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51

Abnormal retinal architecture in a 33-week-old fetus with LCA and a homozygous C330Y mutation in RPE65

Koenekoop, Robert K.

Journal:

Ophthalmic Genetics

Year:

2003

Language:

english

File:

PDF, 39 KB

english, 2003

52

Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy

Roosing, Susanne, van den Born, L. Ingeborgh, Sangermano, Riccardo, Banfi, Sandro, Koenekoop, Robert K., Zonneveld-Vrieling, Marijke N., Klaver, Caroline C.W., van Lith-Verhoeven, Janneke J.C., Cremer

Journal:

Year:

2015

Language:

english

File:

PDF, 1.61 MB

english, 2015

53

Successful RPE65 Gene Replacement and Improved Visual Function in Humans

Koenekoop, Robert K.

Journal:

Ophthalmic Genetics

Year:

2008

Language:

english

File:

PDF, 67 KB

english, 2008

54

Visual improvement in Leber congenital amaurosis and the CRX genotype

Koenekoop, Robert K., Loyer, Magali, Dembinska, Olga, Beneish, Raquel

Journal:

Ophthalmic Genetics

Year:

2002

Language:

english

File:

PDF, 200 KB

english, 2002

55

Is There a Molecular Signalling Pathway Between Photoreceptor Neurons and Müller Glial Cells?

Koenekoop, Robert K.

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 34 KB

english, 2006

56

A Review of Secondary Photoreceptor Degenerations in Systemic Disease

Mysore, N., Koenekoop, J., Li, S., Ren, H., Keser, V., Lopez-Solache, I., Koenekoop, R. K.

Journal:

Cold Spring Harbor Perspectives in Medicine

Year:

2014

Language:

english

File:

PDF, 424 KB

english, 2014

57

Addendum to ABCR is a major retinal gene: a mini review

Koenekoop, Robert K.

Journal:

Ophthalmic Genetics

Year:

2003

Language:

english

File:

PDF, 37 KB

english, 2003

58

One of the genes for Leber congenital amaurosis, AIPL-1, is associated with a cell cycle regulatory protein

Koenekoop, Robert K.

Journal:

Ophthalmic Genetics

Year:

2003

Language:

english

File:

PDF, 37 KB

english, 2003

59

Leber Congenital Amaurosis: Ciliary Proteins on the Move

Koenekoop, Robert K., Cremers, Frans P. M., den Hollander, Anneke I.

Journal:

Ophthalmic Genetics

Year:

2007

Language:

english

File:

PDF, 54 KB

english, 2007

60

A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing

Majewski, J., Wang, Z., Lopez, I., Al Humaid, S., Ren, H., Racine, J., Bazinet, A., Mitchel, G., Braverman, N., Koenekoop, R. K.

Journal:

Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 1.02 MB

english, 2011

61

Next-Generation Sequencing–Based Molecular Diagnosis of a Chinese Patient Cohort With Autosomal Recessive Retinitis Pigmentosa

Fu, Qing, Wang, Feng, Wang, Hui, Xu, Fei, Zaneveld, Jacques E., Ren, Huanan, Keser, Vafa, Lopez, Irma, Tuan, Han-Fang, Salvo, Jason S., Wang, Xia, Zhao, Li, Wang, Keqing, Li, Yumei, Koenekoop, Robert

Journal:

Investigative Ophthalmology & Visual Science

Year:

2013

Language:

english

File:

PDF, 760 KB

english, 2013

62

CYP1B1mutations in patients with primary congenital glaucoma from Saudi Arabia

Badeeb, Osama M, Micheal, Shazia, Koenekoop, Robert K, den Hollander, Anneke I, Hedrawi, Manal T

Journal:

BMC Medical Genetics

Year:

2014

Language:

english

File:

PDF, 189 KB

english, 2014

63

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons

McEwen, D. P., Koenekoop, R. K., Khanna, H., Jenkins, P. M., Lopez, I., Swaroop, A., Martens, J. R.

