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
1997 1
1999 1
2020 1
2022 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Page 1
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.
RESULTS: Age at examination ranged from 7 months to 18 years (median 2.3 years). Ten cases were totally blind or had light perception. Isolated A/M occurred in 16/35 cases, while somatic, psychomotor, neuroradiological and/or genetic pathology occurred in 19/35 case …
RESULTS: Age at examination ranged from 7 months to 18 years (median 2.3 years). Ten cases were totally blind or had light perception …
The regulation of tyrosinase gene transcription.
Ferguson CA, Kidson SH. Ferguson CA, et al. Pigment Cell Res. 1997 Jun;10(3):127-38. doi: 10.1111/j.1600-0749.1997.tb00474.x. Pigment Cell Res. 1997. PMID: 9266599 Review.
The 5' promoter regions of the human, mouse, chicken, quail, snapping turtle, and frog tyrosinase sequences have been isolated and the mechanisms regulating the activity of these sequences are beginning to be elucidated. ...
The 5' promoter regions of the human, mouse, chicken, quail, snapping turtle, and frog tyrosinase sequences have been isolated and th …
Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature.
Kotani T, Tsuda H, Ito Y, Nakamura N, Ushida T, Imai K, Iitani Y, Fuma K, Muramatsu Y, Hayakawa M, Kajiyama H. Kotani T, et al. J Med Case Rep. 2022 Dec 27;16(1):481. doi: 10.1186/s13256-022-03713-z. J Med Case Rep. 2022. PMID: 36572904 Free PMC article. Review.
At 38 + 0 weeks, she delivered a 1774 g female infant. The infant presented with isolated esophageal atresia (Gross type A), Dandy-Walker malformation, right microphthalmia, left coloboma, overlapping fingers, pleurocentrum in the thoracic vertebrae, reduced anogeni …
At 38 + 0 weeks, she delivered a 1774 g female infant. The infant presented with isolated esophageal atresia (Gross type A), Dandy-Wa …
Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations.
Matsushita I, Morita H, Kondo H. Matsushita I, et al. Jpn J Ophthalmol. 2020 Nov;64(6):635-641. doi: 10.1007/s10384-020-00766-9. Epub 2020 Aug 28. Jpn J Ophthalmol. 2020. PMID: 32857266 Review.
PURPOSE: Autosomal dominant foveal hypoplasia (FVH1) is a rare disorder associated with mutations in the PAX6 gene. As an isolated disease entity, FVH1 does not include ocular disorders such as aniridia, microphthalmia, albinism, and achromatopsia. However, it only …
PURPOSE: Autosomal dominant foveal hypoplasia (FVH1) is a rare disorder associated with mutations in the PAX6 gene. As an isolated di …
Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).
Driggers RW, Macri CJ, Greenwald J, Carpenter D, Avallone J, Howard-Peebles PN, Levin SW. Driggers RW, et al. Am J Med Genet. 1999 Nov 26;87(3):201-2. doi: 10.1002/(sici)1096-8628(19991126)87:3<201::aid-ajmg1>3.0.co;2-h. Am J Med Genet. 1999. PMID: 10564870 Review.
However, other causes such as chromosomal abnormalities and prenatal insults need to be considered. We report on a unique reciprocal translocation 46,XX,t(3;11)(q27;p11.2) in a baby with isolated anophthalmos. Both Chitayat et al. [1996] and Alvarez Arratia et al. [ …
However, other causes such as chromosomal abnormalities and prenatal insults need to be considered. We report on a unique reciprocal translo …