Skip to main page content
U.S. flag

An official website of the United States government

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

1962
2025

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1962 1
1964 1
1965 1
1982 1
1987 1
1993 3
1994 3
1995 5
1996 2
1997 1
1999 2
2000 2
2001 2
2002 1
2004 1
2005 3
2006 1
2007 2
2009 5
2010 2
2011 1
2012 2
2013 4
2014 4
2015 4
2016 4
2017 1
2018 2
2019 3
2020 6
2021 2
2022 5
2023 1
2024 3
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Search Results

74 results

Results by year

Filters applied: . Clear all
Page 1
22q11.2 deletion syndrome and congenital heart disease.
Goldmuntz E. Goldmuntz E. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):64-72. doi: 10.1002/ajmg.c.31774. Epub 2020 Feb 12. Am J Med Genet C Semin Med Genet. 2020. PMID: 32049433 Review.
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.
FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection. More than one thousand individual mutations in FBN1 are ass …
FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and …
The fibrillins.
Ramirez F, Pereira L. Ramirez F, et al. Int J Biochem Cell Biol. 1999 Feb;31(2):255-9. doi: 10.1016/s1357-2725(98)00109-5. Int J Biochem Cell Biol. 1999. PMID: 10216958 Review.
Fibrillin-1 mutations result in the pleiotropic manifestations of Marfan syndrome, and fibrillin-2 alterations cause the overlapping phenotype of congenital contractural arachnodactyly. It is hypothesized that fibrillin-2 guides elastogenesis, whereas fibrillin-1 provides …
Fibrillin-1 mutations result in the pleiotropic manifestations of Marfan syndrome, and fibrillin-2 alterations cause the overlapping phenoty …
Beals-Hecht syndrome.
Jones JL, Lane JE, Logan JJ, Vanegas ME. Jones JL, et al. South Med J. 2002 Jul;95(7):753-5. South Med J. 2002. PMID: 12144083 Review.
Beals-Hecht syndrome, also known as congenital contractural arachnodactyly, is caused by a defect in fibrillin as in Marfan syndrome. This syndrome is characterized by a multitude of clinical findings including arachnodactyly, narrow body habitus, scoliosis, congeni …
Beals-Hecht syndrome, also known as congenital contractural arachnodactyly, is caused by a defect in fibrillin as in Marfan syndrome. …
Genetic models of fibrillinopathies.
Summers KM. Summers KM. Genetics. 2024 Jan 3;226(1):iyad189. doi: 10.1093/genetics/iyad189. Genetics. 2024. PMID: 37972149 Free PMC article. Review.
Variants in FBN2 encoding fibrillin-2 cause congenital contractural arachnodactyly and mouse models for this condition have also been produced. In most animals, including birds, reptiles, and amphibians, there is a third fibrillin, fibrillin-3 (FBN3 gene) for which the cre …
Variants in FBN2 encoding fibrillin-2 cause congenital contractural arachnodactyly and mouse models for this condition have also been …
Generalized skeletal abnormalities.
Watt AJ, Chung KC. Watt AJ, et al. Hand Clin. 2009 May;25(2):265-76. doi: 10.1016/j.hcl.2008.12.008. Hand Clin. 2009. PMID: 19380065 Review.
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.
Peeters S, De Kinderen P, Meester JAN, Verstraeten A, Loeys BL. Peeters S, et al. Hum Mutat. 2022 Jul;43(7):815-831. doi: 10.1002/humu.24383. Epub 2022 Apr 28. Hum Mutat. 2022. PMID: 35419902 Free PMC article. Review.
Whereas the musculoskeletal features of Marfan syndrome involve tall stature, arachnodactyly, joint hypermobility, and muscle hypoplasia, acromelic dysplasia patients present with short stature, brachydactyly, stiff joints, and hypermuscularity. Similarly, pathogenic varia …
Whereas the musculoskeletal features of Marfan syndrome involve tall stature, arachnodactyly, joint hypermobility, and muscle hypopla …
Fibrillin microfibrils in bone physiology.
Smaldone S, Ramirez F. Smaldone S, et al. Matrix Biol. 2016 May-Jul;52-54:191-197. doi: 10.1016/j.matbio.2015.09.004. Epub 2015 Sep 25. Matrix Biol. 2016. PMID: 26408953 Free PMC article. Review.
The severe skeletal abnormalities associated with Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCA) underscore the notion that fibrillin assemblies (microfibrils and elastic fibers) play a critical role in bone formation and function in spite of repres …
The severe skeletal abnormalities associated with Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCA) underscore t …
74 results