I. Maumenee

发表

Molecular genetics of human blue cone monochromacy.

C. M. Davenport, J. Nathans, R. Lewis, 1989, Science.

Genetic heterogeneity among blue-cone monochromats.

J. Nathans, L. Sharpe, E. Zrenner, 1993, American journal of human genetics.

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy

B. Lorenz, D. Bonneau, P. Amati‐Bonneau, 2003, Human mutation.

IQCB1 mutations in patients with leber congenital amaurosis.

S. Jacobson, A. D. den Hollander, E. Zrenner, 2011, Investigative ophthalmology & visual science.

The cornea in connective tissue diseases.

I. Maumenee, 1978, Ophthalmology.

A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22.

P. Kramer, I. Maumenee, M. Litt, 1996, Genomics.

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.

P. Kramer, D. Schultz, I. Maumenee, 1997, Human molecular genetics.

Hepatoblastoma, pigmented ocular fundus lesions and jaw lesions in Gardner syndrome.

E. Traboulsi, G. Offerhaus, A. Krush, 1988, American journal of medical genetics.

Delivery from episcleral exoplants.

P. Campochiaro, E. Schmitt, I. Maumenee, 2006, Investigative ophthalmology & visual science.

Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy.

I. Maumenee, G. F. Judisch, G. Judisch, 1978, American journal of ophthalmology.

Glaucoma in the Marfan syndrome.

C. Enger, E. Traboulsi, I. Maumenee, 1992, Transactions of the American Ophthalmological Society.

The natural history of Leber's congenital amaurosis. Age-related findings in 35 patients.

E. Traboulsi, I. Maumenee, K. Heher, 1992, Ophthalmology.

Mutational analysis and clinical correlation in Leber congenital amaurosis

E. Traboulsi, R. Koenekoop, I. Maumenee, 2000, Ophthalmic genetics.

Autosomal-dominant fundus flavimaculatus. Clinicopathologic correlation.

W. Green, I. Maumenee, Z. C. de la Cruz, 1990, Ophthalmology.

Familial aniridia with preserved ocular function.

F. Elsas, I. Maumenee, K. Kenyon, 1977, American journal of ophthalmology.

Extraocular muscle aplasia in Moebius syndrome.

E. Traboulsi, I. Maumenee, 1986, Journal of pediatric ophthalmology and strabismus.

Marfan syndrome.

D. Milewicz, A. Evangelista, G. Jondeau, 2021, Nature reviews. Disease primers.

Biometry Characteristics in Adults and Children With Marfan Syndrome: From the Marfan Eye Consortium of Chicago.

I. Kassem, I. Maumenee, M. Mets, 2017, American journal of ophthalmology.

Microfibril abnormalities of the lens capsule in patients with Marfan syndrome and ectopia lentis

J. Whittum-Hudson, E. Traboulsi, I. Maumenee, 2000, Ophthalmic genetics.

Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome.

H. Calkins, M. Geraghty, I. Maumenee, 1999, The Journal of pediatrics.

Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity

G. Velez, Jesse D. Sengillo, A. Bassuk, 2018, Orphanet Journal of Rare Diseases.

Histopathology of Sanfilippo's syndrome.

W. Green, I. Maumenee, K. Kenyon, 1983, Archives of ophthalmology.

Bone marrow transplant in adrenoleukodystrophy

C. L. White, H. Moser, I. Singh, 1984, Neurology.

Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy.

H. Moser, W. Green, S. Cohen, 1983, American journal of ophthalmology.

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.

A. Bird, G. Holder, S. Bhattacharya, 2004, Archives of ophthalmology.

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

B. Lorenz, A. D. den Hollander, F. Cremers, 2003, Investigative ophthalmology & visual science.

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

S. Bhattacharya, S. Daiger, J. Heckenlively, 2000, Molecular genetics and metabolism.

Ocular histopathology of systemic mucopolysaccharidosis, type II-A (Hunter syndrome, severe).

