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Meeting Abstract (10)
Journal Articles (5)

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Investigative Ophthalmology & Visual Science (15)

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ARVO Annual Meeting Abstract (10)
Retina (4)
Biochemistry and Molecular Biology (1)

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Retina (5)
Genetics (4)
Eye Anatomy and Disorders (3)
Biochemistry and Molecular Biology (2)
Glaucoma (1)
Imaging (1)
Lens (1)
Multidisciplinary Ophthalmic Imaging (1)
Surgery (1)
Vitreous Disorders (1)

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mutation (4)
leber's amaurosis (3)
apposition (1)
body tissue (1)
child (1)
diffusion (1)
eye (1)
family (1)
fluorescein (1)
fluorophotometry (1)

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ARVO Annual Meeting Abstract July 2018

Ocular Findings in Osteogenesis Imperfecta: An Ophthalmologist Eye Survey

Felix Chau; Victor Villegas; Thasarat S Vajaranant; Irene H Maumenee

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):177. doi:

ARVO Annual Meeting Abstract July 2018

Building Blocks of an Ophthalmic Genetics Center: from Clinical Diagnosis to Future Gene Therapy

Irene H Maumenee

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3489. doi:

ARVO Annual Meeting Abstract September 2016

Novel Forkhead Box C1 Gene Mutation with Significant Postnatal Iris Growth and Modulation in a Child with Anterior Segment Dysgenesis

Merina Thomas; Behrad Y Milani; Irene H Maumenee; Javaneh Abbasian

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):797. doi:

ARVO Annual Meeting Abstract June 2015

Mutation Analysis In Eight Families With Congenital Motor Nystagmus.

Behrad Yousefi Milani; Ankur Naqib; Stefan Joshua Green; Irene H Maumenee

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5995. doi:

ARVO Annual Meeting Abstract April 2014

A Rare Syndrome: Hypotrichosis with Juvenile Macular Dystrophy (HJMD)

Maya Bitar; Behrad Yousefi Milani; Renan Ferreira Oliveira; Nathalie F Azar; Juliana Ferraz Sallum; Irene H Maumenee

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6424. doi:

ARVO Annual Meeting Abstract April 2014

Mutation identification in the family with autosomal recessive encephalocele and retinal detachments originally described by Knobloch.

Behrad Yousefi Milani; C Summers; Irene H Maumenee

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6434. doi:

ARVO Annual Meeting Abstract April 2014

Gene therapy on patient-specific stem cell lines with MFRP defect

Yao Li; Wen-Hsuan Wu; Yi-Ting Tsai; Haiqing Hua; Takayuki Nagasaki; Irene H Maumenee; Lawrence A Yannuzzi; Quan V Hoang; Dieter Egli; Stephen H Tsang

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):834. doi:

ARVO Annual Meeting Abstract April 2014

Exogenous COL18A1 Restores Retinal Function in a Patient Specific Model of Knobloch Syndrome

Huy V. Nguyen; Yao Li; Irene H Maumenee; Stephen H Tsang

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):2982. doi:

ARVO Annual Meeting Abstract April 2011

Natural History, Genotype-Phenotype Correlation and Differential Diagnosis of the Brittle Cornea Syndrome

Irene H. Maumenee; Abdulmunim F. Alharbi; Fatoumata Yanoga; Nathalie F. Azar

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):2397. doi:

ARVO Annual Meeting Abstract April 2011

Mendelian Inheritance of Strabismus in a Rural Community of Northern Iran

Jieun Kwak; Asadolah Movahedan; Peyman Tadjvidi; Parisa Aref; Irene H. Maumenee

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):6359. doi:

Retina February 2011

IQCB1 Mutations in Patients with Leber Congenital Amaurosis

PDF

Alejandro Estrada-Cuzcano; Robert K. Koenekoop; Frauke Coppieters; Susanne Kohl; Irma Lopez; Rob W. J. Collin; Elfride B. W. De Baere; Debbie Roeleveld; Jonah Marek; Antje Bernd; Klaus Rohrschneider; L. Ingeborgh van den Born; Françoise Meire; Irene H. Maumenee; Samuel G. Jacobson; Carel B. Hoyng; Eberhart Zrenner; Frans P. M. Cremers; Anneke I. den Hollander
TAGS: mutation, medullary cystic disease, leber's amaurosis
Invest. Ophthalmol. Vis. Sci.. 2011; 52(2):834-839. doi: 10.1167/iovs.10-5221

Retina December 2007

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

PDF

Anneke I. den Hollander; Irma Lopez; Suzanne Yzer; Marijke N. Zonneveld; Irene M. Janssen; Tim M. Strom; Jayne Y. Hehir-Kwa; Joris A. Veltman; Maarten L. Arends; Thomas Meitinger; Maria A. Musarella; L. Ingeborgh van den Born; Gerald A. Fishman; Irene H. Maumenee; Klaus Rohrschneider; Frans P. M. Cremers; Robert K. Koenekoop
TAGS: mutation, child, genes, genome, homozygote, single nucleotide polymorphism, leber's amaurosis
Invest. Ophthalmol. Vis. Sci.. 2007; 48(12):5690-5698. doi: 10.1167/iovs.07-0610

Retina October 2006

Delivery from Episcleral Exoplants

PDF

Ricardo A. Pontes de Carvalho; Melissa L. Krausse; A. Linn Murphree; Edward E. Schmitt; Peter A. Campochiaro; Irene H. Maumenee
TAGS: diffusion, fluorescein, fluorophotometry, injection of therapeutic agent, muscle rigidity, plasma, silicones, sutures, vitreous body, eye, retina, sclera, mass or substance concentration per volume, apposition
Invest. Ophthalmol. Vis. Sci.. 2006; 47(10):4532-4539. doi: 10.1167/iovs.06-0030

Retina September 2005

Late-Onset Macular Degeneration and Long Anterior Lens Zonules Result from a CTRP5 Gene Mutation

PDF

Radha Ayyagari; Md Nawajes A. Mandal; Athanasios J. Karoukis; Lianchun Chen; Ning C. McLaren; Mona Lichter; David T. Wong; Peter F. Hitchcock; Rafael C. Caruso; Sayoko E. Moroi; Irene H. Maumenee; Paul A. Sieving
TAGS: mutation, family, lens, crystalline, lens (device), body tissue, macular degeneration
Invest. Ophthalmol. Vis. Sci.. 2005; 46(9):3363-3371. doi: 10.1167/iovs.05-0159

Biochemistry and Molecular Biology July 2000

A CRX Null Mutation Is Associated with Both Leber Congenital Amaurosis and a Normal Ocular Phenotype

PDF

Eduardo Silva; Jun-Ming Yang; Yingying Li; Sharola Dharmaraj; Olof H. Sundin; Irene H. Maumenee
TAGS: phenotype, mutation, leber's amaurosis
Invest. Ophthalmol. Vis. Sci.. 2000; 41(8):2076-2079. doi:

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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