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Quoted phrase not found in phrase index: "Isolated microphthalmia 3"
Page 1
Children and young adults with anophthalmia and microphthalmia: Diagnosis and Management.
Taha Najim R, Topa A, Jugård Y, Casslén B, Odersjö M, Andersson Grönlund M. Taha Najim R, et al. Acta Ophthalmol. 2020 Dec;98(8):848-858. doi: 10.1111/aos.14427. Epub 2020 May 21. Acta Ophthalmol. 2020. PMID: 32436650 Free article.
PURPOSE: Congenital anophthalmia (A) and microphthalmia (M) are rare developmental defects, which could be isolated or syndromic. ...Genetic screening with microarray and whole-exome sequencing targeting 121 A/M-related genes was performed. RESULTS: A/M appeared …
PURPOSE: Congenital anophthalmia (A) and microphthalmia (M) are rare developmental defects, which could be isolated or syndrom …
Surgical and prosthetic treatment for microphthalmia syndromes.
Wavreille O, François Fiquet C, Abdelwahab O, Laumonier E, Wolber A, Guerreschi P, Pellerin P. Wavreille O, et al. Br J Oral Maxillofac Surg. 2013 Mar;51(2):e17-21. doi: 10.1016/j.bjoms.2012.02.018. Epub 2012 Mar 30. Br J Oral Maxillofac Surg. 2013. PMID: 22464758
The patients were divided into three groups: isolated microphthalmia, microphthalmia associated with micro-orbitism, and complex microphthalmia syndrome. ...Forty-four children were included (27 boys and 17 girls). Twenty-seven had unilateral microp
The patients were divided into three groups: isolated microphthalmia, microphthalmia associated with micro-orbitism, an …
Molecular Markers in Maternal Blood Exosomes Allow Early Detection of Fetal Alcohol Spectrum Disorders.
Darbinian N, Darbinyan A, Sinard J, Tatevosian G, Merabova N, D'Amico F, Khader T, Bajwa A, Martirosyan D, Gawlinski AK, Pursnani R, Zhao H, Amini S, Morrison M, Goetzl L, Selzer ME. Darbinian N, et al. Int J Mol Sci. 2022 Dec 21;24(1):135. doi: 10.3390/ijms24010135. Int J Mol Sci. 2022. PMID: 36613580 Free PMC article.
Alcohol (EtOH)-exposed (maternal self-report) fetuses were compared with unexposed controls matched for fetal age, sex, and maternal race. Fetal brain-derived exosomes (FB-E) were isolated from maternal blood and analyzed for protein, RNA, and apoptotic markers. ...Althoug …
Alcohol (EtOH)-exposed (maternal self-report) fetuses were compared with unexposed controls matched for fetal age, sex, and maternal race. F …
Long-term postnatal outcome of fetuses with prenatally suspected septo-optic dysplasia.
Shinar S, Blaser S, Chitayat D, Selvanathan T, Chau V, Shannon P, Agrawal S, Ryan G, Pruthi V, Miller SP, Krishnan P, Van Mieghem T. Shinar S, et al. Ultrasound Obstet Gynecol. 2020 Sep;56(3):371-377. doi: 10.1002/uog.22018. Ultrasound Obstet Gynecol. 2020. PMID: 32196785 Free PMC article.
The other three confirmed SOD cases had no predictive prenatal or postnatal imaging findings that reliably differentiated them from cases without confirmed SOD. ...CONCLUSIONS: Only a quarter of fetuses with isolated septal agenesis suggestive of SOD will have postn …
The other three confirmed SOD cases had no predictive prenatal or postnatal imaging findings that reliably differentiated them from c …
Comparison of mesenchymal stem cells isolated from pulp and periodontal ligament.
Hakki SS, Kayis SA, Hakki EE, Bozkurt SB, Duruksu G, Unal ZS, Turaç G, Karaoz E. Hakki SS, et al. J Periodontol. 2015 Feb;86(2):283-91. doi: 10.1902/jop.2014.140257. Epub 2014 Oct 17. J Periodontol. 2015. PMID: 25325708
Telomerase activity was evaluated by a telomeric repeat amplification protocol assay based on enzyme-linked immunosorbent assay. Total RNA was isolated from the MSCs on day 3. A polymerase chain reaction (PCR) array was used to compare the expression of MSC-specific genes. …
Telomerase activity was evaluated by a telomeric repeat amplification protocol assay based on enzyme-linked immunosorbent assay. Total RNA w …
Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.
