PubMed (OMIM) for id: 1289

Year	Number of Results
1961	2
1962	2
1964	1
1965	2
1966	2
1967	3
1968	1
1969	6
1970	2
1973	1
1979	1
1982	1
1984	3
1991	2
1992	3
1993	1
1994	2
1995	4
1996	3
1997	1
1998	2
2000	5
2001	1
2002	2
2004	1
2005	1
2009	1
2010	2
2012	1
2017	1
2018	1
2020	1
2024	0

1

A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.

Richer J, Hill HL, Wang Y, Yang ML, Hunker KL, Lane J, Blackburn S, Coleman DM, Eliason J, Sillon G, D'Agostino MD, Jetty P, Mongeon FP, Laberge AM, Ryan SE, Fendrikova-Mahlay N, Coutinho T, Mathis MR, Zawistowski M, Hazen SL, Katz AE, Gornik HL, Brummett CM, Abecasis G, Bergin IL, Stanley JC, Li JZ, Ganesh SK. Richer J, et al. Arterioscler Thromb Vasc Biol. 2020 Nov;40(11):2686-2699. doi: 10.1161/ATVBAHA.119.313885. Epub 2020 Sep 17. Arterioscler Thromb Vasc Biol. 2020. PMID: 32938213 Free PMC article.

2

Reciprocal signalling by Notch-Collagen V-CALCR retains muscle stem cells in their niche.

Baghdadi MB, Castel D, Machado L, Fukada SI, Birk DE, Relaix F, Tajbakhsh S, Mourikis P. Baghdadi MB, et al. Nature. 2018 May;557(7707):714-718. doi: 10.1038/s41586-018-0144-9. Epub 2018 May 23. Nature. 2018. PMID: 29795344 Free PMC article.

3

The 2017 international classification of the Ehlers-Danlos syndromes.

Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. Malfait F, et al. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306229

4

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.

Symoens S, Syx D, Malfait F, Callewaert B, De Backer J, Vanakker O, Coucke P, De Paepe A. Symoens S, et al. Hum Mutat. 2012 Oct;33(10):1485-93. doi: 10.1002/humu.22137. Epub 2012 Jul 5. Hum Mutat. 2012. PMID: 22696272

5

Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.

Borck G, Beighton P, Wilhelm C, Kohlhase J, Kubisch C. Borck G, et al. Am J Med Genet A. 2010 Aug;152A(8):2090-3. doi: 10.1002/ajmg.a.33541. Am J Med Genet A. 2010. PMID: 20635400

6

Quality of life in the classic and hypermobility types of Ehlers-Danlos syndrome [corrected].

Castori M, Camerota F, Celletti C, Grammatico P, Padua L. Castori M, et al. Ann Neurol. 2010 Jan;67(1):145-6; author reply 146-7. doi: 10.1002/ana.21934. Ann Neurol. 2010. PMID: 20186845 No abstract available.

7

Neuromuscular involvement in various types of Ehlers-Danlos syndrome.

Voermans NC, van Alfen N, Pillen S, Lammens M, Schalkwijk J, Zwarts MJ, van Rooij IA, Hamel BC, van Engelen BG. Voermans NC, et al. Ann Neurol. 2009 Jun;65(6):687-97. doi: 10.1002/ana.21643. Ann Neurol. 2009. PMID: 19557868

8

The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.

Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A. Malfait F, et al. Hum Mutat. 2005 Jan;25(1):28-37. doi: 10.1002/humu.20107. Hum Mutat. 2005. PMID: 15580559

9

Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome.

Pallotta R, Ehresmann T, Fusilli P, De Paepe A, Nuytinck L. Pallotta R, et al. Am J Med Genet A. 2004 Aug 1;128A(4):436-8. doi: 10.1002/ajmg.a.20576. Am J Med Genet A. 2004. PMID: 15264295 No abstract available.

10

EHLERS-DANLOS SYNDROME. PATHOLOGIC, HISTOCHEMICAL AND ELECTRON MICROSCOPIC OBSERVATIONS.

WECHSLER HL, FISHER ER. WECHSLER HL, et al. Arch Pathol. 1964 Jun;77:613-9. Arch Pathol. 1964. PMID: 14130047 No abstract available.

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