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
1948 1
1950 2
1951 1
1957 1
1960 1
1961 1
1963 1
1964 1
1965 1
1966 3
1967 2
1970 1
1971 4
1972 1
1973 1
1974 2
1975 4
1976 1
1977 3
1979 2
1980 1
1981 2
1982 2
1983 1
1984 2
1986 1
1987 1
1989 2
1990 1
1991 2
1992 2
1993 3
1994 1
1995 4
1996 3
1997 3
1998 3
1999 4
2000 1
2001 6
2002 3
2003 3
2004 1
2005 3
2006 6
2007 2
2008 5
2009 3
2010 4
2011 6
2012 9
2013 8
2014 6
2015 2
2016 6
2017 10
2018 6
2019 10
2020 6
2021 2
2022 5
2023 5
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

178 results

Results by year

Filters applied: . Clear all
Page 1
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J, Van Vliet PP, Pucéat M, Andelfinger G. Piché J, et al. Cell Cycle. 2019 Nov;18(21):2828-2848. doi: 10.1080/15384101.2019.1658476. Epub 2019 Sep 13. Cell Cycle. 2019. PMID: 31516082 Free PMC article. Review.
We suggest that the human phenotypes observed in CdLS, CAID syndrome and other cohesinopathies can inform future studies into the less well-known non-cohesion-related functions of cohesin complex genes. Abbreviations: AD: Alzheimer Disease; AFF4: AF4/FMR2 Family Member 4; …
We suggest that the human phenotypes observed in CdLS, CAID syndrome and other cohesinopathies can inform future studies into the les …
Marfan syndrome: improved clinical history results in expanded natural history.
Pyeritz RE. Pyeritz RE. Genet Med. 2019 Aug;21(8):1683-1690. doi: 10.1038/s41436-018-0399-4. Epub 2018 Dec 21. Genet Med. 2019. PMID: 30573797 Free article. Review.
Life expectancy for a person with Marfan syndrome has essentially doubled over the past four decades. ...As a result, each person with Marfan syndrome will need to be evaluated and followed by more specialists than previously. ...
Life expectancy for a person with Marfan syndrome has essentially doubled over the past four decades. ...As a result, each per …
[Ocular manifestations of Marfan syndrome].
Chizhonkova EA, Avetisov KS, Avetisov SE, Kharlap SI. Chizhonkova EA, et al. Vestn Oftalmol. 2022;138(4):94-100. doi: 10.17116/oftalma202213804194. Vestn Oftalmol. 2022. PMID: 36004597 Review. Russian.
Marfan syndrome is an orphan disease that is caused by a mutation in the FBN1 gene located on chromosome 15 (15q21.1) and is usually inherited in an autosomal dominant manner. The article reviews the results of studies concerning the potential ocular manifestations …
Marfan syndrome is an orphan disease that is caused by a mutation in the FBN1 gene located on chromosome 15 (15q21.1) and is u …
Pseudoacromegaly.
Marques P, Korbonits M. Marques P, et al. Front Neuroendocrinol. 2019 Jan;52:113-143. doi: 10.1016/j.yfrne.2018.11.001. Epub 2018 Nov 15. Front Neuroendocrinol. 2019. PMID: 30448536 Review.
However, some patients with physical features resembling acromegaly - usually affecting the face and extremities -, or gigantism - accelerated growth/tall stature - will have no abnormalities in the GH axis. ...
However, some patients with physical features resembling acromegaly - usually affecting the face and extremities -, or gigantism - ac …
Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation.
Li J, Zhu T, Yang S, Yang F, Wu J, Xiong F. Li J, et al. Braz J Cardiovasc Surg. 2021 Oct 17;36(5):700-702. doi: 10.21470/1678-9741-2020-0592. Braz J Cardiovasc Surg. 2021. PMID: 34236823 Free PMC article.
A 32-month-old girl with patent ductus arteriosus, false tendon of left ventricle, mild pulmonary hypertension, and chronic cardiac insufficiency (cardiac function level I-II) was misdiagnosed with Marfan Syndrome and there was no improvement in her physical growth …
A 32-month-old girl with patent ductus arteriosus, false tendon of left ventricle, mild pulmonary hypertension, and chronic cardiac insuffic …
Features of Marfan syndrome not listed in the Ghent nosology - the dark side of the disease.
von Kodolitsch Y, Demolder A, Girdauskas E, Kaemmerer H, Kornhuber K, Muino Mosquera L, Morris S, Neptune E, Pyeritz R, Rand-Hendriksen S, Rahman A, Riise N, Robert L, Staufenbiel I, Szöcs K, Vanem TT, Linke SJ, Vogler M, Yetman A, De Backer J. von Kodolitsch Y, et al. Expert Rev Cardiovasc Ther. 2019 Dec;17(12):883-915. doi: 10.1080/14779072.2019.1704625. Expert Rev Cardiovasc Ther. 2019. PMID: 31829751 Review.
Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features.Areas covered: The German Marfan Organization listed unusual sy …
Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar f …
Craniofacial characterization of Marfan Syndrome.
Johnson CM, Spruiell B, Wiesen C, Pimenta LA, Vann W, Frazier-Bowers SA. Johnson CM, et al. Orthod Craniofac Res. 2019 May;22 Suppl 1:56-61. doi: 10.1111/ocr.12295. Orthod Craniofac Res. 2019. PMID: 31074139
OBJECTIVE: The morbidity and mortality associated with the Marfan Syndrome (MFS) warrant timely diagnosis and intervention that can improve long-term prognosis. ...Specifically, the majority of participants resided in the supernormal category for biocular width and …
OBJECTIVE: The morbidity and mortality associated with the Marfan Syndrome (MFS) warrant timely diagnosis and intervention tha …
Marfan Syndrome Incorrectly Diagnosed as Autism.
Mares Beltran CF, Nesheiwat N. Mares Beltran CF, et al. Pediatrics. 2023 May 1;151(5):e2022059083. doi: 10.1542/peds.2022-059083. Pediatrics. 2023. PMID: 37082918
Marfan syndrome is a pleiotropic genetic connective tissue disorder most commonly involving the cardiovascular, skeletal, and ocular systems, which have abundant connective tissue. ...These findings prompted further evaluation that subsequently led to a clinical and …
Marfan syndrome is a pleiotropic genetic connective tissue disorder most commonly involving the cardiovascular, skeletal, and …
MED12 related disorders.
Graham JM Jr, Schwartz CE. Graham JM Jr, et al. Am J Med Genet A. 2013 Nov;161A(11):2734-40. doi: 10.1002/ajmg.a.36183. Epub 2013 Oct 10. Am J Med Genet A. 2013. PMID: 24123922 Free PMC article. Review.
This review will compare and contrast four different clinical conditions that have been associated with different mutations in MED12, which is located at Xq13. To date, these conditions include Opitz-Kaveggia (FG) syndrome, Lujan syndrome, Ohdo syndrome (Maat …
This review will compare and contrast four different clinical conditions that have been associated with different mutations in MED12, which …
Marfan syndrome-an orthodontic perspective.
Utreja A, Evans CA. Utreja A, et al. Angle Orthod. 2009 Mar;79(2):394-400. doi: 10.2319/112707-558.1. Angle Orthod. 2009. PMID: 19216608 Free article.
Marfan syndrome is a heritable disorder of connective tissue that can affect the heart, blood vessels, lungs, eyes, bones, and ligaments. ...In this report, the authors present the records of three patients with Marfan syndrome who were treated at a de …
Marfan syndrome is a heritable disorder of connective tissue that can affect the heart, blood vessels, lungs, eyes, bones, and …
178 results