W. Green, I. Maumenee, J. McDonnell, 1985, Ophthalmology.

Pigmented ocular fundus lesions in the inherited gastrointestinal polyposis syndromes and in hereditary nonpolyposis colorectal cancer.

S. Hamilton, F. Giardiello, E. Traboulsi, 1988, Ophthalmology.

Osteogenesis Imperfecta and the Eye

Paul P. Lee, L. Herndon, T. Vajaranant, 2014 .

Comparative data on SD-OCT for the retinal nerve fiber layer and retinal macular thickness in a large cohort with Marfan syndrome

A. Fawzi, M. Durbin, I. Maumenee, 2017, Ophthalmic genetics.

The eye and the chromosome.

I. Maumenee, M. Mets, 1983, Survey of ophthalmology.

Four polymorphic variations in the PEDF gene identified during the mutation screening of patients with Leber congenital amaurosis.

J. Tombran-Tink, R. Koenekoop, I. Maumenee, 1999, Molecular vision.

Pseudoxanthoma elasticum: treatment of gastrointestinal hemorrhage by arterial embolization and observations on autosomal dominant inheritance.

S. Lippman, R. Pyeritz, C. Francomano, 1980, The Johns Hopkins medical journal.

Bardet-Biedl syndrome and related disorders.

A. Schachat, I. Maumenee, 1982, Archives of ophthalmology.

Ocular findings in Cockayne syndrome.

E. Traboulsi, I. Maumenee, I. De Becker, 1992, American journal of ophthalmology.

Niemann-Pick Disease—Type C: Ocular Histopathologic and Electron Microscopic Studies

H. Moser, H. Singer, W. Green, 1985 .

A missense mutation in GUCY2Dacts as a genetic modifier in RPE65-related Leber Congenital Amaurosis

E. Traboulsi, R. Koenekoop, I. Maumenee, 2004 .

A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.

E. Traboulsi, R. Koenekoop, I. Maumenee, 2004, Ophthalmic genetics.

Prevalence of map-dot-fingerprint changes in the cornea.

I. Maumenee, W. Stark, L. Hirst, 1981, The British journal of ophthalmology.

The eye in the Marfan syndrome.

I. Maumenee, 1982, Birth defects original article series.

A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy.

T. Beaty, N. Newman, E. Stone, 2000, American journal of ophthalmology.

Visual prognosis in autosomal dominant optic atrophy (Kjer type).

D. Eliott, E. Traboulsi, I. Maumenee, 1993, American journal of ophthalmology.

Colobomatous malformations of the eye.

I. Maumenee, T. Mitchell, 1990, Transactions of the American Ophthalmological Society.

An unbalanced translocation between chromosomes 2p and 6p associated with Axenfeld–Rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism

D. Batista, Tao Wang, I. Maumenee, 2010, American journal of medical genetics. Part A.

Disk Cupping in Childhood Glaucoma: Reply

H. Quigley, A. Robin, I. Pollack, 1980 .

Morphology, phagocytosis, and vitamin A metabolism of cultured human retinal pigment epithelium.

D. Hu, I. Maumenee, M. D. Del Monte, 1982, Birth defects original article series.

Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.

G. Fishman, H. Ezzeldin, J. Sunness, 2002, Archives of ophthalmology.

A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype.

Y. Li, I. Maumenee, O. Sundin, 2000, Investigative ophthalmology & visual science.

The Marfan syndrome is caused by a point mutation in the fibrillin gene.

I. Maumenee, 1992, Archives of ophthalmology.

Vitreoretinal degeneration as a sign of generalized connective tissue diseases.

I. Maumenee, 1979, American journal of ophthalmology-glaucoma.

An analysis of visual acuity, visual fields, and disk cupping in childhood glaucoma.

H. Quigley, A. Robin, I. Pollack, 1979, American journal of ophthalmology.

Hereditary Fuchs' Dystrophy.

A. E. Maumenee, I. Maumenee, W. Stark, 1980, American journal of ophthalmology.

Topical retinoid treatment for various dry-eye disorders.

