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Items: 1 to 50 of 112

1.

COL1-related overlap disorder: a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.

Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, Mackay S, Agolini E, Cocciadiferro D, Sasaki E, Madeo A, Ferraris A, Reardon W, Di Rocco M, Novelli A, Grammatico P, Malfait F, Mazza T, Hakim A, Giunta C, Colombi M, Castori M.

Clin Genet. 2019 Dec 3. doi: 10.1111/cge.13683. [Epub ahead of print]

PMID:
31794058
2.

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.

Li J, Ritelli M, Ma CS, Rao G, Habib T, Corvilain E, Bougarn S, Cypowyj S, Grodecká L, Lévy R, Béziat V, Shang L, Payne K, Avery DT, Migaud M, Boucherit S, Boughorbel S, Guennoun A, Chrabieh M, Rapaport F, Bigio B, Itan Y, Boisson B, Cormier-Daire V, Syx D, Malfait F, Zoppi N, Abel L, Freiberger T, Dietz HC, Marr N, Tangye SG, Colombi M, Casanova JL, Puel A.

Sci Immunol. 2019 Nov 29;4(41). pii: eaax7965. doi: 10.1126/sciimmunol.aax7965.

PMID:
31784499
3.

Patient perspectives on employment participation in the "hypermobile Ehlers-Danlos syndrome".

De Baets S, Calders P, Verhoost L, Coussens M, Dewandele I, Malfait F, Vanderstraeten G, Van Hove G, Van de Velde D.

Disabil Rehabil. 2019 Jul 9:1-10. doi: 10.1080/09638288.2019.1636316. [Epub ahead of print]

PMID:
31287330
4.

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.

Delbaere S, Dhooge T, Syx D, Petit F, Goemans N, Destrée A, Vanakker O, De Rycke R, Symoens S, Malfait F.

Genet Med. 2019 Jul 5. doi: 10.1038/s41436-019-0599-6. [Epub ahead of print]

PMID:
31273343
5.

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.

Colman M, Van Damme T, Steichen-Gersdorf E, Laccone F, Nampoothiri S, Syx D, Guillemyn B, Symoens S, Malfait F.

Orphanet J Rare Dis. 2019 Jun 13;14(1):138. doi: 10.1186/s13023-019-1110-9.

6.

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 Jun;179(6):908-914. doi: 10.1002/ajmg.a.61119. Epub 2019 Mar 21.

PMID:
30896082
7.

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 Jun 1;28(11):1853-1864. doi: 10.1093/hmg/ddz024.

PMID:
30668708
8.

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 Jun 1;28(11):1801-1809. doi: 10.1093/hmg/ddz017.

PMID:
30657919
9.

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. 2019 Aug;81:91-106. doi: 10.1016/j.matbio.2018.11.006. Epub 2018 Nov 18.

PMID:
30463024
10.

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.

11.

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.

12.

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].

13.

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
14.

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.

15.

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
16.

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
17.

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.

18.

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.

PMID:
28988355
19.

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.

20.

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.

21.

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
22.

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.

23.

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
24.

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
25.

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
26.

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.

Kariminejad A, Afroozan F, Bozorgmehr B, Ghanadan A, Akbaroghli S, Khorram Khorshid HR, Mojahedi F, Setoodeh A, Loh A, Tan YX, Escande-Beillard N, Malfait F, Reversade B, Gardeitchik T, Morava E.

Int J Mol Sci. 2017 Mar 15;18(3). pii: E635. doi: 10.3390/ijms18030635. Review.

27.

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.

Symoens S, Steyaert W, Demuynck L, De Paepe A, Diderich KE, Malfait F, Coucke PJ.

Am J Med Genet A. 2017 Apr;173(4):1047-1050. doi: 10.1002/ajmg.a.38135. Epub 2017 Mar 6.

PMID:
28261977
28.

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
29.

Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay.

Baert A, Depuydt J, Van Maerken T, Poppe B, Malfait F, Van Damme T, De Nobele S, Perletti G, De Leeneer K, Claes KB, Vral A.

Oncol Rep. 2017 Mar;37(3):1379-1386. doi: 10.3892/or.2017.5407. Epub 2017 Jan 25.

30.

A framework for the classification of joint hypermobility and related conditions.

Castori M, Tinkle B, Levy H, Grahame R, Malfait F, Hakim A.

Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):148-157. doi: 10.1002/ajmg.c.31539. Epub 2017 Feb 1.

PMID:
28145606
31.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA.

Am J Hum Genet. 2017 Feb 2;100(2):216-227. doi: 10.1016/j.ajhg.2016.12.010. Epub 2017 Jan 5.

32.

The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood: A phenomenological, hermeneutical study.

De Baets S, Vanhalst M, Coussens M, Rombaut L, Malfait F, Van Hove G, Calders P, Vanderstraeten G, van de Velde D.

Res Dev Disabil. 2017 Jan;60:135-144. doi: 10.1016/j.ridd.2016.11.017. Epub 2016 Dec 5.

PMID:
27931013
33.

Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome.

Gistelinck C, Witten PE, Huysseune A, Symoens S, Malfait F, Larionova D, Simoens P, Dierick M, Van Hoorebeke L, De Paepe A, Kwon RY, Weis M, Eyre DR, Willaert A, Coucke PJ.

J Bone Miner Res. 2016 Nov;31(11):1930-1942. doi: 10.1002/jbmr.2977. Epub 2016 Oct 24.

