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Items: 1 to 20 of 33

1.

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.

Hum Genet. 2015 Aug;134(8):881-93. doi: 10.1007/s00439-015-1567-0. Epub 2015 May 28.

2.

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.

Eur J Hum Genet. 2015 Dec;23(12):1657-64. doi: 10.1038/ejhg.2015.32. Epub 2015 Mar 11.

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.

Eur J Hum Genet. 2015 Jun;23(6):796-802. doi: 10.1038/ejhg.2014.181. Epub 2014 Sep 10.

4.

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

Murray ML, Pepin M, Peterson S, Byers PH.

Genet Med. 2014 Dec;16(12):874-80. doi: 10.1038/gim.2014.53. Epub 2014 Jun 12.

PMID:
24922461
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.

Genet Med. 2014 Dec;16(12):881-8. doi: 10.1038/gim.2014.72. Epub 2014 Jun 12.

PMID:
24922459
6.

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.

Ann Thorac Surg. 2014 May;97(5):1804-6. doi: 10.1016/j.athoracsur.2013.07.132.

PMID:
24792277
7.

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.

AJR Am J Roentgenol. 2014 May;202(5):1120-9. doi: 10.2214/AJR.13.11485. Review.

PMID:
24758669
8.

In vitro maturation and surrogacy in patients with vascular-type Ehlers-Danlos syndrome--a safe assisted reproductive technology approach.

Bergeron ME, Child T, Fatum M.

Hum Fertil (Camb). 2014 Jun;17(2):141-4. doi: 10.3109/14647273.2014.903002. Epub 2014 Apr 24.

PMID:
24758138
9.

Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes.

Shalhub S, Black JH 3rd, Cecchi AC, Xu Z, Griswold BF, Safi HJ, Milewicz DM, McDonnell NB.

J Vasc Surg. 2014 Jul;60(1):160-9. doi: 10.1016/j.jvs.2014.01.070. Epub 2014 Mar 18.

10.

Ethical and policy issues in genetic testing and screening of children.

COMMITTEE ON BIOETHICS; COMMITTEE ON GENETICS, AND; AMERICAN COLLEGE OF MEDICAL GENETICS AND; GENOMICS SOCIAL; ETHICAL; LEGAL ISSUES COMMITTEE.

Pediatrics. 2013 Mar;131(3):620-2. doi: 10.1542/peds.2012-3680. Epub 2013 Feb 21.

11.

Respiratory complications of Ehlers-Danlos syndrome type IV.

Hatake K, Morimura Y, Kudo R, Kawashima W, Kasuda S, Kuniyasu H.

Leg Med (Tokyo). 2013 Jan;15(1):23-7. doi: 10.1016/j.legalmed.2012.07.005. Epub 2012 Aug 30.

PMID:
22940417
12.

Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012.

Mayer K, Kennerknecht I, Steinmann B.

Eur J Hum Genet. 2013 Jan;21(1). doi: 10.1038/ejhg.2012.162. Epub 2012 Aug 15. No abstract available.

13.

Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study.

Ferré FC, Frank M, Gogly B, Golmard L, Naveau A, Chérifi H, Emmerich J, Gaultier F, Berdal A, Jeunemaitre X, Fournier BP.

BMJ Open. 2012 Apr 5;2(2):e000705. doi: 10.1136/bmjopen-2011-000705. Print 2012.

14.

Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature.

Rana M, Aziz O, Purkayastha S, Lloyd J, Wolfe J, Ziprin P.

J Med Case Rep. 2011 Jun 23;5:229. doi: 10.1186/1752-1947-5-229.

15.

Newly diagnosed Ehlers-Danlos syndrome in an adult with elastosis perforans serpiginosa.

Ahmadi J, Choi JN.

J Am Acad Dermatol. 2011 Jul;65(1):226-7. doi: 10.1016/j.jaad.2009.10.050. No abstract available.

PMID:
21679829
16.

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.

Genet Med. 2011 Aug;13(8):717-22. doi: 10.1097/GIM.0b013e3182180c89.

PMID:
21637106
17.

Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.

Ong KT, Perdu J, De Backer J, Bozec E, Collignon P, Emmerich J, Fauret AL, Fiessinger JN, Germain DP, Georgesco G, Hulot JS, De Paepe A, Plauchu H, Jeunemaitre X, Laurent S, Boutouyrie P.

Lancet. 2010 Oct 30;376(9751):1476-84. doi: 10.1016/S0140-6736(10)60960-9. Epub 2010 Sep 7. Erratum in: Lancet. 2016 Aug 6;388(10044):564. Dosage error in published abstract; MEDLINE/PubMed abstract corrected; Dosage error in article text.

PMID:
20825986
18.

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.

Meienberg J, Rohrbach M, Neuenschwander S, Spanaus K, Giunta C, Alonso S, Arnold E, Henggeler C, Regenass S, Patrignani A, Azzarello-Burri S, Steiner B, Nygren AO, Carrel T, Steinmann B, Mátyás G.

Eur J Hum Genet. 2010 Dec;18(12):1315-21. doi: 10.1038/ejhg.2010.105. Epub 2010 Jul 21.

19.

Pleuropulmonary pathology of vascular Ehlers-Danlos syndrome: spontaneous laceration, haematoma and fibrous nodules.

Kawabata Y, Watanabe A, Yamaguchi S, Aoshima M, Shiraki A, Hatamochi A, Kawamura T, Uchiyama T, Watanabe A, Fukuda Y.

Histopathology. 2010 Jun;56(7):944-50. doi: 10.1111/j.1365-2559.2010.03574.x. Epub 2010 May 24.

PMID:
20500229
20.

Vascular Ehlers-Danlos syndrome: imaging findings.

Zilocchi M, Macedo TA, Oderich GS, Vrtiska TJ, Biondetti PR, Stanson AW.

AJR Am J Roentgenol. 2007 Sep;189(3):712-9.

PMID:
17715121

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