S. Tseng, W. Green, A. E. Maumenee, 1985, Ophthalmology.

Anterior segment malformations in 18q- (de Grouchy) syndrome.

E. Traboulsi, I. Maumenee, N. Izquierdo, 1993, Ophthalmic paediatrics and genetics.

Visual outcome after surgery for Peters' anomaly.

E. Traboulsi, I. Maumenee, W. Chamon, 1994, Ophthalmic genetics.

Topical retinoid treatment for various dry-eye disorders.

W. Green, A. E. Maumenee, I. Maumenee, 1989, Ophthalmology (Rochester, Minn.).

Ocular ultrastructural studies of two cases of the Hurler syndrome (systemic mucopolysaccharidosis I-H) *

W. Green, I. Maumenee, G. Sack, 1983 .

Peters' anomaly and associated congenital malformations.

E. Traboulsi, I. Maumenee, 1992, Archives of ophthalmology.

Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A)

M. Iwamoto, W. Green, I. Maumenee, 1990, Graefe's Archive for Clinical and Experimental Ophthalmology.

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.

E. Jabs, I. Maumenee, K. Okajima, 1999, American journal of medical genetics.

Mucolipidosis IV. Histopathology of conjunctiva, cornea, and skin.

W. Green, I. Maumenee, K. Kenyon, 1979, Archives of ophthalmology.

Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses.

E. Traboulsi, I. Maumenee, M. Collins, 1990, Ophthalmology.

Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy).

E. Traboulsi, I. Maumenee, 1986, American journal of ophthalmology.

The Castroviejo square graft.

W. Green, I. Maumenee, W. Stark, 1996, Ophthalmic surgery and lasers.

Congenital motor nystagmus linked to Xq26-q27.

M. Barmada, M. Vagefi, I. Maumenee, 1999, American journal of human genetics.

Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12.

D. Zee, R. Koenekoop, I. Maumenee, 1998, American journal of ophthalmology.

A gene for autosomal dominant congenital nystagmus localizes to 6p12.

M. Barmada, R. Koenekoop, I. Maumenee, 1996, Genomics.

Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts.

I. Maumenee, E. Lovrien, M. A. Lavery, 1990, American journal of medical genetics.

Aniridia with preserved visual function: a report of four cases with no mutations in PAX6.

J. Ellison, J. Sears, E. Traboulsi, 2008, American journal of ophthalmology.

Molecular Genetic Analysis in Autosomal Dominant Keratoconus

E. Puffenberger, Y. Rabinowitz, C. Francomano, 1992, Cornea.

In vitro culture of human retinal pigment epithelium for biochemical and metabolic study

I. Maumenee, M. D. Monte, 1981, Vision Research.

Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases.

I. Maumenee, M. Mets, R. Schroeder, 1987, Archives of ophthalmology.

Bilateral melanosis of the iris.

E. Traboulsi, I. Maumenee, 1987, American journal of ophthalmology.

Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome.

W. Green, D. Eliott, N. Miller, 1998, Archives of ophthalmology.

Periocular pigmentation in the Peutz-Jeghers syndrome.

E. Traboulsi, I. Maumenee, 1986, American journal of ophthalmology.

Iris pigment mosaicism in carriers of X-linked ocular albinism cum pigmento.

A. Maguire, I. Maumenee, 1989, American journal of ophthalmology.

Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1)

R. Giorda, I. Maumenee, A. Drack, 2001, Ophthalmic genetics.

[Possible origins of the gene of Hermansky-Pudlak in Puerto Rico].

M. Royuela, I. Maumenee, N. Izquierdo, 1993, Puerto Rico health sciences journal.

Ophthalmologic manifestations of X-linked childhood adrenoleukodystrophy.

E. Traboulsi, I. Maumenee, 1987, Ophthalmology.

Vitreoretinal degeneration in spondyloepiphyseal dysplasia congenita.

I. Maumenee, S. Hamidi-Toosi, Shakur Hamidi-Toosi, 1982, Archives of ophthalmology.

Genetic basis of total colourblindness among the Pingelapese islanders

I. Maumenee, Eduardo D. Silva, O. Sundin, 2000, Nature Genetics.

Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.

