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Items: 1 to 20 of 107

1.

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta.

Nampoothiri S, Guillemyn B, Elcioglu N, Jagadeesh S, Yesodharan D, Suresh B, Turan S, Symoens S, Malfait F.

Am J Med Genet A. 2019 Mar 21. doi: 10.1002/ajmg.a.61119. [Epub ahead of print]

PMID:
30896082
2.

Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.

Syx D, De Wandele I, Symoens S, De Rycke R, Hougrand O, Voermans N, De Paepe A, Malfait F.

Hum Mol Genet. 2019 Jan 22. doi: 10.1093/hmg/ddz024. [Epub ahead of print]

PMID:
30668708
3.

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.

Guillemyn B, Kayserili H, Demuynck L, Sips P, De Paepe A, Syx D, Coucke PJ, Malfait F, Symoens S.

Hum Mol Genet. 2019 Jan 16. doi: 10.1093/hmg/ddz017. [Epub ahead of print]

PMID:
30657919
4.

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.

Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Pajouhanfar S, Baghdadi T, Shadmehri AA, Giunta C, Kraenzlin M, Syx D, Malfait F, Has C, Lwin SM, Karamzadeh R, Liu L, Guy A, Hamid M, Kariminejad A, Zeinali S, McGrath JA, Uitto J.

Matrix Biol. 2018 Nov 18. pii: S0945-053X(18)30345-7. doi: 10.1016/j.matbio.2018.11.006. [Epub ahead of print]

PMID:
30463024
5.

Ehlers-Danlos syndromes: state of the art on clinical practice guidelines.

Sulli A, Talarico R, Scirè CA, Avcin T, Castori M, Ferraris A, Frank C, Grunert J, Paolino S, Bombardieri S, Schneider M, Smith V, Cutolo M, Mosca M, Malfait F.

RMD Open. 2018 Oct 18;4(Suppl 1):e000790. doi: 10.1136/rmdopen-2018-000790. eCollection 2018.

6.

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies.

Gistelinck C, Kwon RY, Malfait F, Symoens S, Harris MP, Henke K, Hawkins MB, Fisher S, Sips P, Guillemyn B, Bek JW, Vermassen P, De Saffel H, Witten PE, Weis M, De Paepe A, Eyre DR, Willaert A, Coucke PJ.

Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8037-E8046. doi: 10.1073/pnas.1722200115. Epub 2018 Aug 6.

7.

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].

8.

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.

Van Damme T, Pang X, Guillemyn B, Gulberti S, Syx D, De Rycke R, Kaye O, de Die-Smulders CEM, Pfundt R, Kariminejad A, Nampoothiri S, Pierquin G, Bulk S, Larson AA, Chatfield KC, Simon M, Legrand A, Gerard M, Symoens S, Fournel-Gigleux S, Malfait F.

Hum Mol Genet. 2018 Oct 15;27(20):3475-3487. doi: 10.1093/hmg/ddy234.

PMID:
29931299
9.

CDISC SHARE, a Global, Cloud-based Resource of Machine-Readable CDISC Standards for Clinical and Translational Research.

Hume S, Chow A, Evans J, Malfait F, Chason J, Wold JD, Kubick W, Becnel LB.

AMIA Jt Summits Transl Sci Proc. 2018 May 18;2017:94-103. eCollection 2018.

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.

Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model.

D'hondt S, Guillemyn B, Syx D, Symoens S, De Rycke R, Vanhoutte L, Toussaint W, Lambrecht BN, De Paepe A, Keene DR, Ishikawa Y, Bächinger HP, Janssens S, Bertrand MJM, Malfait F.

Matrix Biol. 2018 Sep;70:72-83. doi: 10.1016/j.matbio.2018.03.008. Epub 2018 Mar 15.

PMID:
29551664
12.

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

Essawi O, Symoens S, Fannana M, Darwish M, Farraj M, Willaert A, Essawi T, Callewaert B, De Paepe A, Malfait F, Coucke PJ.

Mol Genet Genomic Med. 2018 Jan;6(1):15-26. doi: 10.1002/mgg3.331. Epub 2017 Nov 18.

13.

Updating the Evidence on Functional Capacity Evaluation Methods: A Systematic Review.

De Baets S, Calders P, Schalley N, Vermeulen K, Vertriest S, Van Peteghem L, Coussens M, Malfait F, Vanderstraeten G, Van Hove G, Van de Velde D.

J Occup Rehabil. 2018 Sep;28(3):418-428. doi: 10.1007/s10926-017-9734-x. Review.

PMID:
28988355
14.

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.

15.

Hypermobility, the Ehlers-Danlos syndromes and chronic pain.

Syx D, De Wandele I, Rombaut L, Malfait F.

Clin Exp Rheumatol. 2017 Sep-Oct;35 Suppl 107(5):116-122. Epub 2017 Sep 28. Review.

16.

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
17.

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.

Zou Y, Donkervoort S, Salo AM, Foley AR, Barnes AM, Hu Y, Makareeva E, Leach ME, Mohassel P, Dastgir J, Deardorff MA, Cohn RD, DiNonno WO, Malfait F, Lek M, Leikin S, Marini JC, Myllyharju J, Bönnemann CG.

Hum Mol Genet. 2017 Jun 15;26(12):2207-2217. doi: 10.1093/hmg/ddx110.

18.

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.

Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552.

PMID:
28306229
19.

The international consortium on the Ehlers-Danlos syndromes.

Bloom L, Byers P, Francomano C, Tinkle B, Malfait F; Steering Committee of The International Consortium on the Ehlers-Danlos Syndromes.

Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):5-7. doi: 10.1002/ajmg.c.31547.

PMID:
28306227
20.

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

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