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
1976 1
1999 1
2001 1
2002 2
2003 1
2005 1
2007 1
2008 2
2009 3
2010 1
2011 2
2012 2
2013 2
2014 1
2015 2
2016 1
2017 1
2019 1
2020 4
2021 8
2022 5
2023 4
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

42 results

Results by year

Filters applied: . Clear all
Page 1
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA. Morris AA, et al. J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. J Inherit Metab Dis. 2017. PMID: 27778219 Free PMC article. Review.
Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. ...
Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. …
Molecular pathogenesis and management strategies of ectopia lentis.
Chandra A, Charteris D. Chandra A, et al. Eye (Lond). 2014 Feb;28(2):162-8. doi: 10.1038/eye.2013.274. Epub 2014 Jan 10. Eye (Lond). 2014. PMID: 24406422 Free PMC article. Review.
Ectopia lentis (EL) is a condition that can either herald underlying systemic conditions, or be isolated. ...
Ectopia lentis (EL) is a condition that can either herald underlying systemic conditions, or be isolated. ...
New Management Strategies for Ectopia Lentis.
Simon MA, Origlieri CA, Dinallo AM, Forbes BJ, Wagner RS, Guo S. Simon MA, et al. J Pediatr Ophthalmol Strabismus. 2015 Sep-Oct;52(5):269-81. doi: 10.3928/01913913-20150714-02. Epub 2015 Jul 16. J Pediatr Ophthalmol Strabismus. 2015. PMID: 26181899 Review.
Ectopia lentis refers to displacement of the crystalline lens in the setting of various systemic and metabolic disorders. A literature review was conducted to investigate the management of non-traumatic ectopia lentis in the pediatric population, parti …
Ectopia lentis refers to displacement of the crystalline lens in the setting of various systemic and metabolic disorders. A li …
Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome.
Kemezyte A, Gegieckiene R, Burnyte B. Kemezyte A, et al. BMC Pediatr. 2023 Oct 28;23(1):539. doi: 10.1186/s12887-023-04357-8. BMC Pediatr. 2023. PMID: 37891508 Free PMC article.

Variants that create an extra cysteine residue were found to be associated with a higher risk of ectopia lentis. Additionally, children up to 36-months-old were more often reported as still alive at the time of publication compared to newborns (p < 0.01). CONCLUS

…
Variants that create an extra cysteine residue were found to be associated with a higher risk of ectopia lentis. Additionally, …
The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.
Musleh M, Bull A, Linton E, Liu J, Waller S, Hardcastle C, Clayton-Smith J, Sharma V, Black GC, Biswas S, Ashworth JL, Sergouniotis PI. Musleh M, et al. Genes (Basel). 2023 Mar 25;14(4):791. doi: 10.3390/genes14040791. Genes (Basel). 2023. PMID: 37107549 Free PMC article.
Non-traumatic ectopia lentis can be isolated or herald an underlying multisystemic disorder. ...We propose the introduction of genetic testing early in the diagnostic pathway in children with ectopia lentis....
Non-traumatic ectopia lentis can be isolated or herald an underlying multisystemic disorder. ...We propose the introduction of …
Mutation spectrum and genotype-phenotype correlations in Chinese congenital ectopia lentis patients.
Guo D, Jin G, Zhou Y, Zhang X, Cao Q, Lian Z, Guo Y, Zheng D. Guo D, et al. Exp Eye Res. 2021 Jun;207:108570. doi: 10.1016/j.exer.2021.108570. Epub 2021 Apr 16. Exp Eye Res. 2021. PMID: 33844962
PURPOSE: To identify the spectrum and frequency of mutations in congenital ectopia lentis (CEL) and to investigate the correlations between genotype and clinical phenotype in Chinese CEL patients. ...
PURPOSE: To identify the spectrum and frequency of mutations in congenital ectopia lentis (CEL) and to investigate the correla …
Marfan syndrome: clinical diagnosis and management.
Dean JC. Dean JC. Eur J Hum Genet. 2007 Jul;15(7):724-33. doi: 10.1038/sj.ejhg.5201851. Epub 2007 May 9. Eur J Hum Genet. 2007. PMID: 17487218 Review.
The clinical diagnosis is made using the Ghent nosology, which will unequivocally diagnose or exclude Marfan syndrome in 86% of cases. Use of a care pathway can help implementation of the nosology in the clinic. ...Symptoms in other systems require specialist review such a …
The clinical diagnosis is made using the Ghent nosology, which will unequivocally diagnose or exclude Marfan syndrome in 86% of cases. Use o …
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E, Clayton-Smith J, Douzgou S, Ramsden SC, Ingram S, Hall G, Hardcastle CL, Fletcher TA, Taylor RL, Ellingford JM, Newman WD, Fenerty C, Sharma V, Lloyd IC, Biswas S, Ashworth JL, Black GC, Sergouniotis PI. Lenassi E, et al. Genet Med. 2020 Apr;22(4):745-751. doi: 10.1038/s41436-019-0722-8. Epub 2019 Dec 18. Genet Med. 2020. PMID: 31848469 Free PMC article.
The cohort was collected over a 7-year period (2011-2018) and included 74 children with bilateral cataracts, 8 with bilateral ectopia lentis, 28 with bilateral anterior segment dysgenesis, 32 with albinism, and 59 with inherited retinal disorders. ...The test result …
The cohort was collected over a 7-year period (2011-2018) and included 74 children with bilateral cataracts, 8 with bilateral ectopia …
HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN.
Caruana M, Baars MJ, Bashiardes E, Benke K, Björck E, Codreanu A, de Moya Rubio E, Dumfarth J, Evangelista A, Groenink M, Kallenbach K, Kempers M, Keravnou A, Loeys B, Muiño-Mosquera L, Nagy E, Milleron O, Nistri S, Pepe G, Roos-Hesselink J, Szabolcs Z, Teixidó-Tura G, Timmermans J, Van de Laar I, van Kimmenade R, Verstraeten A, Von Kodolitsch Y, De Backer J, Jondeau G. Caruana M, et al. Eur J Med Genet. 2023 Jan;66(1):104673. doi: 10.1016/j.ejmg.2022.104673. Epub 2022 Nov 29. Eur J Med Genet. 2023. PMID: 36460281 Free article.
This document is an expert opinion reflecting strategies put forward by medical experts and patient representatives involved in the HTAD Rare Disease Working Group of VASCERN. It aims to provide a patient pathway that improves patient care by diminishing time to diagnosis, …
This document is an expert opinion reflecting strategies put forward by medical experts and patient representatives involved in the HTAD Rar …
Differential Diagnosis between Marfan Syndrome and Loeys-Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2.
Nistri S, De Cario R, Sticchi E, Spaziani G, Della Monica M, Giglio S, Favilli S, Giusti B, Stefano P, Pepe G. Nistri S, et al. Genes (Basel). 2021 Sep 22;12(10):1462. doi: 10.3390/genes12101462. Genes (Basel). 2021. PMID: 34680857 Free PMC article.
Marfan syndrome (MFS) and Loeys-Dietz syndrome type 4 (LDS4) are two hereditary connective tissue disorders. MFS displays ectopia lentis as a distinguishing, characterising feature, and thoracic aortic ectasia, aneurysm, dissection, and systemic features as manifest …
Marfan syndrome (MFS) and Loeys-Dietz syndrome type 4 (LDS4) are two hereditary connective tissue disorders. MFS displays ectopia …
42 results