K. Broman, J. Sunness, J. Toy, 2005, Proceedings of the National Academy of Sciences of the United States of America.

Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes.

D. Murphy, S. Antonarakis, A. Reiss, 1992, American journal of medical genetics.

Prevention of Hereditary Eye Disease

I. Maumenee, 1975 .

Galactosylceramide-beta-galactosidase deficiency in association with cherry red spot.

H. Moser, I. Maumenee, D. Wenger, 1988, Neuropediatrics.

Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3.

M. Vagefi, M. Barmada, I. Maumenee, 1999, Archives of ophthalmology.

Linkage analysis in dominant optic atrophy.

J. Kivlin, D. Bishop, I. Maumenee, 1983, American journal of human genetics.

Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease.

S. Antonarakis, P. Diergaarde, I. Maumenee, 1989, American journal of medical genetics.

Genetic origin of mutations predisposing to retinoblastoma.

B. Gallie, W. Cavenee, J. Squire, 1985, Science.

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

T. Strom, J. Veltman, R. Roepman, 2007, Nature Genetics.

A novel locus for Leber congenital amaurosis maps to chromosome 6q.

I. Maumenee, J. Robitaille, A. Baffoe-Bonnie, 2000, American journal of human genetics.

The Natural History of Leber's Congenital Amoaurosis

E. Traboulsi, I. Maumenee, K. Heher, 1992 .

Autosomal dominant congenital cataract associated with chromosomal translocation [t(3;4)(p26.2;p15)].

I. Maumenee, C. Tuck-Muller, P. D. Reese, 1987, Archives of ophthalmology.

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

D. Valle, W. Green, E. Traboulsi, 1992, American journal of ophthalmology.

Immunohistochemical localization of fibrillin in human ocular tissues. Relevance to the Marfan syndrome.

D. Azar, R. Pyeritz, J. Whittum-Hudson, 1995, Archives of ophthalmology.

The Lenz microphthalmia syndrome.

E. Traboulsi, I. Maumenee, W. Lenz, 1988, American journal of ophthalmology.

CRIM1 haploinsufficiency causes defects in eye development in human and mouse.

Thomas Meitinger, Bernd Wollnik, T. Wieland, 2015, Human molecular genetics.

Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations

I. Maumenee, P. Quinn, Sarah R. Levi, 2023, Biomedicines.

Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.

P. Sieving, S. Moroi, M. A. Mandal, 2005, Investigative ophthalmology & visual science.

Genetic and Metabolic Deafness

I. Maumenee, 1977 .

Fundus flavimaculatus without maculopathy. A clinicopathologic study.

J. Kivlin, P. McDonnell, W. Green, 1986, Ophthalmology.

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

J. Hehir-Kwa, T. Meitinger, T. Strom, 2007, Investigative ophthalmology & visual science.

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

M. Mohamed, M. McKibbin, C. Inglehearn, 2003, European Journal of Human Genetics.

Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).

U. Felbor, D. Hunt, A. Gehrig, 1998, Journal of medical genetics.

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

I. Maumenee, J. Abbasian, F. Chau, 2018, Ophthalmic genetics.

Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome

S. Antonarakis, P. C. Huang, I. Maumenee, 1990, Human Genetics.

Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.

C. M. Davenport, P. Gouras, P. Sieving, 1993, American journal of human genetics.

Olivopontocerebellar atrophy with retinal degeneration. A clinical and ocular histopathologic study.

H. Moser, W. Green, E. Traboulsi, 1988, Archives of ophthalmology.

Classification of hereditary cataracts in children by linkage analysis.

I. Maumenee, 1979, Ophthalmology.

Progression of retinopathy in olivopontocerebellar atrophy with retinal degeneration.

E. Traboulsi, I. Maumenee, A. Drack, 1992, Archives of ophthalmology.

Marfan syndrome

D. Milewicz, A. Evangelista, G. Jondeau, 2021, Nature Reviews Disease Primers.

The Wagner syndrome versus hereditary arthroophthalmopathy.

