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Items: 1 to 20 of 110

1.

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.

D'hondt S, Van Damme T, Malfait F.

Genet Med. 2018 Jun;20(6):562-573. doi: 10.1038/gim.2017.138. Epub 2017 Oct 5. Review.

2.

Periodontal manifestations of Ehlers-Danlos syndromes: A systematic review.

Kapferer-Seebacher I, Lundberg P, Malfait F, Zschocke J.

J Clin Periodontol. 2017 Nov;44(11):1088-1100. doi: 10.1111/jcpe.12807. Epub 2017 Sep 25. Review.

PMID:
28836281
3.

The Ehlers-Danlos syndromes, rare types.

Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F.

Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. doi: 10.1002/ajmg.c.31550. Review.

PMID:
28306225
4.

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

Janecke AR, Li B, Boehm M, Krabichler B, Rohrbach M, Müller T, Fuchs I, Golas G, Katagiri Y, Ziegler SG, Gahl WA, Wilnai Y, Zoppi N, Geller HM, Giunta C, Slavotinek A, Steinmann B.

Am J Med Genet A. 2016 Jan;170A(1):103-15. doi: 10.1002/ajmg.a.37383. Epub 2015 Sep 16.

5.

Vascular type of Ehlers-Danlos syndrome.

Watanabe A, Shimada T.

J Nippon Med Sch. 2008 Oct;75(5):254-61. Review.

6.

Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical spectrum.

Hamel BC, Pals G, Engels CH, van den Akker E, Boers GH, van Dongen PW, Steijlen PM.

Clin Genet. 1998 Jun;53(6):440-6.

PMID:
9712532
7.

[Ehlers-Danlos syndromes: we are all concerned].

de Wazières B, Plauchu H, Boucand MH.

Presse Med. 1998 Oct 17;27(31):1582-4. French.

PMID:
9819593
8.

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.

Van Damme T, Colige A, Syx D, Giunta C, Lindert U, Rohrbach M, Aryani O, Alanay Y, Simsek-Kiper PÖ, Kroes HY, Devriendt K, Thiry M, Symoens S, De Paepe A, Malfait F.

Genet Med. 2016 Sep;18(9):882-91. doi: 10.1038/gim.2015.188. Epub 2016 Jan 14.

PMID:
26765342
9.

Ehlers-Danlos syndromes and epilepsy: An updated review.

Cortini F, Villa C.

Seizure. 2018 Apr;57:1-4. doi: 10.1016/j.seizure.2018.02.013. Epub 2018 Mar 2. Review.

10.

Vascular aspects of the Ehlers-Danlos Syndromes.

Malfait F.

Matrix Biol. 2018 Oct;71-72:380-395. doi: 10.1016/j.matbio.2018.04.013. Epub 2018 Apr 27. Review.

PMID:
29709596
11.

Arterial complications of vascular Ehlers-Danlos syndrome.

Eagleton MJ.

J Vasc Surg. 2016 Dec;64(6):1869-1880. doi: 10.1016/j.jvs.2016.06.120. Epub 2016 Sep 26. Review.

12.

Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome.

Smith LB, Hadoke PW, Dyer E, Denvir MA, Brownstein D, Miller E, Nelson N, Wells S, Cheeseman M, Greenfield A.

Cardiovasc Res. 2011 Apr 1;90(1):182-90. doi: 10.1093/cvr/cvq356. Epub 2010 Nov 10.

13.

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

Borck G, Beighton P, Wilhelm C, Kohlhase J, Kubisch C.

Am J Med Genet A. 2010 Aug;152A(8):2090-3. doi: 10.1002/ajmg.a.33541.

PMID:
20635400
14.

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.

Rohrbach M, Vandersteen A, Yiş U, Serdaroglu G, Ataman E, Chopra M, Garcia S, Jones K, Kariminejad A, Kraenzlin M, Marcelis C, Baumgartner M, Giunta C.

Orphanet J Rare Dis. 2011 Jun 23;6:46. doi: 10.1186/1750-1172-6-46.

15.

Anesthetic management of a parturient with hypermobility phenotype but possible vascular genotype Ehlers-Danlos syndrome.

Fedoruk K, Chong K, Sermer M, Carvalho JC.

Can J Anaesth. 2015 Dec;62(12):1308-12. doi: 10.1007/s12630-015-0482-0. Epub 2015 Sep 14.

PMID:
26370260
16.

[Vascular Ehlers-Danlos syndrome].

Perdu J, Boutouyrie P, Lahlou-Laforêt K, Khau Van Kien P, Denarié N, Mousseaux E, Sapoval M, Julia P, Zinzindohoué F, Touraine P, Dumez Y, Trystram D, Vignal-Clermont C, Gimenez-Roqueplo AP, Jeunemaitre X, Fiessinger JN.

Presse Med. 2006 Dec;35(12 Pt 2):1864-75. Review. French.

PMID:
17159712
17.

A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation.

Tosun A, Kurtgoz S, Dursun S, Bozkurt G.

Pediatr Neurol. 2014 Oct;51(4):566-9. doi: 10.1016/j.pediatrneurol.2014.06.020. Epub 2014 Jul 10.

PMID:
25266621
18.

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
19.

Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Castori M, Morlino S, Pascolini G, Blundo C, Grammatico P.

Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):54-75. doi: 10.1002/ajmg.c.31431. Review.

PMID:
25821092
20.

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M, Byers PH.

Am J Hum Genet. 2001 Nov;69(5):989-1001. Epub 2001 Sep 27.

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