Search the collection

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation
Author / Creator:Corral-Serrano, Julio C. ; Lamers, Ideke J. C. ; van Reeuwijk, Jeroen ; Duijkers, Lonneke ; Hoogendoorn, Anita D. M. ; Yildirim, Adem ; Argyrou, Nikoleta ; Ruigrok, Renate A. A. ; Letteboer, Stef J. F. ; Butcher, Rossano ; van Essen, Max D. ; Sakami, Sanae ; van Beersum, Sylvia E. C. ; Palczewski, Krzysztof ; Cheetham, Michael E. ; Liu, Qin ; Boldt, Karsten ; Wolfrum, Uwe ; Ueffing, Marius ; Garanto, Alejandro ; Roepman, Ronald ; Collin, Rob W. J.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2020-05, Vol.117 (18), p.9922-9931
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
PRCD is essential for high-fidelity photoreceptor disc formation
Author / Creator:Spencer, William J. ; Ding, Jin-Dong ; Lewis, Tylor R. ; Yu, Chen ; Phan, Sebastien ; Pearring, Jillian N. ; Kim, Keun-Young ; Thor, Andrea ; Mathew, Rose ; Kalnitsky, Joan ; Hao, Ying ; Travis, Amanda M. ; Biswas, Sondip K. ; Lo, Woo-Kuen ; Besharse, Joseph C. ; Ellisman, Mark H. ; Saban, Daniel R. ; Burns, Marie E. ; Arshavsky, Vadim Y.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2019-06, Vol.116 (26), p.13087-13096
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Functional and pathogenic insights into CNNM4 variants in Jalili syndrome
Author / Creator:Rattanapornsompong, Khanti ; Rinkrathok, Mawika ; Sriwattanapong, Kanokwan ; Shotelersuk, Vorasuk ; Porntaveetus, Thantrira
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-11, Vol.14 (1), p.29091-11, Article 29091
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene
Author / Creator:Skorczyk-Werner, Anna ; Chiang, Wei-Chieh ; Wawrocka, Anna ; Wicher, Katarzyna ; Jarmuż-Szymczak, Małgorzata ; Kostrzewska-Poczekaj, Magdalena ; Jamsheer, Aleksander ; Płoski, Rafał ; Rydzanicz, Małgorzata ; Pojda-Wilczek, Dorota ; Weisschuh, Nicole ; Wissinger, Bernd ; Kohl, Susanne ; Lin, Jonathan H ; Krawczyński, Maciej R
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-11, Vol.25 (11), p.1210-1216
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy
Author / Creator:Lu, Zhaojing ; Hu, Xuebin ; Liu, Fei ; Soares, Dinesh C. ; Liu, Xiliang ; Yu, Shanshan ; Gao, Meng ; Han, Shanshan ; Qin, Yayun ; Li, Chang ; Jiang, Tao ; Luo, Daji ; Guo, An-Yuan ; Tang, Zhaohui ; Liu, Mugen
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-04, Vol.7 (1), p.46098-46098, Article 46098
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
CDHR1 mutations in retinal dystrophies
Author / Creator:Stingl, Katarina ; Mayer, Anja K. ; Llavona, Pablo ; Mulahasanovic, Lejla ; Rudolph, Günther ; Jacobson, Samuel G. ; Zrenner, Eberhart ; Kohl, Susanne ; Wissinger, Bernd ; Weisschuh, Nicole
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-08, Vol.7 (1), p.6992-6992, Article 6992
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
NMNAT1 variants cause cone and cone-rod dystrophy
Author / Creator:Nash, Benjamin M. ; Symes, Richard ; Goel, Himanshu ; Dinger, Marcel E. ; Bennetts, Bruce ; Grigg, John R. ; Jamieson, Robyn V.
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-03, Vol.26 (3), p.428-433
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy
Author / Creator:Kim, Dong Ju ; Woo, Se Joon ; Joo, Kwangsic
Publisher:Basel, Switzerland
Journal title:Ophthalmic research, 2024-01, Vol.67 (1), p.9-22
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families
Author / Creator:Iarossi, Giancarlo ; Marino, Valerio ; Maltese, Paolo Enrico ; Colombo, Leonardo ; D’Esposito, Fabiana ; Manara, Elena ; Dhuli, Kristjana ; Modarelli, Antonio Mattia ; Cennamo, Gilda ; Magli, Adriano ; Dell’Orco, Daniele ; Bertelli, Matteo
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2020-12, Vol.22 (1), p.381
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies
