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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 8
1964 11
1965 8
1966 3
1967 13
1968 20
1969 35
1970 19
1971 29
1972 44
1973 33
1974 34
1975 27
1976 36
1977 27
1978 19
1979 19
1980 23
1981 22
1982 28
1983 27
1984 17
1985 31
1986 34
1987 41
1988 50
1989 80
1990 83
1991 83
1992 98
1993 92
1994 70
1995 90
1996 79
1997 95
1998 92
1999 81
2000 86
2001 133
2002 91
2003 109
2004 111
2005 158
2006 172
2007 137
2008 139
2009 124
2010 162
2011 159
2012 184
2013 184
2014 214
2015 229
2016 243
2017 211
2018 247
2019 249
2020 208
2021 275
2022 251
2023 192
2024 4

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5,426 results

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Page 1
Ciliopathies and the Kidney: A Review.
McConnachie DJ, Stow JL, Mallett AJ. McConnachie DJ, et al. Am J Kidney Dis. 2021 Mar;77(3):410-419. doi: 10.1053/j.ajkd.2020.08.012. Epub 2020 Oct 9. Am J Kidney Dis. 2021. PMID: 33039432 Free article. Review.
During the past 2 decades, they have been found to play important roles in tissue development and signal transduction, with mutations in ciliary-associated proteins resulting in a group of diseases collectively known as ciliopathies. Many of these mutations manifest as ren …
During the past 2 decades, they have been found to play important roles in tissue development and signal transduction, with mutations in cil …
Thyroid eye disease: a review.
Weiler DL. Weiler DL. Clin Exp Optom. 2017 Jan;100(1):20-25. doi: 10.1111/cxo.12472. Epub 2016 Oct 4. Clin Exp Optom. 2017. PMID: 27701774 Free article. Review.
Thyroid eye disease is a multifactorial autoimmune disease with a spectrum of signs and symptoms. ...The purpose of this review is to assist the eye-care practitioner in staging the severity of thyroid eye disease (mild, moderate-to-severe and sight-threateni …
Thyroid eye disease is a multifactorial autoimmune disease with a spectrum of signs and symptoms. ...The purpose of this review is to …
Dominant Stickler Syndrome.
Soh Z, Richards AJ, McNinch A, Alexander P, Martin H, Snead MP. Soh Z, et al. Genes (Basel). 2022 Jun 18;13(6):1089. doi: 10.3390/genes13061089. Genes (Basel). 2022. PMID: 35741851 Free PMC article. Review.
Epidemiology of blindness in children.
Solebo AL, Teoh L, Rahi J. Solebo AL, et al. Arch Dis Child. 2017 Sep;102(9):853-857. doi: 10.1136/archdischild-2016-310532. Epub 2017 May 2. Arch Dis Child. 2017. PMID: 28465303 Free article. Review.
New therapeutic targets are emerging for childhood visual disorders, although the safety and efficacy of novel therapies for diseases such as ROP or retinal dystrophies are not yet clear. Population-based epidemiological research, particularly on cerebral visual impairment …
New therapeutic targets are emerging for childhood visual disorders, although the safety and efficacy of novel therapies for diseases …
Inherited retinal diseases: Therapeutics, clinical trials and end points-A review.
Georgiou M, Fujinami K, Michaelides M. Georgiou M, et al. Clin Exp Ophthalmol. 2021 Apr;49(3):270-288. doi: 10.1111/ceo.13917. Epub 2021 Mar 20. Clin Exp Ophthalmol. 2021. PMID: 33686777 Review.
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders characterised by photoreceptor degeneration or dysfunction. ...
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders characterised by photoreceptor de …
Early and late stage gene therapy interventions for inherited retinal degenerations.
Botto C, Rucli M, Tekinsoy MD, Pulman J, Sahel JA, Dalkara D. Botto C, et al. Prog Retin Eye Res. 2022 Jan;86:100975. doi: 10.1016/j.preteyeres.2021.100975. Epub 2021 May 29. Prog Retin Eye Res. 2022. PMID: 34058340 Free article. Review.
Inherited and age-related retinal degeneration is the hallmark of a large group of heterogeneous diseases and is the main cause of untreatable blindness today. Genetic factors play a major pathogenic role in retinal degenerations for both monogenic diseases (such as …
Inherited and age-related retinal degeneration is the hallmark of a large group of heterogeneous diseases and is the main cause of un …
Retinitis pigmentosa.
Hartong DT, Berson EL, Dryja TP. Hartong DT, et al. Lancet. 2006 Nov 18;368(9549):1795-809. doi: 10.1016/S0140-6736(06)69740-7. Lancet. 2006. PMID: 17113430 Review.
Hereditary degenerations of the human retina are genetically heterogeneous, with well over 100 genes implicated so far. This Seminar focuses on the subset of diseases called retinitis pigmentosa, in which patients typically lose night vision in adolescence, side vis …
Hereditary degenerations of the human retina are genetically heterogeneous, with well over 100 genes implicated so far. This Seminar …
Biology of Inherited Cataracts and Opportunities for Treatment.
Shiels A, Hejtmancik JF. Shiels A, et al. Annu Rev Vis Sci. 2019 Sep 15;5:123-149. doi: 10.1146/annurev-vision-091517-034346. Annu Rev Vis Sci. 2019. PMID: 31525139 Free PMC article. Review.
Cataract, the clinical correlate of opacity or light scattering in the eye lens, is usually caused by the presence of high-molecular-weight (HMW) protein aggregates or disruption of the lens microarchitecture. ...
Cataract, the clinical correlate of opacity or light scattering in the eye lens, is usually caused by the presence of high-molecular- …
Mitochondrial optic neuropathies.
Carelli V, La Morgia C, Yu-Wai-Man P. Carelli V, et al. Handb Clin Neurol. 2023;194:23-42. doi: 10.1016/B978-0-12-821751-1.00010-5. Handb Clin Neurol. 2023. PMID: 36813316 Review.
Mitochondrial optic neuropathies have a leading role in the field of mitochondrial medicine ever since 1988, when the first mutation in mitochondrial DNA was associated with Leber's hereditary optic neuropathy (LHON). Autosomal dominant optic atrophy (DOA) was subsequently …
Mitochondrial optic neuropathies have a leading role in the field of mitochondrial medicine ever since 1988, when the first mutation in mito …
5,426 results