34.

The association between muscle strength and activity limitations in patients with the hypermobility type of Ehlers-Danlos syndrome: the impact of proprioception.

Scheper M, Rombaut L, de Vries J, De Wandele I, van der Esch M, Visser B, Malfait F, Calders P, Engelbert R.

Disabil Rehabil. 2017 Jul;39(14):1391-1397. doi: 10.1080/09638288.2016.1196396. Epub 2016 Jun 24.

PMID:
27339264
35.

RIN2 syndrome: Expanding the clinical phenotype.

Rosato S, Syx D, Ivanovski I, Pollazzon M, Santodirocco D, De Marco L, Beltrami M, Callewaert B, Garavelli L, Malfait F.

Am J Med Genet A. 2016 Sep;170(9):2408-15. doi: 10.1002/ajmg.a.37789. Epub 2016 Jun 8. Review.

PMID:
27277385
36.

Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance.

Acke FR, Dhooge IJ, Malfait F, De Leenheer EM, De Pauw GA.

J Craniomaxillofac Surg. 2016 Jul;44(7):848-53. doi: 10.1016/j.jcms.2016.04.010. Epub 2016 Apr 15.

PMID:
27193475
37.

Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation.

Baert A, Depuydt J, Van Maerken T, Poppe B, Malfait F, Storm K, van den Ende J, Van Damme T, De Nobele S, Perletti G, De Leeneer K, Claes KB, Vral A.

Breast Cancer Res. 2016 May 17;18(1):52. doi: 10.1186/s13058-016-0709-1.

38.

Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome.

De Wandele I, Rombaut L, De Backer T, Peersman W, Da Silva H, De Mits S, De Paepe A, Calders P, Malfait F.

Rheumatology (Oxford). 2016 Aug;55(8):1412-20. doi: 10.1093/rheumatology/kew032. Epub 2016 Apr 18.

PMID:
27094596
39.

Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin.

Gistelinck C, Gioia R, Gagliardi A, Tonelli F, Marchese L, Bianchi L, Landi C, Bini L, Huysseune A, Witten PE, Staes A, Gevaert K, De Rocker N, Menten B, Malfait F, Leikin S, Carra S, Tenni R, Rossi A, De Paepe A, Coucke P, Willaert A, Forlino A.

Sci Rep. 2016 Feb 15;6:21540. doi: 10.1038/srep21540.

40.

Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.

Acke FR, Swinnen FK, Malfait F, Dhooge IJ, De Leenheer EM.

Eur Arch Otorhinolaryngol. 2016 Oct;273(10):3025-34. doi: 10.1007/s00405-016-3896-6. Epub 2016 Jan 19.

PMID:
26786361
41.

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
42.

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family.

Syx D, Symoens S, Steyaert W, De Paepe A, Coucke PJ, Malfait F.

Dis Markers. 2015;2015:828970. doi: 10.1155/2015/828970. Epub 2015 Oct 4.

43.

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.

Symoens S, Barnes AM, Gistelinck C, Malfait F, Guillemyn B, Steyaert W, Syx D, D'hondt S, Biervliet M, De Backer J, Witten EP, Leikin S, Makareeva E, Gillessen-Kaesbach G, Huysseune A, Vleminckx K, Willaert A, De Paepe A, Marini JC, Coucke PJ.

Am J Hum Genet. 2015 Oct 1;97(4):521-34. doi: 10.1016/j.ajhg.2015.08.009. Epub 2015 Sep 10.

44.

The Genetics of Soft Connective Tissue Disorders.

Vanakker O, Callewaert B, Malfait F, Coucke P.

Annu Rev Genomics Hum Genet. 2015;16:229-55. doi: 10.1146/annurev-genom-090314-050039. Epub 2015 May 18. Review.

PMID:
26002060
45.

Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists.

Rombaut L, Deane J, Simmonds J, De Wandele I, De Paepe A, Malfait F, Calders P.

Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):76-83. doi: 10.1002/ajmg.c.31434.

PMID:
25821093
46.

Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.

Syx D, Van Damme T, Symoens S, Maiburg MC, van de Laar I, Morton J, Suri M, Del Campo M, Hausser I, Hermanns-Lê T, De Paepe A, Malfait F.

Hum Mutat. 2015 May;36(5):535-47. doi: 10.1002/humu.22774. Epub 2015 Apr 6. Review.

PMID:
25703627
47.

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.

Syx D, Guillemyn B, Symoens S, Sousa AB, Medeira A, Whiteford M, Hermanns-Lê T, Coucke PJ, De Paepe A, Malfait F.

J Bone Miner Res. 2015 Aug;30(8):1445-56. doi: 10.1002/jbmr.2473. Epub 2015 May 21.

48.

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.

Acke FR, Malfait F, Vanakker OM, Steyaert W, De Leeneer K, Mortier G, Dhooge I, De Paepe A, De Leenheer EM, Coucke PJ.

Mol Genet Metab. 2014 Nov;113(3):230-5. doi: 10.1016/j.ymgme.2014.09.001. Epub 2014 Sep 8.

PMID:
25240749
49.

Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure.

Symoens S, Hulmes DJ, Bourhis JM, Coucke PJ, De Paepe A, Malfait F.

Hum Mutat. 2014 Nov;35(11):1330-41. doi: 10.1002/humu.22677. Epub 2014 Oct 18.

PMID:
25146735
50.

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

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