PubMed (GeneRIF) for id: 92211

Year	Number of Results
2005	2
2006	1
2010	2
2012	2
2013	1
2015	1
2016	1
2017	2
2018	2
2019	1
2020	2
2021	3
2022	1
2024	0

1

Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.

Malechka VV, Cukras CA, Chew EY, Sergeev YV, Blain D, Jeffrey BG, Ullah E, Hufnagel RB, Brooks BP, Huryn LA, Zein WM. Malechka VV, et al. Genes (Basel). 2022 May 22;13(5):925. doi: 10.3390/genes13050925. Genes (Basel). 2022. PMID: 35627310 Free PMC article.

2

A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy.

Mermeklieva E, Kamenarova K, Mihova K, Shakola F, Kaneva R. Mermeklieva E, et al. Ophthalmic Genet. 2021 Dec;42(6):747-752. doi: 10.1080/13816810.2021.1946700. Epub 2021 Jul 6. Ophthalmic Genet. 2021. PMID: 34229535

3

Deep phenotyping of the Cdhr1^-/- mouse validates its use in pre-clinical studies for human CDHR1-associated retinal degeneration.

Yusuf IH, McClements ME, MacLaren RE, Charbel Issa P. Yusuf IH, et al. Exp Eye Res. 2021 Jul;208:108603. doi: 10.1016/j.exer.2021.108603. Epub 2021 May 6. Exp Eye Res. 2021. PMID: 33964272

4

A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy.

Ba-Abbad R, Robson AG, Mahroo OA, Wright G, Schiff E, Duignan ES, Michaelides M, Arno G, Webster AR. Ba-Abbad R, et al. Eye (Lond). 2021 May;35(5):1482-1489. doi: 10.1038/s41433-020-1045-3. Epub 2020 Jul 17. Eye (Lond). 2021. PMID: 32681094 Free PMC article.

5

Identification of a novel homozygous nonsense mutation in the CDHR1 gene in a Chinese family with autosomal recessive retinitis pigmentosa.

Gan L, Yang C, Shu Y, Liu F, Sun R, Deng B, Xu J, Huang G, Qu C, Gong B, Li J. Gan L, et al. Clin Chim Acta. 2020 Aug;507:17-22. doi: 10.1016/j.cca.2020.04.006. Epub 2020 Apr 8. Clin Chim Acta. 2020. PMID: 32277948

6

A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping.

Charbel Issa P, Gliem M, Yusuf IH, Birtel J, Müller PL, Mangold E, Downes SM, MacLaren RE, Betz C, Bolz HJ. Charbel Issa P, et al. Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3388-3397. doi: 10.1167/iovs.18-26415. Invest Ophthalmol Vis Sci. 2019. PMID: 31387115

7

A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis.

Fu J, Ma L, Cheng J, Yang L, Wei C, Fu S, Lv H, Chen R, Fu J. Fu J, et al. J Cell Mol Med. 2018 Nov;22(11):5662-5669. doi: 10.1111/jcmm.13841. Epub 2018 Aug 30. J Cell Mol Med. 2018. PMID: 30160356 Free PMC article.

8

Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature.

Bessette AP, DeBenedictis MJ, Traboulsi EI. Bessette AP, et al. Ophthalmic Genet. 2018 Jan-Feb;39(1):51-55. doi: 10.1080/13816810.2017.1363244. Epub 2017 Sep 8. Ophthalmic Genet. 2018. PMID: 28885867 Review.

9

CDHR1 mutations in retinal dystrophies.

Stingl K, Mayer AK, Llavona P, Mulahasanovic L, Rudolph G, Jacobson SG, Zrenner E, Kohl S, Wissinger B, Weisschuh N. Stingl K, et al. Sci Rep. 2017 Aug 1;7(1):6992. doi: 10.1038/s41598-017-07117-8. Sci Rep. 2017. PMID: 28765526 Free PMC article.

10

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

Arno G, Hull S, Carss K, Dev-Borman A, Chakarova C, Bujakowska K, van den Born LI, Robson AG, Holder GE, Michaelides M, Cremers FP, Pierce E, Raymond FL, Moore AT, Webster AR. Arno G, et al. Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):4806-13. doi: 10.1167/iovs.16-19687. Invest Ophthalmol Vis Sci. 2016. PMID: 27623334

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