de Paepe A - Search Results

1

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

Mortier G, Nuytinck L, Craen M, Renard JP, Leroy JG, de Paepe A. Mortier G, et al. Among authors: de paepe a. J Med Genet. 2000 Mar;37(3):220-4. doi: 10.1136/jmg.37.3.220. J Med Genet. 2000. PMID: 10777366 Free PMC article. No abstract available.

2

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.

Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH. Mortier GR, et al. Among authors: de paepe a. J Med Genet. 2000 Apr;37(4):263-71. doi: 10.1136/jmg.37.4.263. J Med Genet. 2000. PMID: 10745044 Free PMC article.

3

Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.

Nuytinck L, Narcisi P, Nicholls A, Renard JP, Pope FM, De Paepe A. Nuytinck L, et al. Among authors: de paepe a. J Med Genet. 1992 Jun;29(6):375-80. doi: 10.1136/jmg.29.6.375. J Med Genet. 1992. PMID: 1619632 Free PMC article.

4

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

5

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.

6

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

7

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH. Briggs MD, et al. Among authors: de paepe a. Am J Hum Genet. 1998 Feb;62(2):311-9. doi: 10.1086/301713. Am J Hum Genet. 1998. PMID: 9463320 Free PMC article.

8

Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.

Giunta C, Nuytinck L, Raghunath M, Hausser I, De Paepe A, Steinmann B. Giunta C, et al. Among authors: de paepe a. Am J Med Genet. 2002 May 15;109(4):284-90. doi: 10.1002/ajmg.10373. Am J Med Genet. 2002. PMID: 11992482

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: de paepe a. 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

Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes.

Nuytinck L, Dalgleish R, Spotila L, Renard JP, Van Regemorter N, De Paepe A. Nuytinck L, et al. Among authors: de paepe a. Hum Genet. 1996 Mar;97(3):324-9. doi: 10.1007/BF02185764. Hum Genet. 1996. PMID: 8786074

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