Journal:

Proceedings of the National Academy of Sciences

Year:

2007

Language:

english

File:

PDF, 887 KB

english, 2007

64

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein

Chakarova, C. F., Khanna, H., Shah, A. Z., Patil, S. B., Sedmak, T., Murga-Zamalloa, C. A., Papaioannou, M. G., Nagel-Wolfrum, K., Lopez, I., Munro, P., Cheetham, M., Koenekoop, R. K., Rios, R. M., Ma

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 662 KB

english, 2011

65

Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles

Zernant, Jana, Ku¨lm, Maigi, Dharmaraj, Sharola, den Hollander, Anneke I., Perrault, Isabelle, Preising, Markus N., Lorenz, Birgit, Kaplan, Josseline, Cremers, Frans P. M., Maumenee, Irene, Koenekoop,

Journal:

Investigative Ophthalmology & Visual Science

Year:

2005

Language:

english

File:

PDF, 149 KB

english, 2005

66

Expression of PRPF31 and TFPT: regulation in health and retinal disease

Rose, A. M., Shah, A. Z., Waseem, N. H., Chakarova, C. F., Alfano, G., Coussa, R. G., Ajlan, R., Koenekoop, R. K., Bhattacharya, S. S.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 424 KB

english, 2012

67

Sa1955 Vitamin D Supplementation Inhibits Colon Cancer in a Murine Model of Colitis

Seidman, Ernest G., Elimrani, Ihsan, Koenekoop, Jamie, Dionne, Serge, Delvin, Edgard

Journal:

Gastroenterology

Year:

2015

Language:

english

File:

PDF, 308 KB

english, 2015

68

A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: A clinical and genetic study

Dubé, P., Der Kaloustian, V.M., Demczuk, S., Saabti, H., Koenekoop, R.K.

Journal:

Ophthalmic Genetics

Year:

2000

Language:

english

File:

PDF, 150 KB

english, 2000

69

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

Nishiguchi, K. M., Tearle, R. G., Liu, Y. P., Oh, E. C., Miyake, N., Benaglio, P., Harper, S., Koskiniemi-Kuendig, H., Venturini, G., Sharon, D., Koenekoop, R. K., Nakamura, M., Kondo, M., Ueno, S., Y

Journal:

Proceedings of the National Academy of Sciences

Year:

2013

Language:

english

File:

PDF, 6.11 MB

english, 2013

70

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

Silva, Eduardo, Dharmaraj, Sharola, Li, Ying Ying, Pina, Ana Luisa, Carter, Robert Colin, Loyer, Magali, Traboulsi, Elias, Theodossiadis, George, Koenekoop, Robert, Sundin, Olof, Maumenee, Irene

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 253 KB

english, 2004

71

Abstracts

Koenekoop, Robert

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 50 KB

english, 2004

72

Photoreceptor Gene RPGRIP1 Replacement Rescues Blind Mice

Koenekoop, Robert K.

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 46 KB

english, 2006

73

Retinal Architecture, Retinal Function and Extracellular Protein of Retinoschisis Mouse Model Are Rescued by Gene Therapy

Koenekoop, Robert K.

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 35 KB

english, 2006

74

Why do Cone Photoreceptors Die in Rod-Specific Forms of Retinal Degenerations?

Koenekoop, Robert K.

Journal:

Ophthalmic Genetics

Year:

2009

Language:

english

File:

PDF, 89 KB

english, 2009

75

Why Some Photoreceptors Die, While Others Remain Dormant: Lessons From RPE65 and LRAT Associated Retinal Dystrophies

Koenekoop, Robert K.

