Malfait F - Search Results

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. Nampoothiri S, et al. Among authors: malfait f. Am J Med Genet A. 2019 Jun;179(6):908-914. doi: 10.1002/ajmg.a.61119. Epub 2019 Mar 21. Am J Med Genet A. 2019. PMID: 30896082

2

Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype.

Symoens S, Nuytinck L, Legius E, Malfait F, Coucke PJ, De Paepe A. Symoens S, et al. Among authors: malfait f. J Med Genet. 2004 Jul;41(7):e96. doi: 10.1136/jmg.2003.014589. J Med Genet. 2004. PMID: 15235039 Free PMC article. No abstract available.

3

The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).

Malfait F, De Coster P, Hausser I, van Essen AJ, Franck P, Colige A, Nusgens B, Martens L, De Paepe A. Malfait F, et al. Am J Med Genet A. 2004 Nov 15;131(1):18-28. doi: 10.1002/ajmg.a.30299. Am J Med Genet A. 2004. PMID: 15389701 Free article.

4

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. Malfait F, et al. Hum Mutat. 2005 Jan;25(1):28-37. doi: 10.1002/humu.20107. Hum Mutat. 2005. PMID: 15580559

5

Molecular genetics in classic Ehlers-Danlos syndrome.

Malfait F, De Paepe A. Malfait F, et al. Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):17-23. doi: 10.1002/ajmg.c.30070. Am J Med Genet C Semin Med Genet. 2005. PMID: 16278879 Review.

6

Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

Malfait F, Symoens S, Coucke P, Nunes L, De Almeida S, De Paepe A. Malfait F, et al. J Med Genet. 2006 Jul;43(7):e36. doi: 10.1136/jmg.2005.038224. J Med Genet. 2006. PMID: 16816023 Free PMC article.

7

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.

Malfait F, Symoens S, De Backer J, Hermanns-Lê T, Sakalihasan N, Lapière CM, Coucke P, De Paepe A. Malfait F, et al. Hum Mutat. 2007 Apr;28(4):387-95. doi: 10.1002/humu.20455. Hum Mutat. 2007. PMID: 17211858

8

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.

Symoens S, Malfait F, Renard M, André J, Hausser I, Loeys B, Coucke P, De Paepe A. Symoens S, et al. Among authors: malfait f. Hum Mutat. 2009 Feb;30(2):E395-403. doi: 10.1002/humu.20887. Hum Mutat. 2009. PMID: 18972565

9

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.

Willaert A, Malfait F, Symoens S, Gevaert K, Kayserili H, Megarbane A, Mortier G, Leroy JG, Coucke PJ, De Paepe A. Willaert A, et al. Among authors: malfait f. J Med Genet. 2009 Apr;46(4):233-41. doi: 10.1136/jmg.2008.062729. Epub 2008 Dec 16. J Med Genet. 2009. PMID: 19088120

10

Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome.

Verstraeten E, Symoens S, Renard M, Callewaert B, Vandekerckhove K, De Backer J, Malfait F, Marks L, Coucke P, De Paepe A, Loeys B. Verstraeten E, et al. Among authors: malfait f. Clin Dysmorphol. 2010 Jul;19(3):119-122. doi: 10.1097/MCD.0b013e3283353105. Clin Dysmorphol. 2010. PMID: 20308875

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

165 results

Search Page

Filters