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4,875 results

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Quoted phrase not found in phrase index: "Congenital anomaly of eye"
Page 1
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics; Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Bachmann-Gagescu R, et al. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.
BACKGROUND: Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a distinctive mid-hindbrain malformation. ...Variant pathogenicity was define …
BACKGROUND: Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnor …
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM. Meuwissen ME, et al. Genet Med. 2015 Nov;17(11):843-53. doi: 10.1038/gim.2014.210. Epub 2015 Feb 26. Genet Med. 2015. PMID: 25719457 Free article. Review.
COL4A1 and COL4A2 mutations have been reported with a broader spectrum of cerebrovascular, renal, ophthalmological, cardiac, and muscular abnormalities, indicated as "COL4A1 mutation-related disorders." Genetic counseling is challenging because of broad phenotypic variatio …
COL4A1 and COL4A2 mutations have been reported with a broader spectrum of cerebrovascular, renal, ophthalmological, cardiac, and muscular …
Normal and abnormal foveal development.
Thomas MG, Papageorgiou E, Kuht HJ, Gottlob I. Thomas MG, et al. Br J Ophthalmol. 2022 May;106(5):593-599. doi: 10.1136/bjophthalmol-2020-316348. Epub 2020 Nov 4. Br J Ophthalmol. 2022. PMID: 33148537 Review.
The maturity of the fovea can be assessed invivo using optical coherence tomography, which in normal development would show a well-developed foveal pit, extrusion of IRLs, thickened outer nuclear layer and long outer segments. Developmental abnormalities of various degrees …
The maturity of the fovea can be assessed invivo using optical coherence tomography, which in normal development would show a well-developed …
Ocular manifestations in classic homocystinuria.
Gus PI, Donis KC, Marinho D, Martins TF, de Souza CFM, Carloto RB, Leivas G, Schwartz IVD. Gus PI, et al. Ophthalmic Genet. 2021 Feb;42(1):71-74. doi: 10.1080/13816810.2020.1821384. Epub 2020 Sep 17. Ophthalmic Genet. 2021. PMID: 32940091
Main clinical features may include skeletal and vascular manifestations, developmental delay, intellectual disability and eye disorders. MATERIAL AND METHODS: This is an observational and retrospective study aiming at describing eye abnormalities prese …
Main clinical features may include skeletal and vascular manifestations, developmental delay, intellectual disability and eye disorde …
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Aksu Uzunhan T, Ertürk B, Aydın K, Ayaz A, Altunoğlu U, Yarar MH, Gezdirici A, İçağasıoğlu DF, Gökpınar İli E, Uyanık B, Eser M, Kutbay YB, Topçu Y, Kılıç B, Bektaş G, Arduç Akçay A, Ekici B, Chousein A, Avcı Ş, Yüksel A, Kayserili H. Aksu Uzunhan T, et al. Clin Neurol Neurosurg. 2023 Jan;224:107560. doi: 10.1016/j.clineuro.2022.107560. Epub 2022 Dec 13. Clin Neurol Neurosurg. 2023. PMID: 36580738
RESULTS: The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1, ARMC9, CEP41, CSPP1, HYLS1, KATNIP, KIAA0586, KIF7, RPGRIP1L, including some previously unreported variants in these genes. Multi-systemic organ involvement was …
RESULTS: The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1, ARMC9, CEP41, CSPP1, H …
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
Radha Rama Devi A, Naushad SM, Lingappa L. Radha Rama Devi A, et al. Pediatr Neurol. 2020 May;106:43-49. doi: 10.1016/j.pediatrneurol.2020.01.012. Epub 2020 Feb 4. Pediatr Neurol. 2020. PMID: 32139166
BACKGROUND: Joubert syndrome and related disorders are a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities. Molar tooth sign in brain imaging is the hallmark for diagnosis. ... …
BACKGROUND: Joubert syndrome and related disorders are a group of ciliopathies characterized by mid-hindbrain malformation, developmental de …
Aicardi syndrome.
Rosser T. Rosser T. Arch Neurol. 2003 Oct;60(10):1471-3. doi: 10.1001/archneur.60.10.1471. Arch Neurol. 2003. PMID: 14568821 Review.
The astute observations of Aicardi and colleagues led to the first description of Aicardi syndrome as a triad of infantile spasms, absence of the corpus callosum, and chorioretinal lacunae. ...
The astute observations of Aicardi and colleagues led to the first description of Aicardi syndrome as a triad of infantile spasms, ab …
Long-Term Visual Outcomes and Clinical Course of Patients With Peters Anomaly.
Elbaz U, Strungaru H, Mireskandari K, Stephens D, Ali A. Elbaz U, et al. Cornea. 2021 Jul 1;40(7):822-830. doi: 10.1097/ICO.0000000000002577. Cornea. 2021. PMID: 33156080
PURPOSE: To present long-term clinical and visual outcomes of patients with Peters anomaly. METHODS: The charts of all patients diagnosed with Peters anomaly from January 2000 to December 2012 were reviewed retrospectively. ...Mild cases were observed. Modera …
PURPOSE: To present long-term clinical and visual outcomes of patients with Peters anomaly. METHODS: The charts of all patients diagn …
EXTENT AND LOCATION OF INTRARETINAL AND SUBRETINAL FLUID AS PROGNOSTIC FACTORS FOR THE OUTCOME OF PATIENTS WITH OPTIC DISK PIT MACULOPATHY.
Steel DH, Williamson TH, Laidlaw DA, Sharma P, Matthews C, Rees J, Petrou P, Charteris DG, Charles SJ, Patel CK, Crama N, Herbert E, Jackson TL. Steel DH, et al. Retina. 2016 Jan;36(1):110-8. doi: 10.1097/IAE.0000000000000658. Retina. 2016. PMID: 26166800 Review.
Cases where the fluid did not extend to the macular arcade vessels also had better visual and anatomical outcomes (P = 0.004 and 0.005, respectively). CONCLUSION: Fundoscopic and OCT features can help predict surgical outcome in optic disk pit maculopathy....
Cases where the fluid did not extend to the macular arcade vessels also had better visual and anatomical outcomes (P = 0.004 and 0.005, resp …
Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
Miroševič Š, Khandelwal S, Sušjan P, Žakelj N, Gosar D, Forstnerič V, Lainšček D, Jerala R, Osredkar D. Miroševič Š, et al. Int J Mol Sci. 2022 Oct 19;23(20):12564. doi: 10.3390/ijms232012564. Int J Mol Sci. 2022. PMID: 36293418 Free PMC article. Review.
Information was collected on patients' genetic mutations, prenatal and neonatal problems, head circumference, muscle tone, EEG and MRI results, dysmorphic features, eye abnormalities, early development, language and comprehension, behavioral characteristics, and add …
Information was collected on patients' genetic mutations, prenatal and neonatal problems, head circumference, muscle tone, EEG and MRI resul …
4,875 results