Journal:

Ophthalmic Genetics

Year:

2011

Language:

english

File:

PDF, 509 KB

english, 2011

76

Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies

Asai-Coakwell, M., March, L., Dai, X. H., DuVal, M., Lopez, I., French, C. R., Famulski, J., De Baere, E., Francis, P. J., Sundaresan, P., Sauve, Y., Koenekoop, R. K., Berry, F. B., Allison, W. T., Wa

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 1.01 MB

english, 2013

77

BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

Estrada-Cuzcano, Alejandro, Koenekoop, Robert K., Senechal, Audrey, De Baere, Elfride B. W., de Ravel, Thomy, Banfi, Sandro, Kohl, Susanne, Ayuso, Carmen, Sharon, Dror, Hoyng, Carel B., Hamel, Christi

Journal:

Archives of Ophthalmology

Year:

2012

Language:

english

File:

PDF, 257 KB

english, 2012

78

Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1

Soens, Zachry T., Li, Yuanyuan, Zhao, Li, Eblimit, Aiden, Dharmat, Rachayata, Li, Yumei, Chen, Yiyun, Naqeeb, Mohammed, Fajardo, Norma, Lopez, Irma, Sun, Zhaoxia, Koenekoop, Robert K., Chen, Rui

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 4.09 MB

english, 2016

79

SPATA7 : Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa

Matsui, Rodrigo, McGuigan III, David B., Gruzensky, Michaela L., Aleman, Tomas S., Schwartz, Sharon B., Sumaroka, Alexander, Koenekoop, Robert K., Cideciyan, Artur V., Jacobson, Samuel G.

Journal:

Ophthalmic Genetics

Year:

2016

Language:

english

File:

PDF, 1.69 MB

english, 2016

80

Witnessing the first sign of retinitis pigmentosa onset in the allegedly normal eye of a case of unilateral RP: a 30-year follow-up

Gauvin, Mathieu, Chakor, Hadi, Koenekoop, R. K., Little, J. M., Lina, Jean-Marc, Lachapelle, Pierre

Journal:

Documenta Ophthalmologica

Year:

2016

Language:

english

File:

PDF, 3.10 MB

english, 2016

81

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa

Xu, Mingchu, Yamada, Takeyuki, Sun, Zixi, Eblimit, Aiden, Lopez, Irma, Wang, Feng, Manya, Hiroshi, Xu, Shan, Zhao, Li, Li, Yumei, Kimchi, Adva, Sharon, Dror, Sui, Ruifang, Endo, Tamao, Koenekoop, Robe

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 656 KB

english, 2016

82

JNK Pathway Implicated in Retinitis Pigmentosa

Koenekoop, Robert K.

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 203 KB

english, 2006

83

Genetics, phenotypes, mechanisms and treatments for Leber congenital amaurosis: a paradigm shift

Koenekoop, Robert K, Lopez, Irma, Allikmets, Rando, Cremers, Frans PM, den Hollander, Anneke I

Journal:

Expert Review of Ophthalmology

Year:

2008

Language:

english

File:

PDF, 754 KB

english, 2008

84

Pediatric Cataract Surgery

Wilson,, M. Edward, Koenekoop, Robert

Journal:

Techniques in Ophthalmology

Year:

2003

Language:

english

File:

PDF, 702 KB

english, 2003

85

Clinician's Corner

Nischal, Kenneth K., Koenekoop, Robert

Journal:

Techniques in Ophthalmology

Year:

2003

Language:

english

File:

PDF, 894 KB

english, 2003

86

Author reply

Journal:

American Journal of Ophthalmology

Year:

2004

Language:

english

File:

PDF, 45 KB

english, 2004

87

Ocular Findings in a Family With Sotos Syndrome (Cerebral Gigantism)

Koenekoop, Robert K., Rosenbaum, Kenneth N., Traboulsi, Elias I.

Journal:

American Journal of Ophthalmology

Year:

1995

Language:

english

File:

PDF, 374 KB

english, 1995

88

Erratum to: Witnessing the first sign of retinitis pigmentosa onset in the allegedly normal eye of a case of unilateral RP: a 30-year follow-up

Gauvin, Mathieu, Chakor, Hadi, Koenekoop, Robert K., Little, John M., Lina, Jean-Marc, Lachapelle, Pierre

Journal:

Documenta Ophthalmologica

Year:

2016

Language:

english

File:

PDF, 289 KB

english, 2016

89

P-190 Use of a Novel Activation Assay to Detect Increased Flagellin-Reactive CD4+ T cells in Peripheral Blood from Crohnʼs Disease Patients

Rosa, Garcia, Megan, Himmel, Jamie, Koenekoop, Ernest, Seidman, Megan, Levings, Theodore, Steiner

Journal:

Inflammatory Bowel Diseases

Year:

2013

Language:

english

File:

PDF, 61 KB

english, 2013

90

Cannibalism among Aedes triseriatus larvae

KOENEKOOP, ROBERT K., LIVDAHL, TODD P.

