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Items: 1 to 20 of 142

1.

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.

Colombi M, Dordoni C, Venturini M, Ciaccio C, Morlino S, Chiarelli N, Zanca A, Calzavara-Pinton P, Zoppi N, Castori M, Ritelli M.

Clin Genet. 2017 Dec;92(6):624-631. doi: 10.1111/cge.13052. Epub 2017 Sep 4.

PMID:
28485813
2.

Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

Ritelli M, Dordoni C, Venturini M, Chiarelli N, Quinzani S, Traversa M, Zoppi N, Vascellaro A, Wischmeijer A, Manfredini E, Garavelli L, Calzavara-Pinton P, Colombi M.

Orphanet J Rare Dis. 2013 Apr 12;8:58. doi: 10.1186/1750-1172-8-58.

3.

Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Castori M, Dordoni C, Morlino S, Sperduti I, Ritelli M, Valiante M, Chiarelli N, Zanca A, Celletti C, Venturini M, Camerota F, Calzavara-Pinton P, Grammatico P, Colombi M.

Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):43-53. doi: 10.1002/ajmg.c.31425. Epub 2015 Feb 5.

PMID:
25655071
4.

Classic Ehlers-Danlos Syndrome.

Malfait F, Wenstrup R, De Paepe A.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 May 29 [updated 2018 Jul 26].

5.

A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.

Colombi M, Dordoni C, Cinquina V, Venturini M, Ritelli M.

Eur J Med Genet. 2018 Jan;61(1):17-20. doi: 10.1016/j.ejmg.2017.10.005. Epub 2017 Oct 9.

PMID:
29024828
6.

Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients.

Nielsen RH, Couppé C, Jensen JK, Olsen MR, Heinemeier KM, Malfait F, Symoens S, De Paepe A, Schjerling P, Magnusson SP, Remvig L, Kjaer M.

FASEB J. 2014 Nov;28(11):4668-76. doi: 10.1096/fj.14-249656. Epub 2014 Aug 13.

PMID:
25122555
7.

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.

Malfait F, Wenstrup RJ, De Paepe A.

Genet Med. 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. Review.

PMID:
20847697
8.

Ehlers-Danlos syndrome, classical type.

Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA.

Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):27-39. doi: 10.1002/ajmg.c.31548. Epub 2017 Feb 13. Review.

PMID:
28192633
9.

Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.

Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai JI, Kurosawa K.

Congenit Anom (Kyoto). 2018 Nov;58(6):191-193. doi: 10.1111/cga.12277. Epub 2018 Mar 25.

PMID:
29520887
10.

Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype.

Park AC, Phillips CL, Pfeiffer FM, Roenneburg DA, Kernien JF, Adams SM, Davidson JM, Birk DE, Greenspan DS.

Am J Pathol. 2015 Jul;185(7):2000-11. doi: 10.1016/j.ajpath.2015.03.022. Epub 2015 May 16.

11.

Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.

Morlino S, Dordoni C, Sperduti I, Venturini M, Celletti C, Camerota F, Colombi M, Castori M.

Am J Med Genet A. 2017 Apr;173(4):914-929. doi: 10.1002/ajmg.a.38106. Epub 2017 Mar 7.

PMID:
28266107
12.

Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.

Demirdas S, Dulfer E, Robert L, Kempers M, van Beek D, Micha D, van Engelen BG, Hamel B, Schalkwijk J, Loeys B, Maugeri A, Voermans NC.

Clin Genet. 2017 Mar;91(3):411-425. doi: 10.1111/cge.12853. Epub 2016 Nov 4.

PMID:
27582382
13.

Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.

Colombi M, Dordoni C, Venturini M, Zanca A, Calzavara-Pinton P, Ritelli M.

Am J Med Genet A. 2017 Feb;173(2):524-530. doi: 10.1002/ajmg.a.38035. Epub 2016 Nov 7. Review.

PMID:
28102596
14.

Deficits in Col5a2 Expression Result in Novel Skin and Adipose Abnormalities and Predisposition to Aortic Aneurysms and Dissections.

Park AC, Phan N, Massoudi D, Liu Z, Kernien JF, Adams SM, Davidson JM, Birk DE, Liu B, Greenspan DS.

Am J Pathol. 2017 Oct;187(10):2300-2311. doi: 10.1016/j.ajpath.2017.06.006. Epub 2017 Jul 19.

15.

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.

Hum Mutat. 2012 Oct;33(10):1485-93. doi: 10.1002/humu.22137. Epub 2012 Jul 5.

PMID:
22696272
16.

A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.

Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N.

Am J Med Genet A. 2010 Jun;152A(6):1333-46. doi: 10.1002/ajmg.a.33498.

PMID:
20503305
17.

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type.

Chiarelli N, Carini G, Zoppi N, Dordoni C, Ritelli M, Venturini M, Castori M, Colombi M.

PLoS One. 2016 Aug 12;11(8):e0161347. doi: 10.1371/journal.pone.0161347. eCollection 2016.

18.

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

Colombi M, Dordoni C, Chiarelli N, Ritelli M.

Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. Review.

PMID:
25821090
19.

Molecular genetics in classic Ehlers-Danlos syndrome.

Malfait F, De Paepe A.

Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):17-23. Review.

PMID:
16278879
20.

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.

Hum Mutat. 2005 Jan;25(1):28-37.

PMID:
15580559

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