| Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss. | Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss.
Pantrangi M, Rath J, Kaetterhenry N, Branham K, Talsness D, Weber JL., Free PMC Article | 04/12/2024 |
| Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene. | Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene.
Baz-Redón N, Sánchez-Bellver L, Fernández-Cancio M, Rovira-Amigo S, Burgoyne T, Ranjit R, Aquino V, Toro-Barrios N, Carmona R, Polverino E, Cols M, Moreno-Galdó A, Camats-Tarruella N, Marfany G., Free PMC Article | 03/29/2024 |
| Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGR[ORF15] Genetic Variants. | Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGR(ORF15) Genetic Variants.
Bonetti G, Cozza W, Bernini A, Kaftalli J, Mareso C, Cristofoli F, Medori MC, Colombo L, Martella S, Staurenghi G, Salvetti AP, Falsini B, Placidi G, Attanasio M, Pertile G, Bengala M, Bosello F, Petracca A, D'Esposito F, Toschi B, Lanzetta P, Ricci F, Viola F, Marceddu G, Bertelli M., Free PMC Article | 12/20/2023 |
| Identification of the RPGR Gene Pathogenic Variants in a Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype. | Identification of the RPGR Gene Pathogenic Variants in a Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype.
Nowomiejska K, Baltaziak K, Całka P, Ciesielka M, Teresiński G, Rejdak R., Free PMC Article | 10/30/2023 |
| RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3'-end of ORF15. | RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3'-end of ORF15.
Benson MD, Mukherjee S, Agather AR, Blain D, Cunningham D, Mays R, Sun X, Li T, Hufnagel RB, Brooks BP, Huryn LA, Zein WM, Cukras CA., Free PMC Article | 09/12/2023 |
| Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations. | Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations.
Usman M, Jüschke C, Song F, Kastrati D, Owczarek-Lipska M, Eilers J, Pauleikhoff L, Lange C, Neidhardt J., Free PMC Article | 08/9/2023 |
| Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells. | Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells.
Yahya S, Watson CM, Carr I, McKibbin M, Crinnion LA, Taylor M, Bonin H, Fletcher T, El-Asrag ME, Ali M, Toomes C, Inglehearn CF., Free PMC Article | 06/29/2023 |
| Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature. | Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature.
Tran M, Kolesnikova M, Kim AH, Kowal T, Ning K, Mahajan VB, Tsang SH, Sun Y., Free PMC Article | 06/23/2023 |
| Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations. | Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations.
Kuruvilla SE, Song E, Raoof N, van Bysterveldt K, Oliver VF, Hong SC, Al-Taie R, Wilson G, Vincent AL. | 06/16/2023 |
| Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes. | Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes.
Marques JP, Pinheiro R, Carvalho AL, Raimundo M, Soares M, Melo P, Murta J, Saraiva J, Silva R. | 03/15/2023 |
| Identification of RPGR ORF15 mutation for X-linked retinitis pigmentosa in a large Chinese family and in vitro correction with prime editor. | Identification of RPGR ORF15 mutation for X-linked retinitis pigmentosa in a large Chinese family and in vitro correction with prime editor.
Lv X, Zheng Z, Zhi X, Zhou Y, Lv J, Zhou Y, Wu B, Liu S, Shi W, Song Z, Xu J, Qu J, Xu D, Gu F. | 02/22/2023 |
| Microperimetry and Adaptive Optics Imaging Reveal Localized Functional and Structural Changes in Asymptomatic RPGR Mutation Carriers. | Microperimetry and Adaptive Optics Imaging Reveal Localized Functional and Structural Changes in Asymptomatic RPGR Mutation Carriers.
Roshandel D, Lamey TM, Charng J, Heath Jeffery RC, McLaren TL, Thompson JA, De Roach JN, McLenachan S, Mackey DA, Chen FK., Free PMC Article | 01/28/2023 |
| Identification of circular RNAs hosted by the RPGR ORF15 genomic locus. | Identification of circular RNAs hosted by the RPGR ORF15 genomic locus.
Appelbaum T, Aguirre GD, Beltran WA., Free PMC Article | 01/14/2023 |
| Impaired glutamylation of RPGR[ORF15] underlies the cone-dominated phenotype associated with truncating distal ORF15 variants. | Impaired glutamylation of RPGR(ORF15) underlies the cone-dominated phenotype associated with truncating distal ORF15 variants.
Cehajic-Kapetanovic J, Martinez-Fernandez de la Camara C, Birtel J, Rehman S, McClements ME, Charbel Issa P, Lotery AJ, MacLaren RE., Free PMC Article | 12/17/2022 |
| Prevalence of RPGR-mutated X-linked retinitis pigmentosa among males. | Prevalence of RPGR-mutated X-linked retinitis pigmentosa among males.
Vinikoor-Imler LC, Simpson C, Narayanan D, Abbasi S, Lally C. | 10/8/2022 |
| Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease. | Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.
Nassisi M, De Bartolo G, Mohand-Said S, Condroyer C, Antonio A, Lancelot ME, Bujakowska K, Smirnov V, Pugliese T, Neidhardt J, Sahel JA, Zeitz C, Audo I., Free PMC Article | 07/23/2022 |
| Multimodal imaging of an RPGR carrier female. | Multimodal imaging of an RPGR carrier female.
Kilgore DA, Kilgore TA, Sukpraprut-Braaten S, Schaefer GB, Uwaydat SH. | 01/1/2022 |
| Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa. | Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa.
Beigi F, Del Pozo-Valero M, Martin-Merida I, Manaviat MR, Ayuso C, Ghasemi N. | 11/6/2021 |
| RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP). | RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP).
Moreno-Leon L, West EL, O'Hara-Wright M, Li L, Nair R, He J, Anand M, Sahu B, Chavali VRM, Smith AJ, Ali RR, Jacobson SG, Cideciyan AV, Khanna H., Free PMC Article | 09/11/2021 |
| Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15. | Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15.
Hadalin V, Šuštar M, Volk M, Maver A, Sajovic J, Jarc-Vidmar M, Peterlin B, Hawlina M, Fakin A., Free PMC Article | 08/21/2021 |
| A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation. | A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation.
Wang Y, Lu L, Zhang D, Tan Y, Li D, He F, Jiao X, Yang M, Hejtmancik JF, Liu X., Free PMC Article | 07/24/2021 |
| X-linked dominant RPGR gene mutation in a familial Coats angiomatosis. | X-linked dominant RPGR gene mutation in a familial Coats angiomatosis.
Nebbioso M, Franzone F, Lambiase A, La Cava M, Mallone F, Pizzuti A, Marchionni E., Free PMC Article | 07/10/2021 |
| Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa. | Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa.
Cehajic-Kapetanovic J, McClements ME, Whitfield J, Shanks M, Clouston P, MacLaren RE., Free PMC Article | 07/3/2021 |
| X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa. | X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.
Fahim AT, Sullivan LS, Bowne SJ, Jones KD, Wheaton DKH, Khan NW, Heckenlively JR, Jayasundera KT, Branham KH, Andrews CA, Othman MI, Karoukis AJ, Birch DG, Daiger SP., Free PMC Article | 05/22/2021 |
| The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L. | The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L.
Vössing C, Atigbire P, Eilers J, Markus F, Stieger K, Song F, Neidhardt J., Free PMC Article | 05/15/2021 |