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

Year Number of Results
1979 1
1989 2
1995 2
1998 2
1999 1
2001 1
2003 1
2006 1
2007 5
2008 1
2009 2
2010 1
2011 1
2012 3
2014 1
2017 3
2018 3
2020 3
2021 3
2022 5
2023 4
2024 1

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43 results

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Page 1
Asymmetric diabetic retinopathy.
Azad R, Sinha S, Nishant P. Azad R, et al. Indian J Ophthalmol. 2021 Nov;69(11):3026-3034. doi: 10.4103/ijo.IJO_1525_21. Indian J Ophthalmol. 2021. PMID: 34708738 Free PMC article. Review.
This thematic synthesis based on an iterative literature review conducted in Medline and Google Scholar pertaining to diabetes with coexistent asymmetry of retinopathy included 45 original articles, 21 case reports and series, and 18 review articles from 1965 to 2020. Asym …
This thematic synthesis based on an iterative literature review conducted in Medline and Google Scholar pertaining to diabetes with coexiste …
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
As regards autosomal-dominant NSHI, DFNA22 (MYO6) and DFNA8/12 (TECTA) represent the most common forms, accounting for 21% and 18% of elucidated cases, respectively. The contribution of ACTG1 and WFS1 drops to 9% in both cases, followed by POU4F3 (6.5%), MYO7A (5%), MYH14 …
As regards autosomal-dominant NSHI, DFNA22 (MYO6) and DFNA8/12 (TECTA) represent the most common forms, accounting for 21% and 18% of …
Dandy-Walker Malformation.
Society for Maternal-Fetal Medicine (SMFM); Monteagudo A. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2020 Dec;223(6):B38-B41. doi: 10.1016/j.ajog.2020.08.184. Epub 2020 Nov 7. Am J Obstet Gynecol. 2020. PMID: 33168220 Review. No abstract available.
Organoid technology for retinal repair.
Llonch S, Carido M, Ader M. Llonch S, et al. Dev Biol. 2018 Jan 15;433(2):132-143. doi: 10.1016/j.ydbio.2017.09.028. Epub 2017 Dec 25. Dev Biol. 2018. PMID: 29291970 Free article. Review.
Photoreceptor damage is one of the main characteristics found in retinal degeneration diseases, such as Retinitis Pigmentosa or age-related macular degeneration. The lack of effective therapies to stop photoreceptor loss together with the absence of significant intr …
Photoreceptor damage is one of the main characteristics found in retinal degeneration diseases, such as Retinitis Pigmentosa o …
Review of Genotype-Phenotype Correlations in Usher Syndrome.
Nisenbaum E, Thielhelm TP, Nourbakhsh A, Yan D, Blanton SH, Shu Y, Koehler KR, El-Amraoui A, Chen Z, Lam BL, Liu X. Nisenbaum E, et al. Ear Hear. 2022 Jan/Feb;43(1):1-8. doi: 10.1097/AUD.0000000000001066. Ear Hear. 2022. PMID: 34039936 Free PMC article. Review.
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M, Pattnaik BR. Kabra M, et al. Int J Mol Sci. 2020 Sep 21;21(18):6925. doi: 10.3390/ijms21186925. Int J Mol Sci. 2020. PMID: 32967234 Free PMC article. Review.
Here, we review the role of different mutations in switching a "sensing" ion channel to "non-sensing," leading to ocular channelopathies like Leber's congenital amaurosis 16 (LCA16), cone dystrophy, congenital stationary night blindness (CSNB), achromatopsia, bestrophinopathies, …
Here, we review the role of different mutations in switching a "sensing" ion channel to "non-sensing," leading to ocular channelopathies lik …
Nephronophthisis-associated ciliopathies.
Hildebrandt F, Zhou W. Hildebrandt F, et al. J Am Soc Nephrol. 2007 Jun;18(6):1855-71. doi: 10.1681/ASN.2006121344. Epub 2007 May 18. J Am Soc Nephrol. 2007. PMID: 17513324 Review.
Contrary to polycystic kidney disease, NPHP shows normal or diminished kidney size, cysts are concentrated at the corticomedullary junction, and tubulointerstitial fibrosis is dominant. NPHP can be associated with retinitis pigmentosa (Senior-Loken syndrome), liver …
Contrary to polycystic kidney disease, NPHP shows normal or diminished kidney size, cysts are concentrated at the corticomedullary junction, …
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.
Gene therapy for inherited retinal and optic nerve degenerations.
Moore NA, Morral N, Ciulla TA, Bracha P. Moore NA, et al. Expert Opin Biol Ther. 2018 Jan;18(1):37-49. doi: 10.1080/14712598.2018.1389886. Epub 2017 Oct 23. Expert Opin Biol Ther. 2018. PMID: 29057663 Free article. Review.
AREAS COVERED: This review covers Leber's congenital amaurosis, choroideremia, retinitis pigmentosa, Usher syndrome, Stargardt disease, Leber's hereditary optic neuropathy, Achromatopsia, and X-linked retinoschisis. ...
AREAS COVERED: This review covers Leber's congenital amaurosis, choroideremia, retinitis pigmentosa, Usher syndrome, Stargardt …
IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search.
Sakti DH, Cornish EE, Nash BM, Jamieson RV, Grigg JR. Sakti DH, et al. Ophthalmic Genet. 2023 Oct;44(5):437-455. doi: 10.1080/13816810.2023.2215310. Epub 2023 May 31. Ophthalmic Genet. 2023. PMID: 37259572 Review.
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) are causative for RP10 autosomal dominant retinitis pigmentosa (adRP). This study reports a novel variant in a family with IMPDH1-associated retinopathy. ...The heterozygous group included 43 misse …
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) are causative for RP10 autosomal dominant retinitis pigmentos …
43 results