Vidya NG, Rajkumar S, Vasavada AR. Vidya NG, et al. Ophthalmic Genet. 2018 Jun;39(3):344-352. doi: 10.1080/13816810.2018.1436184. Epub 2018 Feb 20. Ophthalmic Genet. 2018. PMID: 29461140
Hence, the present study aims to investigate mutations in 15 ocular developmental genes in patients with anophthalmia and microphthalmia in the western region of India. MATERIALS AND METHODS: Genomic DNA was isolated from the blood of 52 individuals affected with …
Hence, the present study aims to investigate mutations in 15 ocular developmental genes in patients with anophthalmia and microphthalmia
New mutations in GJA8 expand the phenotype to include total sclerocornea.
Ma AS, Grigg JR, Prokudin I, Flaherty M, Bennetts B, Jamieson RV. Ma AS, et al. Clin Genet. 2018 Jan;93(1):155-159. doi: 10.1111/cge.13045. Epub 2017 Sep 8. Clin Genet. 2018. PMID: 28455998
This project expands the disease spectrum for mutations in GJA8 to include total sclerocornea, rudimentary lenses and microphthalmia, in addition to this gene's previously known role in isolated congenital cataracts. ...(Asp51Asn) mutation we had previously identifi …
This project expands the disease spectrum for mutations in GJA8 to include total sclerocornea, rudimentary lenses and microphthalmia, …
Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India.
Tibrewal S, Subhedar K, Sen P, Mohan A, Singh S, Shah C, Nischal KK, Ganesh S; Bodhya Eye Consortium. Tibrewal S, et al. Br J Ophthalmol. 2021 Jul;105(7):897-903. doi: 10.1136/bjophthalmol-2020-316910. Epub 2020 Aug 22. Br J Ophthalmol. 2021. PMID: 32829301
Children with complete clinical data and without syndromic/systemic involvement were included. The clinical phenotype was divided into isolated ocular coloboma (CB), coloboma with microcornea (CBMC), colobomatous microphthalmos (CBMO), non-colobomatous microphtha
Children with complete clinical data and without syndromic/systemic involvement were included. The clinical phenotype was divided into is
Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia.
Wen S, Min X, Zhu Y, Zhou X. Wen S, et al. BMC Pediatr. 2022 May 24;22(1):305. doi: 10.1186/s12887-021-02992-7. BMC Pediatr. 2022. PMID: 35610621 Free PMC article.
CASE PRESENTATION: A 3-year-old and an 8-year-old boy, both Chinese children clinically manifested as bilateral excessive hyperopia (+10.00), severe amblyopia and exotropia, have been genetically diagnosed as Senior-Loken syndrome-5 (SLSN5) and isolated posterior microp
CASE PRESENTATION: A 3-year-old and an 8-year-old boy, both Chinese children clinically manifested as bilateral excessive hyperopia (+10.00) …
Medical Management of Children With Congenital/Infantile Cataract Associated With Microphthalmia, Microcornea, or Persistent Fetal Vasculature.
Daniel MC, Adams GGW, Dahlmann-Noor A. Daniel MC, et al. J Pediatr Ophthalmol Strabismus. 2019 Jan 23;56(1):43-49. doi: 10.3928/1081597X-20180924-01. Epub 2018 Oct 26. J Pediatr Ophthalmol Strabismus. 2019. PMID: 30371912
PURPOSE: To report the surgical outcomes of children with cataract associated with microphthalmia, microcornea, or persistent fetal vasculature (MMP) and children with isolated cataract. ...RESULTS: Median age at surgery was 3.9 months for cataract associated with M …
PURPOSE: To report the surgical outcomes of children with cataract associated with microphthalmia, microcornea, or persistent fetal v …
20 results