De Paepe A - Search Results

1

Bruck syndrome: neonatal presentation and natural course in three patients.

Leroy JG, Nuytinck L, De Paepe A, De Rammelaere M, Gillerot Y, Verloes A, Loeys B, De Groote W. Leroy JG, et al. Among authors: de paepe a, de groote w, de rammelaere m. Pediatr Radiol. 1998 Oct;28(10):781-9. doi: 10.1007/s002470050465. Pediatr Radiol. 1998. PMID: 9799301

2

Osteoporosis-pseudoglioma syndrome.

De Paepe A, Leroy JG, Nuytinck L, Meire F, Capoen J. De Paepe A, et al. Am J Med Genet. 1993 Jan 1;45(1):30-7. doi: 10.1002/ajmg.1320450110. Am J Med Genet. 1993. PMID: 8418655

3

Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes.

De Paepe A, Nuytinck L, Raes M, Fryns JP. De Paepe A, et al. Hum Genet. 1997 Apr;99(4):478-83. doi: 10.1007/s004390050392. Hum Genet. 1997. PMID: 9099837

4

Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain.

Nuytinck L, Wettinck K, Freund M, Van Maldergem L, Fabry G, De Paepe A. Nuytinck L, et al. Among authors: de paepe a. Eur J Hum Genet. 1997 May-Jun;5(3):161-7. Eur J Hum Genet. 1997. PMID: 9272740

5

A four base pair insertion polymorphism in the 3' untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I.

Nuytinck L, Coppin C, De Paepe A. Nuytinck L, et al. Among authors: de paepe a. Matrix Biol. 1998 Jan;16(6):349-52. doi: 10.1016/s0945-053x(98)90007-5. Matrix Biol. 1998. PMID: 9503369

6

Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation.

Nuytinck L, Tükel T, Kayserili H, Apak MY, De Paepe A. Nuytinck L, et al. Among authors: de paepe a. J Med Genet. 2000 May;37(5):371-5. doi: 10.1136/jmg.37.5.371. J Med Genet. 2000. PMID: 10807697 Free PMC article.

7

Heritable collagen disorders: from genotype to phenotype.

De Paepe A, Nuytinck L. De Paepe A, et al. Acta Clin Belg. 2001 Jan-Feb;56(1):10-6. doi: 10.1179/acb.2001.003. Acta Clin Belg. 2001. PMID: 11307477 Review. No abstract available.

8

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A. Loeys B, et al. Among authors: de paepe a, de bie s. Arch Intern Med. 2001 Nov 12;161(20):2447-54. doi: 10.1001/archinte.161.20.2447. Arch Intern Med. 2001. PMID: 11700157

9

New insights in the pathogenesis of aortic aneurysms.

Loeys B, De Paepe A. Loeys B, et al. Among authors: de paepe a. Verh K Acad Geneeskd Belg. 2008;70(2):69-84. Verh K Acad Geneeskd Belg. 2008. PMID: 18630721 Review.

10

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. Among authors: de paepe a. Hum Mutat. 2005 Jan;25(1):28-37. doi: 10.1002/humu.20107. Hum Mutat. 2005. PMID: 15580559

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

499 results

Search Page

Filters