcock, Peter F., additional, Caruso, Rafael C., additional, Moroi, Sayoko E., additional, Maumenee, Irene H., additional, and Sieving, Paul A., additional

Published
2005
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