Nuytinck L - Search Results

1

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: nuytinck l. Arch Intern Med. 2001 Nov 12;161(20):2447-54. doi: 10.1001/archinte.161.20.2447. Arch Intern Med. 2001. PMID: 11700157

2

Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).

Loeys B, Nuytinck L, Van Acker P, Walraedt S, Bonduelle M, Sermon K, Hamel B, Sanchez A, Messiaen L, De Paepe A. Loeys B, et al. Among authors: nuytinck l. Prenat Diagn. 2002 Jan;22(1):22-8. Prenat Diagn. 2002. PMID: 11810645

3

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

Loeys B, De Backer J, Van Acker P, Wettinck K, Pals G, Nuytinck L, Coucke P, De Paepe A. Loeys B, et al. Among authors: nuytinck l. Hum Mutat. 2004 Aug;24(2):140-6. doi: 10.1002/humu.20070. Hum Mutat. 2004. PMID: 15241795

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

5

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: nuytinck l. Pediatr Radiol. 1998 Oct;28(10):781-9. doi: 10.1007/s002470050465. Pediatr Radiol. 1998. PMID: 9799301

6

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: nuytinck l. 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.

7

Heritable collagen disorders: from genotype to phenotype.

De Paepe A, Nuytinck L. De Paepe A, et al. Among authors: nuytinck l. 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

Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient.

Gardella R, Nuytinck L, Barlati S, Van Acker P, Tadini G, De Paepe A, Colombi M. Gardella R, et al. Among authors: nuytinck l. Clin Exp Dermatol. 2001 Nov;26(8):710-3. doi: 10.1046/j.1365-2230.2001.00924.x. Clin Exp Dermatol. 2001. PMID: 11722462

9

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

Collod-Béroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, Béroud C, Boileau C. Collod-Béroud G, et al. Among authors: nuytinck l. Hum Mutat. 2003 Sep;22(3):199-208. doi: 10.1002/humu.10249. Hum Mutat. 2003. PMID: 12938084 Review.

10

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

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