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

Year Number of Results
1967 1
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1993 1
1994 2
1998 2
2006 1
2008 2
2011 1
2012 1
2013 1
2016 1
2018 2
2019 1
2020 1
2022 1
2024 0

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20 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.
Among these, is the FOXE3 gene, which was initially described in individuals with dominantly inherited anterior segment dysgenesis and, subsequently, associated with recessively inherited primary aphakia, sclerocornea and microphthalmia. In this work, we describe 8 individ …
Among these, is the FOXE3 gene, which was initially described in individuals with dominantly inherited anterior segment dysgenesis and, subs …
Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature.
Quiroz-Casian N, Chacon-Camacho OF, Barragan-Arevalo T, Nava-Valdez J, Lieberman E, Salgado-Medina A, Navas A, Graue-Hernandez EO, Zenteno JC. Quiroz-Casian N, et al. Cornea. 2018 Sep;37(9):1178-1181. doi: 10.1097/ICO.0000000000001655. Cornea. 2018. PMID: 29878917 Review.
PURPOSE: To describe 2 sporadic Mexican patients having congenital bilateral, total sclerocornea, aphakia, and microphthalmia associated with novel mutations in the FOXE3 gene. METHODS: Two affected individuals with congenital bilateral, total sclerocornea, aphakia, …
PURPOSE: To describe 2 sporadic Mexican patients having congenital bilateral, total sclerocornea, aphakia, and microphthalmia associa …
[Keratoplasty in children : Indications and results].
Lang SJ, Böhringer D, Reinhard T. Lang SJ, et al. Ophthalmologe. 2020 Mar;117(3):215-217. doi: 10.1007/s00347-019-01006-3. Ophthalmologe. 2020. PMID: 31713069 Review. German.
Diseases with a favorable prognosis include keratoconus and herpetic keratitis. Especially sclerocornea and the Peters' anomaly often have a limited prognosis regarding vision and graft survival due to secondary malformations of the eye. ...
Diseases with a favorable prognosis include keratoconus and herpetic keratitis. Especially sclerocornea and the Peters' anomaly often …
Chromosome abnormalities and the genetics of congenital corneal opacification.
Mataftsi A, Islam L, Kelberman D, Sowden JC, Nischal KK. Mataftsi A, et al. Mol Vis. 2011;17:1624-40. Epub 2011 Jun 17. Mol Vis. 2011. PMID: 21738392 Free PMC article. Review.
Terminology used in clinical phenotyping is commonly not specific enough to describe separate entities, for example both the terms Peters anomaly and sclerocornea have been ascribed to a clinical picture of total CCO, without investigating the presence or absence of iridoc …
Terminology used in clinical phenotyping is commonly not specific enough to describe separate entities, for example both the terms Peters an …
Ocular manifestations of genetic and developmental diseases.
Diamond G. Diamond G. Curr Opin Ophthalmol. 1994 Dec;5(6):72-8. doi: 10.1097/00055735-199412000-00012. Curr Opin Ophthalmol. 1994. PMID: 10150831 Review.
Finally, another case of the newly described association of microphthalmia, dermal aplasia, and sclerocornea (MIDAS syndrome) is reported....
Finally, another case of the newly described association of microphthalmia, dermal aplasia, and sclerocornea (MIDAS syndrome) is repo …
[Keratoplasty in children--still a dilemma].
Seitz B, Hager T, Szentmáry N, Langenbucher A, Naumann G. Seitz B, et al. Klin Monbl Augenheilkd. 2013 Jun;230(6):587-94. doi: 10.1055/s-0032-1328653. Epub 2013 Jun 21. Klin Monbl Augenheilkd. 2013. PMID: 23794428 Review. German.
RESULTS: To minimise the risk of immunological graft rejection and chronic endothelial cell loss, we prefer PTK, lamellar keratoplasty or ipsilateral autologous rotational keratoplasty whenever possible. In cases of sclerocornea we feel that PKP should be avoided in view o …
RESULTS: To minimise the risk of immunological graft rejection and chronic endothelial cell loss, we prefer PTK, lamellar keratoplasty or ip …
X-chromosome inactivation: role in skin disease expression.
Happle R. Happle R. Acta Paediatr Suppl. 2006 Apr;95(451):16-23. doi: 10.1080/08035320600618775. Acta Paediatr Suppl. 2006. PMID: 16720460 Review.
This arrangement of lesions is observed in male-lethal X-linked traits, such as incontinentia pigmenti, focal dermal hypoplasia, Conradi-Hunermann-Happle syndrome, oral-facial-digital syndrome type 1 and MIDAS (microphthalmia, dermal aplasia and sclerocornea) syndrome, as …
This arrangement of lesions is observed in male-lethal X-linked traits, such as incontinentia pigmenti, focal dermal hypoplasia, Conradi-Hun …
A new approach to the classification of neonatal corneal opacities.
Nischal KK. Nischal KK. Curr Opin Ophthalmol. 2012 Sep;23(5):344-54. doi: 10.1097/ICU.0b013e328356893d. Curr Opin Ophthalmol. 2012. PMID: 22871880 Review.
RECENT FINDINGS: Recent literature has demonstrated that certain terms such as 'sclerocornea' are unhelpful when alluding to total NCO. The term Peters anomaly has also become a 'waste paper basket' diagnosis for anterior segment developmental anomalies. ...
RECENT FINDINGS: Recent literature has demonstrated that certain terms such as 'sclerocornea' are unhelpful when alluding to total NC …
Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature.
Doane JF, Sajjadi H, Richardson WP. Doane JF, et al. Cornea. 1994 Sep;13(5):454-8. doi: 10.1097/00003226-199409000-00014. Cornea. 1994. PMID: 7995071 Review.
An 8-month-old caucasian girl with monosomy 21 and sclerocornea underwent bilateral penetrating keratoplasties. Both light and electron microscopic studies were performed on the corneal buttons. ...We believe this to be the first report of corneal transplantation and the s …
An 8-month-old caucasian girl with monosomy 21 and sclerocornea underwent bilateral penetrating keratoplasties. Both light and electr …
20 results