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Year Number of Results
1990 1
1993 2
1994 1
1996 2
1997 1
1999 1
2000 1
2002 1
2003 1
2004 2
2005 1
2006 1
2007 3
2008 1
2010 1
2011 3
2012 1
2013 3
2014 4
2015 4
2016 3
2018 3
2019 2
2020 1
2021 2
2022 3
2023 2
2024 1

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44 results

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Page 1
Ciliopathy: Bardet-Biedl Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:171-174. doi: 10.1007/978-3-319-95046-4_33. Adv Exp Med Biol. 2018. PMID: 30578506 Review.
Hypogonadism and renal involvement occur in about 40%, mental retardation in about 50%, and truncal obesity in about 70%; it is present early, along with insulin resistance, type 2 diabetes, dyslipidemia, and hypertension. ...In males, there is oligospermia, leading to inf …
Hypogonadism and renal involvement occur in about 40%, mental retardation in about 50%, and truncal obesity in about 70%; it is prese …
Autosomal Dominant Retinitis Pigmentosa.
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:69-77. doi: 10.1007/978-3-319-95046-4_15. Adv Exp Med Biol. 2018. PMID: 30578488 Review.
More than 70 genes (over 3000 mutations) are known to cause non-syndromic retinitis pigmentosa (RP), including autosomal dominant (AD), autosomal recessive (AR), X-linked, and simplex forms (inheritance not known). The AD form accounts for approximately 15-25% of ca …
More than 70 genes (over 3000 mutations) are known to cause non-syndromic retinitis pigmentosa (RP), including autosomal domin …
Genetic dissection of non-syndromic retinitis pigmentosa.
Bhardwaj A, Yadav A, Yadav M, Tanwar M. Bhardwaj A, et al. Indian J Ophthalmol. 2022 Jul;70(7):2355-2385. doi: 10.4103/ijo.IJO_46_22. Indian J Ophthalmol. 2022. PMID: 35791117 Free PMC article. Review.
Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. ...Although over 90 genes have been identified in RP patients, the genetic cause of approximately 50% of RP cases remains unknown. Heterogeneity of RP makes it an extremely complicated
Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. ...Although over 90 genes have been identified in RP
Cilia-related diseases.
Afzelius BA. Afzelius BA. J Pathol. 2004 Nov;204(4):470-7. doi: 10.1002/path.1652. J Pathol. 2004. PMID: 15495266 Free PMC article. Review.
When the so-called nodal cilia (9 + 0) of the early embryo are malfunctioning, there is a random determination of asymmetry of the heart and visceral organs ('a 50% risk of situs inversus'). Some genes are responsible for the synthesis, transport, and assembly of the cilia …
When the so-called nodal cilia (9 + 0) of the early embryo are malfunctioning, there is a random determination of asymmetry of the heart and …
Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.
Daiger SP, Bowne SJ, Sullivan LS. Daiger SP, et al. Cold Spring Harb Perspect Med. 2014 Oct 10;5(10):a017129. doi: 10.1101/cshperspect.a017129. Cold Spring Harb Perspect Med. 2014. PMID: 25304133 Free PMC article. Review.
Retinitis pigmentosa (RP) has a prevalence of approximately one in 4000; 25%-30% of these cases are autosomal dominant retinitis pigmentosa (adRP). ...Currently, it is possible to detect disease-causing mutations in 50%-75% of adRP families in s
Retinitis pigmentosa (RP) has a prevalence of approximately one in 4000; 25%-30% of these cases are autosomal dominant reti
Optogenetics: Therapeutic spark in neuropathic pain.
Liu K, Wang L. Liu K, et al. Bosn J Basic Med Sci. 2019 Nov 8;19(4):321-327. doi: 10.17305/bjbms.2019.4114. Bosn J Basic Med Sci. 2019. PMID: 30995901 Free PMC article. Review.
The exact mechanism for neuropathic pain is not known, however proposed mechanisms include immune reactions, ion channel expressions, and inflammation. Current regimen for the disease provides about 50% relief for only 40-60% of patients. Recent in vivo and in vitro studie …
The exact mechanism for neuropathic pain is not known, however proposed mechanisms include immune reactions, ion channel expressions, and in …
The Argus(®) II Retinal Prosthesis System.
Luo YH, da Cruz L. Luo YH, et al. Prog Retin Eye Res. 2016 Jan;50:89-107. doi: 10.1016/j.preteyeres.2015.09.003. Epub 2015 Sep 25. Prog Retin Eye Res. 2016. PMID: 26404104 Review.
As such it has entered the commercial market as a treatment for patients with profound vision loss from end-stage outer retinal disease, predominantly retinitis pigmentosa. To date, over 100 devices have been implanted worldwide, representing the largest group of pa …
As such it has entered the commercial market as a treatment for patients with profound vision loss from end-stage outer retinal disease, pre …
Brown-Vialetto-Van Laere syndrome.
Sathasivam S. Sathasivam S. Orphanet J Rare Dis. 2008 Apr 17;3:9. doi: 10.1186/1750-1172-3-9. Orphanet J Rare Dis. 2008. PMID: 18416855 Free PMC article. Review.
Other features include respiratory compromise (the most frequent non-neurological finding), limb weakness, slurring of speech, facial weakness, and neck and shoulder weakness. Optic atrophy, retinitis pigmentosa, macular hyperpigmentation, autonomic dysfunction, epi …
Other features include respiratory compromise (the most frequent non-neurological finding), limb weakness, slurring of speech, facial weakne …
Stem cells in clinical trials for treatment of retinal degeneration.
Klassen H. Klassen H. Expert Opin Biol Ther. 2016;16(1):7-14. doi: 10.1517/14712598.2016.1093110. Epub 2015 Sep 28. Expert Opin Biol Ther. 2016. PMID: 26414165 Review.
These efforts will evaluate the safety and preliminary efficacy of cell-based products in the eyes of patients with a number of retinal conditions, notably including age-related macular degeneration, retinitis pigmentosa and Stargardt's disease. AREAS COVERED: This …
These efforts will evaluate the safety and preliminary efficacy of cell-based products in the eyes of patients with a number of retinal cond …
Personalized therapeutic strategies for patients with retinitis pigmentosa.
Zheng A, Li Y, Tsang SH. Zheng A, et al. Expert Opin Biol Ther. 2015 Mar;15(3):391-402. doi: 10.1517/14712598.2015.1006192. Epub 2015 Jan 23. Expert Opin Biol Ther. 2015. PMID: 25613576 Free PMC article. Review.
INTRODUCTION: Retinitis pigmentosa (RP) encompasses many different hereditary retinal degenerations that are caused by a vast array of different gene mutations and have highly variable disease presentations and severities. ...
INTRODUCTION: Retinitis pigmentosa (RP) encompasses many different hereditary retinal degenerations that are caused by a vast …
44 results