Author / Creator:Mizobuchi, Kei ; Hayashi, Takaaki ; Katagiri, Satoshi ; Yoshitake, Kazutoshi ; Fujinami, Kaoru ; Yang, Lizhu ; Kuniyoshi, Kazuki ; Shinoda, Kei ; Machida, Shigeki ; Kondo, Mineo ; Ueno, Shinji ; Terasaki, Hiroko ; Matsuura, Tomokazu ; Tsunoda, Kazushige ; Iwata, Takeshi ; Nakano, Tadashi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-11, Vol.9 (1), p.16851-9, Article 16851
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
In Silico CRISPR-Cas-Mediated Base Editing Strategies for Early-Onset, Severe Cone–Rod Retinal Degeneration in Three Crumbs homolog 1 Patients, including the Novel Variant c.2833G>A
Author / Creator:Shamsnajafabadi, Hoda ; Kaukonen, Maria ; Bellingrath, Julia-Sophia ; MacLaren, Robert E. ; Cehajic-Kapetanovic, Jasmina
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-05, Vol.15 (5), p.625
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
CDHR1-Related Cone–Rod Dystrophy: Clinical Characteristics, Imaging Findings, and Genetic Test Results—A Case Report
Author / Creator:Sobolewska, Małgorzata ; Świerczyńska, Marta ; Dorecka, Mariola ; Wyględowska-Promieńska, Dorota ; Krawczyński, Maciej R. ; Mrukwa-Kominek, Ewa
Publisher:Switzerland: MDPI AG
Journal title:Medicina (Kaunas, Lithuania), 2023-02, Vol.59 (2), p.399
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss
Author / Creator:Scarpato, Margherita ; Testa, Francesco ; Nesti, Anna ; Zeuli, Roberta ; Boccia, Rosa ; Auletta, Gennaro ; Banfi, Sandro ; Simonelli, Francesca ; Karali, Marianthi
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2025-02, Vol.13 (2), p.e70068-n/a
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations
Author / Creator:Gardner, J C ; Michaelides, M ; Hardcastle, A J
Publisher:South Africa
Journal title:South African medical journal, 2016-05, Vol.106 (6 Suppl 1), p.S75-S78
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
CO 2 /bicarbonate modulates cone photoreceptor ROS-GC1 and restores its CORD6-linked catalytic activity
Author / Creator:Duda, Teresa ; Pertzev, Alexander ; Sharma, Rameshwar K
Publisher:Netherlands
Journal title:Molecular and cellular biochemistry, 2018-11, Vol.448 (1-2), p.91
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Export record to excel

Export this record

Export record to excel

PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation

Export this record

Export record to excel

PRCD is essential for high-fidelity photoreceptor disc formation

Export this record

Export record to excel

Functional and pathogenic insights into CNNM4 variants in Jalili syndrome

Export this record

Export record to excel

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene

Export this record

Export record to excel

Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy

Export this record

Export record to excel

CDHR1 mutations in retinal dystrophies

Export this record

Export record to excel

NMNAT1 variants cause cone and cone-rod dystrophy

Export this record

Export record to excel

Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy

Export this record

Export record to excel

Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families

Export this record

Export record to excel

Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies

Export this record

Export record to excel

In Silico CRISPR-Cas-Mediated Base Editing Strategies for Early-Onset, Severe Cone–Rod Retinal Degeneration in Three Crumbs homolog 1 Patients, including the Novel Variant c.2833G>A

Export this record

Export record to excel

CDHR1-Related Cone–Rod Dystrophy: Clinical Characteristics, Imaging Findings, and Genetic Test Results—A Case Report

Export this record

Export record to excel

A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss

Export this record

Export record to excel

Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations

Export this record

Export record to excel

CO 2 /bicarbonate modulates cone photoreceptor ROS-GC1 and restores its CORD6-linked catalytic activity

Refine your search