Journal:

Ecological Entomology

Year:

1986

Language:

english

File:

PDF, 301 KB

english, 1986

91

A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration

Lorés-Motta, Laura, van Asten, Freekje, Muether, Philipp S., Smailhodzic, Dzenita, Groenewoud, Joannes M., Omar, Amer, Chen, John, Koenekoop, Robert K., Fauser, Sascha, Hoyng, Carel B., den Hollander,

Journal:

Pharmacogenetics and Genomics

Year:

2016

Language:

english

File:

PDF, 253 KB

english, 2016

92

Orbital cellulitis and multiple abscess formation after strabismus surgery

Mikhail, Mikel, Koenekoop, Robert K., Khan, Ayesha

Journal:

Canadian Journal of Ophthalmology / Journal Canadien d'Ophtalmologie

Year:

2016

Language:

english

File:

PDF, 279 KB

english, 2016

93

Delayed vitreous haemorrhage after paediatric cataract surgery in Lowe syndrome

Mikhail, M, Modabber, M, Koenekoop, R K, Braverman, N, Khan, A

Journal:

Year:

2016

Language:

english

File:

PDF, 110 KB

english, 2016

94

GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration

Riaz, Moeen, Lorés-Motta, Laura, Richardson, Andrea J., Lu, Yi, Montgomery, Grant, Omar, Amer, Koenekoop, Robert K., Chen, John, Muether, Philipp, Altay, Lebriz, Schick, Tina, Fauser, Sascha, Smailhod

Journal:

Scientific Reports

Year:

2016

Language:

english

File:

PDF, 579 KB

english, 2016

95

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

Ebermann, Inga, Phillips, Jennifer B, Liebau, Max C, Koenekoop, Robert K, Schermer, Bernhard, Lopez, Irma, Schäfer, Ellen, Roux, Anne-francoise, Dafinger, Claudia, Bernd, Antje, Zrenner, Eberhart, Cla

Journal:

Journal of Clinical Investigation

Year:

2010

Language:

english

File:

PDF, 3.31 MB

english, 2010

96

Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee

Coussa, Razek Georges, Lopez Solache, Irma, Koenekoop, Robert K.

Journal:

Ophthalmic Genetics

Year:

2017

Language:

english

File:

PDF, 970 KB

english, 2017

97

Visual Acuity Changes in Patients With Leber Congenital Amaurosis and Mutations in CEP290

McAnany, J. Jason, Genead, Mohamed A., Walia, Saloni, Drack, Arlene V., Stone, Edwin M., Koenekoop, Robert K., Traboulsi, Elias I., Smith, Alison, Weleber, Richard G., Jacobson, Samuel G., Fishman, Ge

Journal:

JAMA Ophthalmology

Year:

2013

Language:

english

File:

PDF, 338 KB

english, 2013

98

Revisiting Congenital Stationary Night Blindness in the Molecular Era

Koenekoop, Robert K.

Journal:

JAMA Ophthalmology

Year:

2018

Language:

english

File:

PDF, 104 KB

english, 2018

99

The effects of the age of onset of strabismus on monocular and binocular visual function in genetically identical twins

Cadet, Nicolas, Huang, Pi-Chun, Superstein, Rosanne, Koenekoop, Robert, Hess, Robert F.

Journal:

Canadian Journal of Ophthalmology / Journal Canadien d'Ophtalmologie

Year:

2018

Language:

english

File:

PDF, 648 KB

english, 2018

100

A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis

Ibrahim, M. T., Alarcon-Martinez, T., Lopez, I., Fajardo, N., Chiang, J., Koenekoop, R. K.

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 3.09 MB

english, 2018