PubMed (OMIM) for id: 1281

Year	Number of Results
1957	1
1959	1
1972	2
1973	1
1977	1
1979	1
1980	1
1981	1
1983	2
1984	2
1985	5
1986	2
1987	1
1988	7
1989	9
1990	8
1991	5
1992	8
1993	5
1994	1
1995	5
1996	2
1997	6
1998	3
1999	1
2000	3
2001	1
2003	2
2004	2
2008	1
2009	2
2010	1
2011	1
2012	1
2013	1
2014	3
2015	1
2017	2
2024	0

1

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

Horn D, Siebert E, Seidel U, Rost I, Mayer K, Abou Jamra R, Mitter D, Kornak U. Horn D, et al. Am J Med Genet A. 2017 Sep;173(9):2534-2538. doi: 10.1002/ajmg.a.38345. Epub 2017 Jul 25. Am J Med Genet A. 2017. PMID: 28742248

2

Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.

Vandervore L, Stouffs K, Tanyalçin I, Vanderhasselt T, Roelens F, Holder-Espinasse M, Jørgensen A, Pepin MG, Petit F, Khau Van Kien P, Bahi-Buisson N, Lissens W, Gheldof A, Byers PH, Jansen AC. Vandervore L, et al. J Med Genet. 2017 Jun;54(6):432-440. doi: 10.1136/jmedgenet-2016-104421. Epub 2017 Mar 3. J Med Genet. 2017. PMID: 28258187

3

Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.

Jørgensen A, Fagerheim T, Rand-Hendriksen S, Lunde PI, Vorren TO, Pepin MG, Leistritz DF, Byers PH. Jørgensen A, et al. Eur J Hum Genet. 2015 Jun;23(6):796-802. doi: 10.1038/ejhg.2014.181. Epub 2014 Sep 10. Eur J Hum Genet. 2015. PMID: 25205403 Free PMC article.

4

Pregnancy-related deaths and complications in women with vascular Ehlers-Danlos syndrome.

Murray ML, Pepin M, Peterson S, Byers PH. Murray ML, et al. Genet Med. 2014 Dec;16(12):874-80. doi: 10.1038/gim.2014.53. Epub 2014 Jun 12. Genet Med. 2014. PMID: 24922461 Free article.

5

Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).

Pepin MG, Schwarze U, Rice KM, Liu M, Leistritz D, Byers PH. Pepin MG, et al. Genet Med. 2014 Dec;16(12):881-8. doi: 10.1038/gim.2014.72. Epub 2014 Jun 12. Genet Med. 2014. PMID: 24922459 Free article.

6

Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding.

Mizuno K, Boudko S, Engel J, Bächinger HP. Mizuno K, et al. J Biol Chem. 2013 Jun 28;288(26):19166-76. doi: 10.1074/jbc.M113.462002. Epub 2013 May 3. J Biol Chem. 2013. PMID: 23645670 Free PMC article.

7

Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.

Jeong SJ, Li S, Luo R, Strokes N, Piao X. Jeong SJ, et al. PLoS One. 2012;7(1):e29767. doi: 10.1371/journal.pone.0029767. Epub 2012 Jan 3. PLoS One. 2012. PMID: 22235340 Free PMC article.

8

COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy.

Leistritz DF, Pepin MG, Schwarze U, Byers PH. Leistritz DF, et al. Genet Med. 2011 Aug;13(8):717-22. doi: 10.1097/GIM.0b013e3182180c89. Genet Med. 2011. PMID: 21637106 Free article.

9

Myostatin depletion: a therapy for Ehlers-Danlos syndrome?

Prontera P, Belcastro V, Calabresi P, Donti E. Prontera P, et al. Ann Neurol. 2010 Jan;67(1):147-8. doi: 10.1002/ana.21828. Ann Neurol. 2010. PMID: 20186851 No abstract available.

10

Acrogeria.

Morris D. Morris D. Proc R Soc Med. 1957 May;50(5):330-1. Proc R Soc Med. 1957. PMID: 19993915 Free PMC article. No abstract available.

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