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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

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 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 June 2013

Comparison of human and murine ocular findings in the Knobloch syndrome caused by mutations in COL18A1

Behrad Milani; Stephen Tsang; Irene Maumenee

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1341. doi:

ARVO Annual Meeting Abstract June 2013

Biometric characteristics of the Marfan eye: From the Marfan Eye Consortium of Chicago

Sarah Wehrli; Marilyn Mets; Iris Kassem; Amani Fawzi; Nathalie Azar; Irene Maumenee

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):5709. doi:

ARVO Annual Meeting Abstract June 2013

Ultra-widefield retinal imaging documentation and analysis of peripheral retinal disease in Marfan syndrome: From the Marfan Eye Consortium of Chicago

Safa Rahmani; Amani Fawzi; Alice Lyon; Irene Maumenee; Marilyn Mets

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):5845. doi:

ARVO Annual Meeting Abstract June 2013

Macular and Optic Nerve Optical Coherence Tomography in Marfan Patients: from the Marfan Eye Consortium of Chicago

WanWan Xu; Sudhi Kurup; Amani Fawzi; Mary Durbin; Irene Maumenee; Marilyn Mets

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):5851. 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:

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:

Retina February 2011

IQCB1 Mutations in Patients with Leber Congenital Amaurosis

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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: leber's amaurosis, mutation, medullary cystic disease
Invest. Ophthalmol. Vis. Sci.. 2011; 52(2):834-839. doi: https://doi.org/10.1167/iovs.10-5221

ARVO Annual Meeting Abstract April 2010

Nphp5 Mutations in Patients With Leber Congenital Amaurosis

A. Estrada Cuzcano; R. K. Koenekoop; S. Kohl; K. Rohrschneider; I. H. Maumenee; S. G. Jacobson; C. B. Hoyng; E. Zrenner; F. P. M. Cremers; A. I. den Hollander

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):2578. doi:

ARVO Annual Meeting Abstract April 2010

Leber Congenital Amaurosis (LCA) on Puerto Rico and the Virgin Islands: A Genetic Study

I. H. Maumenee; N. J. Izquierdo; V. M. Villegas; R. K. Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):2580. doi:

ARVO Annual Meeting Abstract April 2009

Phenotypic Analyses of Leber Congenital Amaurosis Patients Caused by LCA5 Mutations

R. K. Koenekoop; A. den Hollander; H. Khan; I. Lopez; Y. Shen; M. Zonneveld; I. Maumenee; R. Roepman; F. P. M. Cremers

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):6275. doi:

ARVO Annual Meeting Abstract April 2009

Leber Congenital Amaurosis in Puerto Rico and the United States Virgin Islands: Ascertainment, Genotype-phenotype Correlation and GIS Technology

I. H. Maumenee; V. M. Villegas; N. J. Izquierdo

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):5340. doi:

ARVO Annual Meeting Abstract May 2008

Leber Congenital Amaurosis (LCA) Patients With Possible Mutations in Two Ciliary Genes: CEP290 and RPGRIP1. Does Oligogenic Inheritance Exist in LCA?

R. K. Koenekoop; G. A. Fishman; L. Bou-Khzam; F. Al-Wadaani; M. Musarella; I. Maumenee; R. Roepman; I. Lopez; A. den Hollander

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):1686. doi:

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Ocular Findings in Osteogenesis Imperfecta: An Ophthalmologist Eye Survey

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

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

Mutation Analysis In Eight Families With Congenital Motor Nystagmus.

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

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

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

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

Comparison of human and murine ocular findings in the Knobloch syndrome caused by mutations in COL18A1

Biometric characteristics of the Marfan eye: From the Marfan Eye Consortium of Chicago

Ultra-widefield retinal imaging documentation and analysis of peripheral retinal disease in Marfan syndrome: From the Marfan Eye Consortium of Chicago

Macular and Optic Nerve Optical Coherence Tomography in Marfan Patients: from the Marfan Eye Consortium of Chicago

Mendelian Inheritance of Strabismus in a Rural Community of Northern Iran

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

IQCB1 Mutations in Patients with Leber Congenital Amaurosis

Nphp5 Mutations in Patients With Leber Congenital Amaurosis

Leber Congenital Amaurosis (LCA) on Puerto Rico and the Virgin Islands: A Genetic Study

Phenotypic Analyses of Leber Congenital Amaurosis Patients Caused by LCA5 Mutations

Leber Congenital Amaurosis in Puerto Rico and the United States Virgin Islands: Ascertainment, Genotype-phenotype Correlation and GIS Technology

Leber Congenital Amaurosis (LCA) Patients With Possible Mutations in Two Ciliary Genes: CEP290 and RPGRIP1. Does Oligogenic Inheritance Exist in LCA?

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