| Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies. | 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., Free PMC Article | 06/11/2022 |
| A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy. | 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. | 02/5/2022 |
| Deep phenotyping of the Cdhr1(-/-) mouse validates its use in pre-clinical studies for human CDHR1-associated retinal degeneration. | 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. | 10/2/2021 |
| A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy. | 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., Free PMC Article | 07/17/2021 |
| Identification of a novel homozygous nonsense mutation in the CDHR1 gene in a Chinese family with autosomal recessive retinitis pigmentosa. | 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. | 01/16/2021 |
| Patients with biallelic c.783G>A CDHR1 mutations demonstrate a retinal phenotype consistent with autosomal recessive central areolar choroidal dystrophy (CACD). | 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. | 12/28/2019 |
| our study is the first to indicate that the novel homozygous variant c.T1641A (p.Y547*) in the CHDR1 gene might be the disease-causing mutation for retinal dystrophy in our patient, extending its mutation spectrums. | 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., Free PMC Article | 12/14/2019 |
| Mutations in CDHR1 are a rare cause of retinal dystrophy. This study further expands the mutational spectrum of this gene and the associated clinical presentation. | 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., Free PMC Article | 02/9/2019 |
| CDHR1-related retinal dystrophy should be considered in adult patients with a retinal dystrophy who present with symptoms of cone-and-rod dysfunction and macular atrophy on ophthalmoscopic examination. | 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. | 03/31/2018 |
| the recessive retinal disorder previously reported to be due to homozygous mutation in RGR is, at least in part, due to variants in CDHR1 and that the true consequences of RGR knock-out on human retinal structure and function are yet to be determined. | 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. | 05/27/2017 |
| we delineate the retinal pathology of two families segregating autosomal recessive retinal dystrophy due to two previously undescribed mutations in CDHR1. | Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.
Nikopoulos K, Avila-Fernandez A, Corton M, Lopez-Molina MI, Perez-Carro R, Bontadelli L, Di Gioia SA, Zurita O, Garcia-Sandoval B, Rivolta C, Ayuso C., Free PMC Article | 08/6/2016 |
| Lack of CDHR1 in the human retina causes symptoms related to cone photoreceptor dysfunction. | Clinical characteristics of early retinal disease due to CDHR1 mutation.
Ba-Abbad R, Sergouniotis PI, Plagnol V, Robson AG, Michaelides M, Holder GE, Webster AR., Free PMC Article | 03/29/2014 |
| A novel splice site mutation of CDHR1, c.1485+2T>G, underlying autosomal recessive cone-rod dystrophy has been described in a consanguineous Israeli Christian Arab family. | A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.
Cohen B, Chervinsky E, Jabaly-Habib H, Shalev SA, Briscoe D, Ben-Yosef T., Free PMC Article | 05/18/2013 |
| High-resolution retinal imaging revealed outer retinal changes suggesting that CDHR1 is important for normal photoreceptor structure and survival. | Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration.
Duncan JL, Roorda A, Navani M, Vishweswaraiah S, Syed R, Soudry S, Ratnam K, Gudiseva HV, Lee P, Gaasterland T, Ayyagari R., Free PMC Article | 01/12/2013 |
| To our knowledge, this is the first report of mutations in PCDH21 as a cause of human disease, autosomal recessive cone-rod dystrophy. | Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.
Ostergaard E, Batbayli M, Duno M, Vilhelmsen K, Rosenberg T., Free PMC Article | 01/29/2011 |
| Biallelic mutations in the photoreceptor-specific gene PCDH21 cause recessive retinal degeneration in humans. | Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.
Henderson RH, Li Z, Abd El Aziz MM, Mackay DS, Eljinini MA, Zeidan M, Moore AT, Bhattacharya SS, Webster AR., Free PMC Article | 03/15/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesA scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrièze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A. Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies.
Bolz H, Ebermann I, Gal A, Bolz H, Ebermann I, Gal A. | 03/13/2008 |
| PCDH21 mutations are not a major cause of the retinal diseases investigated herein, and the corresponding human phenotype remains to be determined. | Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies.
Bolz H, Ebermann I, Gal A, Bolz H, Ebermann I, Gal A. | 01/21/2010 |