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

Year Number of Results
1969 1
1970 1
1976 1
1981 2
1982 1
1983 1
1986 1
1988 3
1991 1
1992 5
1993 4
1994 2
1995 5
1996 2
1997 5
1998 4
1999 4
2000 3
2001 2
2002 1
2003 2
2004 5
2005 6
2006 5
2007 8
2008 5
2010 2
2011 6
2012 4
2013 4
2014 12
2015 4
2016 4
2017 9
2018 13
2019 13
2020 8
2021 6
2022 5
2023 5
2024 1

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159 results

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Page 1
FOXE3 mutations: genotype-phenotype correlations.
Plaisancié J, Ragge NK, Dollfus H, Kaplan J, Lehalle D, Francannet C, Morin G, Colineaux H, Calvas P, Chassaing N. Plaisancié J, et al. Clin Genet. 2018 Apr;93(4):837-845. doi: 10.1111/cge.13177. Clin Genet. 2018. PMID: 29136273 Review.
Microphthalmia and anophthalmia (MA) are severe developmental eye anomalies, many of which are likely to have an underlying genetic cause. ...
Microphthalmia and anophthalmia (MA) are severe developmental eye anomalies, many of which are likely to have an underlying genetic c …
Anophthalmia and microphthalmia.
Verma AS, Fitzpatrick DR. Verma AS, et al. Orphanet J Rare Dis. 2007 Nov 26;2:47. doi: 10.1186/1750-1172-2-47. Orphanet J Rare Dis. 2007. PMID: 18039390 Free PMC article. Review.
Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. ...Anophthalmia/microphthalmia have complex aetiology with chromosomal, monogenic and environmental causes identified. ...
Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. ... …
The genetics of anophthalmia and microphthalmia.
Bardakjian TM, Schneider A. Bardakjian TM, et al. Curr Opin Ophthalmol. 2011 Sep;22(5):309-13. doi: 10.1097/ICU.0b013e328349b004. Curr Opin Ophthalmol. 2011. PMID: 21825993 Review.
PURPOSE OF REVIEW: To summarize recent breakthroughs regarding the genes known to play a role in normal ocular development in humans and to elucidate the role mutations in these genes play in anophthalmia and microphthalmia. RECENT FINDINGS: The main themes discussed withi …
PURPOSE OF REVIEW: To summarize recent breakthroughs regarding the genes known to play a role in normal ocular development in humans and to …
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
Plaisancié J, Ceroni F, Holt R, Zazo Seco C, Calvas P, Chassaing N, Ragge NK. Plaisancié J, et al. Hum Genet. 2019 Sep;138(8-9):799-830. doi: 10.1007/s00439-019-01977-y. Epub 2019 Feb 14. Hum Genet. 2019. PMID: 30762128 Review.
Disruption of any one of these events has the potential to cause ocular growth and structural defects, such as anophthalmia and microphthalmia (A/M). A/M can be isolated or occur with systemic anomalies, when they may form part of a recognizable syndrome. ...
Disruption of any one of these events has the potential to cause ocular growth and structural defects, such as anophthalmia and micro …
Mouse models for microphthalmia, anophthalmia and cataracts.
Graw J. Graw J. Hum Genet. 2019 Sep;138(8-9):1007-1018. doi: 10.1007/s00439-019-01995-w. Epub 2019 Mar 27. Hum Genet. 2019. PMID: 30919050 Free PMC article. Review.
The phenotypes of the mutants represent a continuous spectrum either in anophthalmia and microphthalmia, or in microphthalmia and cataracts. On the other side, mouse models are still missing for some genes, which have been identified in human families to be causative for …
The phenotypes of the mutants represent a continuous spectrum either in anophthalmia and microphthalmia, or in microphthalmia and cat …
Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life.
Fahnehjelm C, Dafgård Kopp E, Wincent J, Güven E, Nilsson M, Olsson M, Teär Fahnehjelm K. Fahnehjelm C, et al. Ophthalmic Genet. 2022 Apr;43(2):172-183. doi: 10.1080/13816810.2021.1989600. Epub 2022 Feb 2. Ophthalmic Genet. 2022. PMID: 35105264 Review.
PURPOSE: To report ocular outcome, somatic co-morbidities, genetics, and quality of life in children born with anophthalmia (A) or microphthalmia (M). METHODS: Thirty-five children (19 boys) with A/M underwent ophthalmological examinations and a review of medical records. …
PURPOSE: To report ocular outcome, somatic co-morbidities, genetics, and quality of life in children born with anophthalmia (A) or mi …
Post-enucleation socket syndrome-a novel pathophysiological definition.
Rokohl AC, Kopecky A, Trester M, Wawer Matos PA, Pine KR, Heindl LM. Rokohl AC, et al. Graefes Arch Clin Exp Ophthalmol. 2022 Aug;260(8):2427-2431. doi: 10.1007/s00417-022-05648-z. Epub 2022 Apr 2. Graefes Arch Clin Exp Ophthalmol. 2022. PMID: 35366081 Free PMC article. Review.
Pediatric orbital lesions: ocular pathologies.
Gerrie SK, Rajani H, Branson HM, Lyons CJ, Marie E, Frayn CS, Hughes ECM, Navarro OM. Gerrie SK, et al. Pediatr Radiol. 2024 May;54(6):876-896. doi: 10.1007/s00247-024-05869-w. Epub 2024 Feb 7. Pediatr Radiol. 2024. PMID: 38321238 Review.
These include congenital and developmental lesions (microphthalmos, anophthalmos, persistent fetal vasculature, coloboma, morning glory disc anomaly, retinopathy of prematurity, Coats disease), optic disc drusen, infective and inflammatory lesions (uveitis, toxocariasis, t …
These include congenital and developmental lesions (microphthalmos, anophthalmos, persistent fetal vasculature, coloboma, morning glo …
Eye Socket Regeneration and Reconstruction.
Borrelli M, Geerling G, Spaniol K, Witt J. Borrelli M, et al. Curr Eye Res. 2020 Mar;45(3):253-264. doi: 10.1080/02713683.2020.1712423. Epub 2020 Jan 10. Curr Eye Res. 2020. PMID: 31910675 Review.
159 results