PubMed (Bookshelf cited) for id: 82790

Year	Number of Results
1967	1
1977	1
1994	1
1996	1
2000	2
2001	1
2003	1
2004	1
2005	3
2007	2
2010	2
2011	3
2012	2
2013	1
2014	7
2015	3
2017	1
2018	2
2019	1
2024	0

1

Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.

Legrand A, Devriese M, Dupuis-Girod S, Simian C, Venisse A, Mazzella JM, Auribault K, Adham S, Frank M, Albuisson J, Jeunemaitre X. Legrand A, et al. Genet Med. 2019 Jul;21(7):1568-1575. doi: 10.1038/s41436-018-0356-2. Epub 2018 Nov 26. Genet Med. 2019. PMID: 30474650 Free article.

2

Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review.

Adham S, Trystram D, Albuisson J, Domigo V, Legrand A, Jeunemaitre X, Frank M. Adham S, et al. Orphanet J Rare Dis. 2018 Jun 25;13(1):100. doi: 10.1186/s13023-018-0842-2. Orphanet J Rare Dis. 2018. PMID: 29940997 Free PMC article. Review.

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

First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.

van de Luijtgaarden KM, Heijsman D, Maugeri A, Weiss MM, Verhagen HJ, IJpma A, Brüggenwirth HT, Majoor-Krakauer D. van de Luijtgaarden KM, et al. Hum Genet. 2015 Aug;134(8):881-93. doi: 10.1007/s00439-015-1567-0. Epub 2015 May 28. Hum Genet. 2015. PMID: 26017485 Free PMC article.

5

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.

Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarié N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X. Frank M, et al. Eur J Hum Genet. 2015 Dec;23(12):1657-64. doi: 10.1038/ejhg.2015.32. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758994 Free PMC article.

6

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.

7

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.

8

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.

9

Bilateral lung transplantation in a patient with Vascular Ehlers-Danlos syndrome.

García Sáez D, Mohite PN, Zych B, Sabashnikov A, Moza A, Carby M, Simon AR. García Sáez D, et al. Ann Thorac Surg. 2014 May;97(5):1804-6. doi: 10.1016/j.athoracsur.2013.07.132. Ann Thorac Surg. 2014. PMID: 24792277

10

CT angiographic evaluation of genetic vascular disease: role in detection, staging, and management of complex vascular pathologic conditions.

Chu LC, Johnson PT, Dietz HC, Fishman EK. Chu LC, et al. AJR Am J Roentgenol. 2014 May;202(5):1120-9. doi: 10.2214/AJR.13.11485. AJR Am J Roentgenol. 2014. PMID: 24758669 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

33 results

Results by year