U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 36

1.
Foveal Hypoplasia in CRB1-Related Retinopathies
Ana Catalina Rodriguez-Martinez, Bethany Elora Higgins, Vijay Tailor-Hamblin, Samantha Malka, Riccardo Cheloni, Alexander Mark Collins, John Bladen, Robert Henderson, Mariya Moosajee
Int J Mol Sci. 2023 Sep; 24(18): 13932. Published online 2023 Sep 11. doi: 10.3390/ijms241813932
PMCID:
PMC10531165
ArticlePDF–1.4M
2.
Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases
Maddalen Zufiaurre-Seijo, José García-Arumí, Anna Duarri
Int J Mol Sci. 2023 Jul; 24(13): 10670. Published online 2023 Jun 26. doi: 10.3390/ijms241310670
PMCID:
PMC10341768
ArticlePDF–1.1M
3.
A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response
Pei-Kang Liu, Joseph Ryu, Lung-Kun Yeh, Kuan-Jen Chen, Stephen H. Tsang, Laura Liu, Nan-Kai Wang
Ophthalmic Genet. Author manuscript; available in PMC 2023 Jun 1.
Published in final edited form as: Ophthalmic Genet. 2021 Aug; 42(4): 458–463. Published online 2021 May 7. doi: 10.1080/13816810.2021.1920039
PMCID:
PMC10234695
ArticlePDF–1.3M
4.
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort
Ditta Zobor, Britta Brühwiler, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl
Int J Mol Sci. 2023 May; 24(10): 8915. Published online 2023 May 17. doi: 10.3390/ijms24108915
PMCID:
PMC10219005
ArticlePDF–5.1M
5.
Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans
Dong Geun Kim, Kwangsic Joo, Jinu Han, Mihyun Choi, Seong-Woo Kim, Kyu Hyung Park, Sang Jun Park, Christopher Seungkyu Lee, Suk Ho Byeon, Se Joon Woo
Genes (Basel) 2023 May; 14(5): 1057. Published online 2023 May 8. doi: 10.3390/genes14051057
PMCID:
PMC10218017
ArticlePDF–3.7M
6.
Structural and Pathogenic Impacts of ABCA4 Variants in Retinal Degenerations—An In-Silico Study
Senem Cevik, Subhasis B. Biswas, Esther E. Biswas-Fiss
Int J Mol Sci. 2023 Apr; 24(8): 7280. Published online 2023 Apr 14. doi: 10.3390/ijms24087280
PMCID:
PMC10138569
ArticlePDF–3.7M
7.
Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy
Vlasta Hadalin, Maša Buscarino, Jana Sajovic, Andrej Meglič, Martina Jarc-Vidmar, Marko Hawlina, Marija Volk, Ana Fakin
Int J Mol Sci. 2023 Feb; 24(4): 3840. Published online 2023 Feb 14. doi: 10.3390/ijms24043840
PMCID:
PMC9958649
ArticlePDF–8.7M
8.
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy
Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B. Haack, Saskia Biskup, Susanne Kohl, Laura Kühlewein, Daniele Dell’Orco, Nicole Weisschuh
Int J Mol Sci. 2023 Feb; 24(3): 2709. Published online 2023 Jan 31. doi: 10.3390/ijms24032709
PMCID:
PMC9916573
ArticlePDF–8.7M
9.
Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease
Jana Sajovic, Andrej Meglič, Marko Hawlina, Ana Fakin
Int J Mol Sci. 2022 Dec; 23(24): 16161. Published online 2022 Dec 18. doi: 10.3390/ijms232416161
PMCID:
PMC9783580
ArticlePDF–2.3M
10.
Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy
Junwen Wang, Yingwei Wang, Shiqiang Li, Xueshan Xiao, Zhen Yi, Yi Jiang, Xueqing Li, Xiaoyun Jia, Panfeng Wang, Chenjin Jin, Wenmin Sun, Qingjiong Zhang
Invest Ophthalmol Vis Sci. 2022 Aug; 63(9): 24. Published online 2022 Aug 22. doi: 10.1167/iovs.63.9.24
PMCID:
PMC9419460
ArticlePDF–4.8M
11.
Clinical exome sequencing for inherited retinal degenerations at a tertiary care center
Mythily Ganapathi, Amanda Thomas-Wilson, Christie Buchovecky, Avinash Dharmadhikari, Subit Barua, Winston Lee, Merry Z. C. Ruan, Megan Soucy, Sara Ragi, Joy Tanaka, Lorraine N. Clark, Ali B. Naini, Jun Liao, Mahesh Mansukhani, Stephen Tsang, Vaidehi Jobanputra
Sci Rep. 2022; 12: 9358. Published online 2022 Jun 7. doi: 10.1038/s41598-022-13026-2
PMCID:
PMC9174483
ArticlePDF–969K
12.
Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec
Krunoslav Stingl, Melanie Kempf, Karl U Bartz-Schmidt, Spyridon Dimopoulos, Felix Reichel, Ronja Jung, Carina Kelbsch, Susanne Kohl, Friederike Charlotte Kortüm, Fadi Nasser, Tobias Peters, Barbara Wilhelm, Bernd Wissinger, Fabian Wozar, Eberhart Zrenner, M Dominik Fischer, Katarina Stingl
Br J Ophthalmol. 2022 Jun; 106(6): 831–838. Published online 2021 Jan 20. doi: 10.1136/bjophthalmol-2020-318286
PMCID:
PMC9132865
ArticlePDF–6.4M
13.
CNGB1‐related rod‐cone dystrophy: A mutation review and update
Marco Nassisi, Vasily M. Smirnov, Cyntia Solis Hernandez, Saddek Mohand‐Saïd, Christel Condroyer, Aline Antonio, Laura Kühlewein, Melanie Kempf, Susanne Kohl, Bernd Wissinger, Fadi Nasser, Sara D. Ragi, Nan‐Kai Wang, Janet R. Sparrow, Vivienne C. Greenstein, Stylianos Michalakis, Omar A. Mahroo, Rola Ba‐Abbad, Michel Michaelides, Andrew R. Webster, Simona Degli Esposti, Brooke Saffren, Jenina Capasso, Alex Levin, William W. Hauswirth, Claire‐Marie Dhaenens, Sabine Defoort‐Dhellemmes, Stephen H. Tsang, Eberhart Zrenner, Jose‐Alain Sahel, Simon M. Petersen‐Jones, Christina Zeitz, Isabelle Audo
Hum Mutat. 2021 Jun; 42(6): 641–666. Published online 2021 May 16. doi: 10.1002/humu.24205
PMCID:
PMC8218941
ArticlePDF–2.4M
14.
RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features
Xuan-Thanh-An Nguyen, Mays Talib, Mary J. van Schooneveld, Joost Brinks, Jacoline ten Brink, Ralph J. Florijn, Jan Wijnholds, Robert M. Verdijk, Arthur A. Bergen, Camiel J.F. Boon
Int J Mol Sci. 2020 Feb; 21(3): 835. Published online 2020 Jan 28. doi: 10.3390/ijms21030835
PMCID:
PMC7038140
ArticlePDF–2.1M
15.
Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B
Samer Khateb, Marco Nassisi, Kinga M. Bujakowska, Cécile Méjécase, Christel Condroyer, Aline Antonio, Marine Foussard, Vanessa Démontant, Saddek Mohand-Saïd, José-Alain Sahel, Christina Zeitz, Isabelle Audo
JAMA Ophthalmol. 2019 Jun; 137(6): 669–679. Published online 2019 Apr 18. doi: 10.1001/jamaophthalmol.2018.6367
PMCID:
PMC6567841
Article
16.
Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy
Emmanuelle Souzeau, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Christopher P. Barnett, Tina M. Lamey, Jamie E. Craig
Mol Vis. 2018; 24: 478–484. Published online 2018 Jul 21.
PMCID:
PMC6066270
ArticlePDF–897K
17.
A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report
Elena Buena-Atienza, Fadi Nasser, Susanne Kohl, Bernd Wissinger
BMC Med Genet. 2018; 19: 107. Published online 2018 Jun 26. doi: 10.1186/s12881-018-0623-8
PMCID:
PMC6019650
ArticlePDF–1.9M
18.
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy
Anna Wawrocka, Anna Skorczyk-Werner, Katarzyna Wicher, Zuzanna Niedziela, Rafal Ploski, Malgorzata Rydzanicz, Maciej Sykulski, Jaroslaw Kociecki, Nicole Weisschuh, Susanne Kohl, Saskia Biskup, Bernd Wissinger, Maciej R. Krawczynski
Mol Vis. 2018; 24: 326–339. Published online 2018 Apr 26.
PMCID:
PMC5937672
ArticlePDF–1.7M
19.
Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants
Satoshi Katagiri, Katsuhiro Hosono, Takaaki Hayashi, Kentaro Kurata, Kei Mizobuchi, Tomokazu Matsuura, Kazutoshi Yoshitake, Takeshi Iwata, Tadashi Nakano, Yoshihiro Hotta
Mol Vis. 2018; 24: 286–296. Published online 2018 Apr 9.
PMCID:
PMC5893010
ArticlePDF–3.9M
20.
Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation
Salvador López-Rubio, Oscar F. Chacon-Camacho, Rodrigo Matsui, Dalia Guadarrama-Vallejo, Mirena C. Astiazarán, Juan C. Zenteno
Mol Vis. 2018; 24: 105–114. Published online 2018 Feb 1.
PMCID:
PMC5800431
ArticlePDF–1.7M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center