Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1970 2
1991 1
1994 2
2004 2
2007 1
2008 1
2012 1
2013 1
2015 2
2016 2
2017 1
2020 2
2021 1
2022 2
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

19 results

Results by year

Filters applied: . Clear all
Page 1
OFD Type I syndrome: lessons learned from a rare ciliopathy.
Morleo M, Franco B. Morleo M, et al. Biochem Soc Trans. 2020 Oct 30;48(5):1929-1939. doi: 10.1042/BST20191029. Biochem Soc Trans. 2020. PMID: 32897366 Review.
The transcript has been subsequently associated to four different X-linked recessive conditions, namely Joubert syndrome, retinitis pigmentosa, primary ciliary dyskinesia and Simpson-Golabi-Behmel type 2 syndrome. ...
The transcript has been subsequently associated to four different X-linked recessive conditions, namely Joubert syndrome, retinitis
Pharmacological approaches to retinitis pigmentosa: A laboratory perspective.
Guadagni V, Novelli E, Piano I, Gargini C, Strettoi E. Guadagni V, et al. Prog Retin Eye Res. 2015 Sep;48:62-81. doi: 10.1016/j.preteyeres.2015.06.005. Epub 2015 Jun 22. Prog Retin Eye Res. 2015. PMID: 26113212 Review.
Such high efficiency and molecular complexity require a great metabolic demand, altogether conferring to photoreceptors particular susceptibility to external and internal insults, whose occurrence usually precipitate into degeneration of these cells and blindness. In Retinitis
Such high efficiency and molecular complexity require a great metabolic demand, altogether conferring to photoreceptors particular susceptib …
Advances in genetic hearing loss: CIB2 gene.
Jacoszek A, Pollak A, Płoski R, Ołdak M. Jacoszek A, et al. Eur Arch Otorhinolaryngol. 2017 Apr;274(4):1791-1795. doi: 10.1007/s00405-016-4330-9. Epub 2016 Oct 22. Eur Arch Otorhinolaryngol. 2017. PMID: 27771768 Free PMC article. Review.
Susceptibility of TNFAIP8, TNFAIP8L1, and TNFAIP2 Gene Polymorphisms on Cancer Risk: A Comprehensive Review and Meta-Analysis of Case-Control Studies.
Bhowmik KK, Barek MA, Aziz MA, Islam MS. Bhowmik KK, et al. Technol Cancer Res Treat. 2022 Jan-Dec;21:15330338221123109. doi: 10.1177/15330338221123109. Technol Cancer Res Treat. 2022. PMID: 36254562 Free PMC article. Review.
Four genetic models of rs11064 (codominant 2 [COD2]: OR = 2.30, p = 7.83 10(-5); codominant 3 [COD3]: OR = 2.10, p = .0006; recessive model [RM]: OR = 2.24, p = .0001; AC: OR = 1.47, p = .037), two genetic models of rs1045241 (codominant 1 [COD1]: OR = 1.27, p = .009; overdominan …
Four genetic models of rs11064 (codominant 2 [COD2]: OR = 2.30, p = 7.83 10(-5); codominant 3 [COD3]: OR = 2.10, p = .0006; recessive model …
Mitochondrial DNA alterations and genetic diseases: a review.
Lestienne P, Bataillé N. Lestienne P, et al. Biomed Pharmacother. 1994;48(5-6):199-214. doi: 10.1016/0753-3322(94)90134-1. Biomed Pharmacother. 1994. PMID: 7999980 Review.
We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic muscle weakness, Ataxia and Retinitis Pigmentosa) a …
We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene muta …
Etiologies and clinical characteristics of young patients with angle-closure glaucoma: a 15-year single-center retrospective study.
Gao F, Wang J, Chen J, Wang X, Chen Y, Sun X. Gao F, et al. Graefes Arch Clin Exp Ophthalmol. 2021 Aug;259(8):2379-2387. doi: 10.1007/s00417-021-05172-6. Epub 2021 Apr 19. Graefes Arch Clin Exp Ophthalmol. 2021. PMID: 33876278 Free PMC article. Review.
RESULTS: A total of 298 patients (463 eyes) met the criteria, including 153 females (51.3%) and 145 males (48.7%); the mean age was 25.6 13.0 years. Primary angle-closure glaucoma (PACG), uveitis, and anterior segment dysgenesis (ASD) were the top three etiologies in our p …
RESULTS: A total of 298 patients (463 eyes) met the criteria, including 153 females (51.3%) and 145 males (48.7%); the mean age was 2 …
Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.
Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G. Maccora I, et al. J Clin Immunol. 2023 Jan;43(1):1-30. doi: 10.1007/s10875-022-01343-0. Epub 2022 Aug 19. J Clin Immunol. 2023. PMID: 35984545 Free PMC article. Review.
The most frequent manifestations are haematologic such as microcytic anaemia or sideroblastic anaemia (55/58), recurrent fever (52/58), neurologic abnormalities (48/58), immunologic abnormalities in particular a humoral immunodeficiency (48/58), gastrointestinal sig …
The most frequent manifestations are haematologic such as microcytic anaemia or sideroblastic anaemia (55/58), recurrent fever (52/58), neur …
[Expression and function of microRNA in the eye].
Zhang LJ, Zhang Y, Dong LJ, Li XR. Zhang LJ, et al. Zhonghua Yan Ke Za Zhi. 2012 Dec;48(12):1136-40. Zhonghua Yan Ke Za Zhi. 2012. PMID: 23336420 Review. Chinese.
On the other hand, miRNA also play a crucial regulatory role in the pathogenesis and development of several ocular diseases, such as neovascularization, autoimmune uveitis, retinitis pigmentosa, glaucoma, and retinoblastoma. The mechanistic study on miRNA and their …
On the other hand, miRNA also play a crucial regulatory role in the pathogenesis and development of several ocular diseases, such as neovasc …
Metabolic pathways in context: mTOR signalling in the retina and optic nerve - A review.
Yao A, van Wijngaarden P. Yao A, et al. Clin Exp Ophthalmol. 2020 Nov;48(8):1072-1084. doi: 10.1111/ceo.13819. Epub 2020 Aug 17. Clin Exp Ophthalmol. 2020. PMID: 32639081 Review.
The mechanistic target of rapamycin (mTOR) signalling network plays a key role in growth and development, autophagy, metabolism, inflammation as well as ageing, and it is therefore important in ocular health and disease. mTOR dysregulation has been identified in a range of condit …
The mechanistic target of rapamycin (mTOR) signalling network plays a key role in growth and development, autophagy, metabolism, inflammatio …
19 results