I. Maumenee, M. Mets, H. Stoll, 1982, Transactions of the American Ophthalmological Society.

Corneal tyrosine crystals in transient neonatal tyrosinemia.

E. Jabs, S. Brusilow, D. Driscoll, 1988, The Journal of pediatrics.

A cutaneous marker in the Hunter syndrome a report of four cases.

J. Herndon, I. Maumenee, R. Freeman, 1977, Archives of dermatology.

Cherry red spot in association with galactosylceramide-β-galactosidase deficiency

H. Moser, I. Maumenee, D. Wenger, 1987, Journal of Inherited Metabolic Disease.

Unilateral Isolated Microphthalmia Inherited as an Autosomal Recessive Trait

I. Maumenee, M. Fleckenstein, 2005, Ophthalmic genetics.

Large orbital conjunctival cyst after enucleation.

I. Maumenee, G. Judisch, 1977, American journal of ophthalmology.

Widespread abnormalities of radiocolloid distribution in patients with mycopolysaccharidoses.

I. Maumenee, E. Eikman, W. Klingensmith, 1975, Journal of nuclear medicine : official publication, Society of Nuclear Medicine.

The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.

T. Hirose, D. Meyers, R. Pyeritz, 1987, Genomics.

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.

P. Sieving, N. Nowak, T. Shows, 1999, Genomics.

Spondyloepiphyseal dysplasia congenita. Light and electron microscopic studies of the eye.

W R Green, I H Maumenee, W. Green, 1985, Archives of ophthalmology.

Cataract extraction and intraocular lens implantation in patients with retinitis pigmentosa or Usher's syndrome.

D. Newsome, I. Maumenee, W. Stark, 1986, Archives of ophthalmology.

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

C. M. Davenport, P. Gouras, J. Nathans, 1991, Proceedings of the National Academy of Sciences of the United States of America.

The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen.

T. Hirose, D. Meyers, R. Pyeritz, 1988, Pathology and immunopathology research.

Bilateral symmetry of vision disorders in typical retinitis pigmentosa.

R. Massof, S. J. Starr, J. Fleischman, 1979, The British journal of ophthalmology.

Bilateral symmetry ofvision disorders intypical retinitis pigmentosa

R. Massof, J. Fleischman, I. Maumenee, 1979 .

Autosomal recessive pericentral pigmentary retinopathy.

J. F. O'neill, E. Traboulsi, I. Maumenee, 1988, American journal of ophthalmology.

Gene therapy in patient-specific stem cell lines and a preclinical model of retinitis pigmentosa with membrane frizzled-related protein defects.

S. Tsang, L. Yannuzzi, D. Egli, 2014, Molecular therapy : the journal of the American Society of Gene Therapy.

Strabismus in the Marfan syndrome.

C. Enger, E. Traboulsi, I. Maumenee, 1994, American journal of ophthalmology.

Inheritance of congenital esotropia.

T H Beaty, I H Maumenee, A Alston, 1986, Transactions of the American Ophthalmological Society.

Heterogeneity of retinal degeneration and hearing impairment syndromes.

J. Bateman, I. Maumenee, L. Levin, 1980, American journal of ophthalmology.

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

W. Green, E. Traboulsi, I. Maumenee, 1990, American journal of ophthalmology.

Value of combined phenotypic markers in identifying inheritance of familial adenomatous polyposis.

F. Giardiello, E. Traboulsi, G. Offerhaus, 1991, Gut.

The ateliotic macula: a newly recognized developmental anomaly.

I. Maumenee, M. E. De Pool, H. el-Hileli, 2001, Transactions of the American Ophthalmological Society.

Hereditary pigmented paravenous chorioretinal atrophy.

E. Traboulsi, I. Maumenee, 1986, Archives of ophthalmology.

Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy.

