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Non-syndromic retinitis pigmentosa.
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ. Verbakel SK, et al. Prog Retin Eye Res. 2018 Sep;66:157-186. doi: 10.1016/j.preteyeres.2018.03.005. Epub 2018 Mar 27. Prog Retin Eye Res. 2018. PMID: 29597005 Free article. Review.
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. ...
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of ro …
Mitochondrial dysfunction underlying outer retinal diseases.
Lefevere E, Toft-Kehler AK, Vohra R, Kolko M, Moons L, Van Hove I. Lefevere E, et al. Mitochondrion. 2017 Sep;36:66-76. doi: 10.1016/j.mito.2017.03.006. Epub 2017 Mar 29. Mitochondrion. 2017. PMID: 28365408 Review.
Hearing loss in Africa: current genetic profile.
Adadey SM, Wonkam-Tingang E, Aboagye ET, Quaye O, Awandare GA, Wonkam A. Adadey SM, et al. Hum Genet. 2022 Apr;141(3-4):505-517. doi: 10.1007/s00439-021-02376-y. Epub 2021 Oct 5. Hum Genet. 2022. PMID: 34609590 Free PMC article. Review.
The most common method used in these publications was targeted gene sequencing (n = 66/111; 59.5%), and only 13.5% (n = 15/111) used whole-exome sequencing. ...
The most common method used in these publications was targeted gene sequencing (n = 66/111; 59.5%), and only 13.5% (n = 15/111) used …
Retinal degeneration in retinitis pigmentosa and neuronal ceroid lipofuscinosis: An overview.
Birch DG. Birch DG. Mol Genet Metab. 1999 Apr;66(4):356-66. doi: 10.1006/mgme.1999.2829. Mol Genet Metab. 1999. PMID: 10191129 Review.
In recent years, there has been a dramatic increase in knowledge of the molecular biological bases of retinitis pigmentosa and allied retinal degenerations. Rather than attempting a comprehensive summary, this review stresses the concepts of genetic, allelic, and cl …
In recent years, there has been a dramatic increase in knowledge of the molecular biological bases of retinitis pigmentosa and …
Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.
Aoun M, Passerini I, Chiurazzi P, Karali M, De Rienzo I, Sartor G, Murro V, Filimonova N, Seri M, Banfi S. Aoun M, et al. Int J Mol Sci. 2021 Jul 5;22(13):7207. doi: 10.3390/ijms22137207. Int J Mol Sci. 2021. PMID: 34281261 Free PMC article. Review.
Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EO[S]RD), which differ in severity and age of onset. ...
Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include retinitis pigmentosa (RP) and Leber con …
Molecular genetics of human retinal dystrophies.
Inglehearn CF. Inglehearn CF. Eye (Lond). 1998;12 ( Pt 3b):571-9. doi: 10.1038/eye.1998.147. Eye (Lond). 1998. PMID: 9775219 Review.
Retinal dystrophies are a heterogeneous group of diseases in which the retina degenerates, leading to either partial or complete blindness. The severe and clearly hereditary forms, retinitis pigmentosa (RP) and various macular degenerations, affect approximately 1 i …
Retinal dystrophies are a heterogeneous group of diseases in which the retina degenerates, leading to either partial or complete blindness. …
A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty.
Iannello S, Bosco P, Cavaleri A, Camuto M, Milazzo P, Belfiore F. Iannello S, et al. Obes Rev. 2002 May;3(2):123-35. doi: 10.1046/j.1467-789x.2002.00055.x. Obes Rev. 2002. PMID: 12120419 Review.
This study focuses on three cases of familial BBS--two sisters and one brother (66, 64 and 51 years of age, respectively)--with the main cardinal findings of the disease plus a classic 'metabolic syndrome' (characterized by abdominal obesity, atherogenic dyslipidaemia, rai …
This study focuses on three cases of familial BBS--two sisters and one brother (66, 64 and 51 years of age, respectively)--with the m …