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

Year Number of Results
1975 2
1976 3
1981 1
1982 1
1983 6
1984 2
1985 1
1986 1
1987 1
1988 1
1989 4
1990 2
1991 4
1992 3
1993 7
1994 2
1995 14
1996 7
1997 8
1998 16
1999 9
2000 18
2001 10
2002 15
2003 18
2004 22
2005 14
2006 24
2007 24
2008 28
2009 26
2010 21
2011 37
2012 35
2013 37
2014 38
2015 48
2016 39
2017 42
2018 39
2019 55
2020 55
2021 49
2022 55
2023 41
2024 19

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798 results

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Quoted phrase not found in phrase index: "Abnormality of globe location"
Page 1
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.
The severity of the disease phenotype is thus dependent on the location and nature of the mutation, as well as the normal developmental role of the respective protein....
The severity of the disease phenotype is thus dependent on the location and nature of the mutation, as well as the normal development …
Cell culture models to study retinal pigment epithelium-related pathogenesis in age-related macular degeneration.
Bharti K, den Hollander AI, Lakkaraju A, Sinha D, Williams DS, Finnemann SC, Bowes-Rickman C, Malek G, D'Amore PA. Bharti K, et al. Exp Eye Res. 2022 Sep;222:109170. doi: 10.1016/j.exer.2022.109170. Epub 2022 Jul 11. Exp Eye Res. 2022. PMID: 35835183 Free PMC article. Review.
AMD onset is marked by the presence of lipid- and protein-rich extracellular deposits beneath the retinal pigment epithelium (RPE), a monolayer of polarized, pigmented epithelial cells located between the photoreceptors and the choroidal blood supply. ...In addition, the n …
AMD onset is marked by the presence of lipid- and protein-rich extracellular deposits beneath the retinal pigment epithelium (RPE), a monola …
Descemetocele.
Agarwal R, Nagpal R, Todi V, Sharma N. Agarwal R, et al. Surv Ophthalmol. 2021 Jan-Feb;66(1):2-19. doi: 10.1016/j.survophthal.2020.10.004. Epub 2020 Oct 13. Surv Ophthalmol. 2021. PMID: 33058926 Review.
A corneal descemetocele, the anterior herniation of an intact Descemet membrane through an overlying stromal defect, is a rare, but serious outcome of progressive corneal ulceration and mandates urgent intervention owing to the imminent risk of perforation. Various ocular and sys …
A corneal descemetocele, the anterior herniation of an intact Descemet membrane through an overlying stromal defect, is a rare, but serious …
Venous overload choroidopathy: A hypothetical framework for central serous chorioretinopathy and allied disorders.
Spaide RF, Gemmy Cheung CM, Matsumoto H, Kishi S, Boon CJF, van Dijk EHC, Mauget-Faysse M, Behar-Cohen F, Hartnett ME, Sivaprasad S, Iida T, Brown DM, Chhablani J, Maloca PM. Spaide RF, et al. Prog Retin Eye Res. 2022 Jan;86:100973. doi: 10.1016/j.preteyeres.2021.100973. Epub 2021 May 21. Prog Retin Eye Res. 2022. PMID: 34029721 Free article. Review.
Control of venous outflow from the eye involves a Starling resistor effect, which appears to be abnormal in CSC. ...Spaceflight associated neuro-ocular syndrome appears to share many of the pathophysiologic problems of abnormal venous outflow from the choroid …
Control of venous outflow from the eye involves a Starling resistor effect, which appears to be abnormal in CSC. ...Spacefligh …
The role of the microbiota in glaucoma.
Huang L, Hong Y, Fu X, Tan H, Chen Y, Wang Y, Chen D. Huang L, et al. Mol Aspects Med. 2023 Dec;94:101221. doi: 10.1016/j.mam.2023.101221. Epub 2023 Oct 21. Mol Aspects Med. 2023. PMID: 37866106 Free article. Review.
The microbiota exerts a marked influence on the human body during homeostasis and disease. Many glaucoma patients have abnormal compositions of the microbiota (dysbiosis) in multiple locations, including the ocular surface, intraocular cavity, oral cavity, stomach, …
The microbiota exerts a marked influence on the human body during homeostasis and disease. Many glaucoma patients have abnormal compo …
Von Hippel-Lindau Disease.
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:201-203. doi: 10.1007/978-3-319-95046-4_42. Adv Exp Med Biol. 2018. PMID: 30578515 Review.
Phakomatoses (phakoma = birthmark) are a group of diseases or syndromes that have hamartomas (tumorous malformations composed of tissues normally present at the location where they develop) of the skin, brain, and eye (oculoneurocutaneous syndromes)....
Phakomatoses (phakoma = birthmark) are a group of diseases or syndromes that have hamartomas (tumorous malformations composed of tissues nor …
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.
The genotype-phenotype relationships among USH forms also may vary significantly based on the location and type of mutation in the gene of interest. Understanding these genotype-phenotype relationships and associated natural disease histories is necessary for the successfu …
The genotype-phenotype relationships among USH forms also may vary significantly based on the location and type of mutation in the ge …
PHACE syndrome: clinical manifestations, diagnostic criteria, and management.
Rotter A, Samorano LP, Rivitti-Machado MC, Oliveira ZNP, Gontijo B. Rotter A, et al. An Bras Dermatol. 2018 Jun;93(3):405-411. doi: 10.1590/abd1806-4841.20187693. An Bras Dermatol. 2018. PMID: 29924216 Free PMC article. Review.
In 1996, PHACE syndrome was first defined as the association of large and segmental infantile hemangioma, usually on the face, head, or cervical region, with malformations of the posterior fossa of the brain, arterial anomalies of the central nervous system, coarctation of the ao …
In 1996, PHACE syndrome was first defined as the association of large and segmental infantile hemangioma, usually on the face, head, or cerv …
Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype-Phenotype Correlation.
Gavril EC, Popescu R, Nucă I, Ciobanu CG, Butnariu LI, Rusu C, Pânzaru MC. Gavril EC, et al. Genes (Basel). 2022 Nov 10;13(11):2083. doi: 10.3390/genes13112083. Genes (Basel). 2022. PMID: 36360320 Free PMC article.
A total of 14 atypical new deletions were identified: 2 proximal deletions LCR A-B, 1 CES (Cat Eye Syndrome region) to LCR B deletion, 4 nested deletions LCR B-D and 1 LCR C-D, 3 LCR A-E deletions, 1 LCR D-E, and 2 small single gene deletions: delDGCR8 and delTOP3B. ...
A total of 14 atypical new deletions were identified: 2 proximal deletions LCR A-B, 1 CES (Cat Eye Syndrome region) to LCR B deletion …
Anophthalmia including next-generation sequencing-based approaches.
Harding P, Brooks BP, FitzPatrick D, Moosajee M. Harding P, et al. Eur J Hum Genet. 2020 Mar;28(3):388-398. doi: 10.1038/s41431-019-0479-1. Epub 2019 Jul 29. Eur J Hum Genet. 2020. PMID: 31358957 Free PMC article.
Name of the analysed genes or DNA/chromosome segments and OMIM# of the gene(s) Core genes (irrespective of being tested by Sanger sequencing or next-generation sequencing): See Table 1, Column 4-"Cytogenetic location", Column 5-"Associated gene(s)" and Column 6-"OMIM# of a …
Name of the analysed genes or DNA/chromosome segments and OMIM# of the gene(s) Core genes (irrespective of being tested by Sanger sequencing …
798 results