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
1977 1
1998 1
2000 1
2012 1
2020 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Microcephaly and chorioretinopathy 2"
Page 1
Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.
Shurygina MF, Simonett JM, Parker MA, Mitchell A, Grigorian F, Lifton J, Nagiel A, Shpak AA, Dadali EL, Mishina IA, Weleber RG, Yang P, Pennesi ME. Shurygina MF, et al. Invest Ophthalmol Vis Sci. 2020 Nov 2;61(13):2. doi: 10.1167/iovs.61.13.2. Invest Ophthalmol Vis Sci. 2020. PMID: 33137195 Free PMC article.
PURPOSE: The purpose of this study was to analyze the natural history and phenotypic overlap of patients with microcephaly and a chorioretinopathy or familial exudative vitreoretinopathy (FEVR) ocular phenotype caused by mutations in KIF11, TUBGCP4, or TUBGCP6. METH …
PURPOSE: The purpose of this study was to analyze the natural history and phenotypic overlap of patients with microcephaly and a c …
Microcephaly with chorioretinal degeneration.
Atchaneeyasakul LO, Linck L, Weleber RG. Atchaneeyasakul LO, et al. Ophthalmic Genet. 1998 Mar;19(1):39-48. doi: 10.1076/opge.19.1.39.2178. Ophthalmic Genet. 1998. PMID: 9587928
Twelve patients, all from separate families, were diagnosed as having microcephaly with chorioretinopathy. Ten of these patients had ISCEV-standard electroretinograms (ERG). ...Three of the 12 were compatible with the autosomal dominant form of microcephaly w …
Twelve patients, all from separate families, were diagnosed as having microcephaly with chorioretinopathy. Ten of these patien …
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S. Ostergaard P, et al. Am J Hum Genet. 2012 Feb 10;90(2):356-62. doi: 10.1016/j.ajhg.2011.12.018. Epub 2012 Jan 26. Am J Hum Genet. 2012. PMID: 22284827 Free PMC article.
We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy. Initial whole-exome sequencing revealed heterozygous KIF11 mutations in three individuals with a combination of m …
We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or …
Autosomal recessive microcephaly associated with chorioretinopathy.
Cantú JM, Rojas JA, García-Cruz D, Hernández A, Pagán P, Fragoso R, Manzano C. Cantú JM, et al. Hum Genet. 1977 Apr 15;36(2):243-7. doi: 10.1007/BF00273265. Hum Genet. 1977. PMID: 870417
Two sisters and their brother affected with microcephaly, microphthalmia, chorioretinal degeneration, and optic atrophy were studied. ...Based on these and previous observations, it seems clear that a distinct form of autosomal recessive microcephaly associated with …
Two sisters and their brother affected with microcephaly, microphthalmia, chorioretinal degeneration, and optic atrophy were studied. …
Lymphocytic choriomeningitis virus: an underdiagnosed cause of congenital chorioretinitis.
Mets MB, Barton LL, Khan AS, Ksiazek TG. Mets MB, et al. Am J Ophthalmol. 2000 Aug;130(2):209-15. doi: 10.1016/s0002-9394(00)00570-5. Am J Ophthalmol. 2000. PMID: 11004296
PURPOSE: To elucidate the role and clinical spectrum of congenital lymphocytic choriomeningitis virus infection as a cause of chorioretinopathy, congenital hydrocephalus, and macrocephaly or microcephaly in the United States. ...Three of 14 cases of chorioretinitis …
PURPOSE: To elucidate the role and clinical spectrum of congenital lymphocytic choriomeningitis virus infection as a cause of chorioretin …