Nuytinck L - Search Results

1

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

2

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. 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.

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. Among authors: nuytinck l. Hum Genet. 1997 Apr;99(4):478-83. doi: 10.1007/s004390050392. Hum Genet. 1997. PMID: 9099837

4

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. 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.

5

Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.

Leroy JG, Nuytinck L, Lambert J, Naeyaert JM, Mortier GR. Leroy JG, et al. Among authors: nuytinck l. Am J Med Genet A. 2007 Dec 15;143A(24):3144-9. doi: 10.1002/ajmg.a.31966. Am J Med Genet A. 2007. PMID: 18000903

6

Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.

Nuytinck L, De Paepe A, Renard JP, Adriaens F, Leroy J. Nuytinck L, et al. Hum Mutat. 1994;3(3):268-74. doi: 10.1002/humu.1380030315. Hum Mutat. 1994. PMID: 8019562

7

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. Hum Genet. 1996 Mar;97(3):324-9. doi: 10.1007/BF02185764. Hum Genet. 1996. PMID: 8786074

8

Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

De Paepe A, Nuytinck L, Hausser I, Anton-Lamprecht I, Naeyaert JM. De Paepe A, et al. Among authors: nuytinck l. Am J Hum Genet. 1997 Mar;60(3):547-54. Am J Hum Genet. 1997. PMID: 9042913 Free PMC article.

9

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. Eur J Hum Genet. 1997 May-Jun;5(3):161-7. Eur J Hum Genet. 1997. PMID: 9272740

10

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. Matrix Biol. 1998 Jan;16(6):349-52. doi: 10.1016/s0945-053x(98)90007-5. Matrix Biol. 1998. PMID: 9503369

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