S. Antonarakis, I. Maumenee, E. P. Economou, 1992, American journal of medical genetics.

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

Christie M. Buchovecky, V. Jobanputra, S. Tsang, 2020, Orphanet Journal of Rare Diseases.

The ocular findings in Kniest dysplasia.

E. Traboulsi, I. Maumenee, 1985, American journal of ophthalmology.

Systemic diagnostic testing in patients with apparently isolated uveal coloboma.

Tanya S. Glaser, W. Zein, C. Brewer, 2013, American journal of ophthalmology.

Developmental Basis of Nanophthalmos: MFRP Is Required for both Prenatal Ocular Growth and Postnatal Emmetropization

I. Bhutto, G. Lutty, I. Maumenee, 2008, Ophthalmic genetics.

Gene therapy in patient-specific stem cell lines and mice with membrane frizzled-related protein (MFRP) defects

S. Tsang, L. Yannuzzi, D. Egli, 2014 .

Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.

J. Hurley, V. Ramamurthy, C. Tucker, 2004, Molecular vision.

Photoaversion in Leber's congenital amaurosis.

E. Traboulsi, I. Maumenee, 1995, Ophthalmic genetics.

Genetic eye diseases : retinitis pigmentosa and other inherited eye disorders ; proceedings of the International Symposium on Genetics and Ophthalmology, held in Jerusalem, Israel, September 1981

E. Berman, I. Maumenee, E. Cotlier, 1987 .

Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis

S. Tsang, V. Mahajan, I. Maumenee, 2019, Cold Spring Harbor molecular case studies.

Retinal Disease in Marfan Syndrome: From the Marfan Eye Consortium of Chicago.

A. Fawzi, S. Rahmani, I. Maumenee, 2013, Ophthalmic surgery, lasers & imaging retina.

Posterior Polar Cataract: Genetic Analysis of a Large Family

I. Maumenee, J. Sallum, O. Sundin, 2005, Ophthalmic genetics.

SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies

E. Traboulsi, S. Hagstrom, G. Pauer, 2005, American journal of medical genetics. Part A.

New techniques for in vitro culture of human retinal pigment epithelium

I. Maumenee, M. D. Monte, 1980 .

A G1103R Mutation in CRB1 is Co-Inherited with High Hyperopia and Leber Congenital Amaurosis

I. Maumenee, H. Abouzeid, O. Sundin, 2006, Ophthalmic genetics.

Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome.

S. Hamilton, F. Giardiello, E. Traboulsi, 1987, The New England journal of medicine.

Identification of Novel Mutations in Patients With Leber Congenital Amaurosis by Genome-Wide Homozygosity Mapping With SNP Microarrays

G. Fishman, F. Cremers, S. Yzer, 2007 .

Venous Tortuosity in COL4A2-Associated Gould Syndrome.

I. Maumenee, M. Hirano, Sarah R. Levi, 2023, Ophthalmic surgery, lasers & imaging retina.

RETINAL DETACHMENT IN MARFAN SYNDROME

E. de Juan, I. Barequet, I. Maumenee, 2000, Retina.

Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes.

W. Green, D. Walker, I. Maumenee, 1993, Archives of ophthalmology.

Mutational analysis and clinical correlation in Leber congenital amaurosis

E. Traboulsi, R. Koenekoop, I. Maumenee, 2000, Ophthalmic genetics.

A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility

I. Maumenee, P. Quinn, Peter M. J. Quinn, 2023, Documenta Ophthalmologica.

Marfan syndrome

D. Milewicz, A. Evangelista, G. Jondeau, 2021, Nature Reviews Disease Primers.

Congenital hypertrophy of the retinal pigment epithelium predicts colorectal polyposis in Gardner's syndrome.

R. Burt, F. Giardiello, A. Krush, 1990, Archives of ophthalmology.

Gene therapy in patient-specific stem cell lines and a preclinical model of retinitis pigmentosa with membrane frizzled-related protein defects.

S. Tsang, L. Yannuzzi, D. Egli, 2014, Molecular therapy : the journal of the American Society of Gene Therapy.