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The following term was not found in PubMed: Blepharoptosis-myopia-ectopia
Page 1
Marfan syndrome.
Milewicz DM, Braverman AC, De Backer J, Morris SA, Boileau C, Maumenee IH, Jondeau G, Evangelista A, Pyeritz RE. Milewicz DM, et al. Nat Rev Dis Primers. 2021 Sep 2;7(1):64. doi: 10.1038/s41572-021-00298-7. Nat Rev Dis Primers. 2021. PMID: 34475413 Free PMC article. Review.
Marfan syndrome (MFS) is an autosomal dominant, age-related but highly penetrant condition with substantial intrafamilial and interfamilial variability. ...The most prominent manifestations of MFS are asymptomatic aortic root aneurysms, aortic dissections, dislocation of t …
Marfan syndrome (MFS) is an autosomal dominant, age-related but highly penetrant condition with substantial intrafamilial and interfa …
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC. Kline AD, et al. Nat Rev Genet. 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0. Nat Rev Genet. 2018. PMID: 29995837 Free PMC article. Review.
Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. ...
Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-d …
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
Sakai LY, Keene DR, Renard M, De Backer J. Sakai LY, et al. Gene. 2016 Oct 10;591(1):279-291. doi: 10.1016/j.gene.2016.07.033. Epub 2016 Jul 18. Gene. 2016. PMID: 27437668 Free PMC article. Review.
Fibrillin microfibrils are morphologically distinctive fibrils, present in all connective tissues and assembled into tissue-specific architectural frameworks. FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features in …
Fibrillin microfibrils are morphologically distinctive fibrils, present in all connective tissues and assembled into tissue-specific archite …
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC. Zollino M, et al. Clin Genet. 2019 Apr;95(4):462-478. doi: 10.1111/cge.13506. Epub 2019 Feb 18. Clin Genet. 2019. PMID: 30677142 Review.
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial features, and marked autonomic nervous system dysfunction, especially with disturbances of regulating respiration and intestinal mobility. ...For issues, …
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial features, and …
Zinn's zonule.
Bassnett S. Bassnett S. Prog Retin Eye Res. 2021 May;82:100902. doi: 10.1016/j.preteyeres.2020.100902. Epub 2020 Sep 25. Prog Retin Eye Res. 2021. PMID: 32980533 Free PMC article. Review.
Rupture of zonular fibers and subsequent lens dislocation (ectopia lentis) can result from blunt force trauma or be a sequela of other eye diseases, notably exfoliation syndrome. Ectopia lentis is also a feature of syndromic conditions caused typically …
Rupture of zonular fibers and subsequent lens dislocation (ectopia lentis) can result from blunt force trauma or be a sequela of othe …
Self-injurious behavior.
Huisman S, Mulder P, Kuijk J, Kerstholt M, van Eeghen A, Leenders A, van Balkom I, Oliver C, Piening S, Hennekam R. Huisman S, et al. Neurosci Biobehav Rev. 2018 Jan;84:483-491. doi: 10.1016/j.neubiorev.2017.02.027. Epub 2017 Jul 8. Neurosci Biobehav Rev. 2018. PMID: 28694012 Free article. Review.
There is increasing attention for somatic substrates of behavior in genetic syndromes, and growing evidence of an association between pain and discomfort with SIB in people with ID and genetic syndromes. ...We demonstrate that the prevalence of SIB in several well-k …
There is increasing attention for somatic substrates of behavior in genetic syndromes, and growing evidence of an association between …
Eyes and the heart: what a clinician should know.
Ng JY, Zarook E, Nicholson L; Oculi-Cordis group; Khanji MY, Chahal CAA. Ng JY, et al. Heart. 2023 Oct 26;109(22):1670-1676. doi: 10.1136/heartjnl-2022-322081. Heart. 2023. PMID: 37507215 Free PMC article. Review.
Myasthenia gravis, while primarily a neuromuscular disease, presents with fatigable ptosis and is associated with Takotsubo cardiomyopathy and giant cell myocarditis. Connective tissue diseases such as Marfan syndrome, which commonly presents with aortic root dilatation, w …
Myasthenia gravis, while primarily a neuromuscular disease, presents with fatigable ptosis and is associated with Takotsubo cardiomyopathy a …
[Hereditary ectopia lentis].
Neuhann TM. Neuhann TM. Klin Monbl Augenheilkd. 2015 Mar;232(3):259-65. doi: 10.1055/s-0034-1383330. Epub 2015 Feb 5. Klin Monbl Augenheilkd. 2015. PMID: 25654236 Review. German.
If not due to trauma, ectopia lentis is usually caused genetically. It is a main symptom of several syndromal disorders such as Marfan syndrome or homocystinuria. ...This review describes the different types and genetic causes of syndromal and isolated …
If not due to trauma, ectopia lentis is usually caused genetically. It is a main symptom of several syndromal disorders such a …
Genetics of ectopia lentis.
Sadiq MA, Vanderveen D. Sadiq MA, et al. Semin Ophthalmol. 2013 Sep-Nov;28(5-6):313-20. doi: 10.3109/08820538.2013.825276. Semin Ophthalmol. 2013. PMID: 24138040 Review.
Hereditary ectopia lentis or lens subluxation can occur with and without systemic associations. Significant overlap can be found in the genetic mutations and pathogenesis of subluxated lenses in their isolated forms as well as with associated syndromes. Gene mutatio …
Hereditary ectopia lentis or lens subluxation can occur with and without systemic associations. Significant overlap can be found in t …
Ectopia lentis surgery in Marfan's syndrome: from "couching" to the use of intracapsular tension rings.
Dogăroiu AC, Dogăroiu C, Tătaru CP. Dogăroiu AC, et al. Rom J Ophthalmol. 2022 Jan-Mar;66(1):2-7. doi: 10.22336/rjo.2022.2. Rom J Ophthalmol. 2022. PMID: 35531445 Free PMC article. Review.
In the course of time, correction of the ectopia lentis in Marfan's syndrome has been approached through quite many surgical techniques. ...They were steps towards the invention of current techniques and devices that make surgery of ectopia lentis safe, easy, …
In the course of time, correction of the ectopia lentis in Marfan's syndrome has been approached through quite many surgical t …
72 results