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The development of the Belgian paediatric clinical trial network

Acta clinica belgica (English ed. Online), 2024-02, Vol.79 (1), p.34-45

2024

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

Human mutation, 2004-08, Vol.24 (2), p.140-146

2004

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Genetic variations in toll-like receptor pathway and lung function decline in Cystic Fibrosis patients

Human immunology, 2013-12, Vol.74 (12), p.1649-1655

2013

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Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene

Journal of investigative dermatology, 2004-10, Vol.123 (4), p.656-663

2004

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Polymorphisms in the ficolin 1 gene (FCN1) are associated with susceptibility to the development of rheumatoid arthritis

Rheumatology (Oxford, England), 2007-12, Vol.46 (12), p.1792-1795

2007

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A Novel Disorder Caused by Defective Biosynthesis of N-Linked Oligosaccharides Due to Glucosidase I Deficiency

American journal of human genetics, 2000-06, Vol.66 (6), p.1744-1756

2000

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Extremes of l‐ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene

Clinical and experimental immunology, 2007-10, Vol.150 (1), p.99-104

2007

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Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen

American journal of human genetics, 2000-04, Vol.66 (4), p.1398-1402

2000

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Association of the type I collagen alpha1 Sp1 polymorphism, bone density and upper limb muscle strength in community-dwelling elderly men

Osteoporosis international, 2001-10, Vol.12 (10), p.895-901

2001

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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

Journal of medical genetics, 2004-07, Vol.41 (7), p.e96-e96

2004

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

Journal of medical genetics, 2000-04, Vol.37 (4), p.263-271

2000

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The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients

Human mutation, 2005-01, Vol.25 (1), p.28-37

2005

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

Archives of internal medicine (1960), 2001-11, Vol.161 (20), p.2447-2454

2001

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

Journal of medical genetics, 2000-03, Vol.37 (3), p.220-224

2000

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Functional mannose-binding lectin haplotype variants are associated with Alzheimer's disease

Journal of Alzheimer's disease, 2013-01, Vol.35 (1), p.121-127

2013

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

Prenatal diagnosis, 2002-01, Vol.22 (1), p.22-28

2002

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Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis

Nature genetics, 1992-06, Vol.1 (3), p.214-217

1992

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Preterm premature rupture of membranes in a patient with the hypermobility type of the Ehlers-Danlos syndrome : A case report

Fetal diagnosis and therapy, 1999-07, Vol.14 (4), p.244-247

1999

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

Journal of medical genetics, 2000-05, Vol.37 (5), p.371-375

2000

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Heritable collagen disorders: from genotype to phenotype

Acta clinica belgica (English ed. Online), 2001-01, Vol.56 (1), p.10-16

2001

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Gene polymorphisms of Toll-like and related recognition receptors in relation to the vaginal carriage of Gardnerella vaginalis and Atopobium vaginae

Journal of reproductive immunology, 2009, Vol.79 (2), p.163-173

2009

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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

Matrix biology, 1998, Vol.16 (6), p.349-352

1998

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Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene

British journal of dermatology (1951), 2001-05, Vol.144 (5), p.1086-1087

2001

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Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-Sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations in 15 Patients with Osteogenesis Imperfecta Type I: Identification of Common Sequences of Null-Allele Mutations

American journal of human genetics, 1998-01, Vol.62 (1), p.98-110

1998

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Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: Previously undescribed MCA/MR syndrome

American journal of medical genetics, 2001-12, Vol.104 (3), p.221-224

2001

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The development of the Belgian paediatric clinical trial network

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

Genetic variations in toll-like receptor pathway and lung function decline in Cystic Fibrosis patients

Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene

Polymorphisms in the ficolin 1 gene (FCN1) are associated with susceptibility to the development of rheumatoid arthritis

A Novel Disorder Caused by Defective Biosynthesis of N-Linked Oligosaccharides Due to Glucosidase I Deficiency

Extremes of l‐ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene

Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen

Association of the type I collagen alpha1 Sp1 polymorphism, bone density and upper limb muscle strength in community-dwelling elderly men

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

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

The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients

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

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

Functional mannose-binding lectin haplotype variants are associated with Alzheimer's disease

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

Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis

Preterm premature rupture of membranes in a patient with the hypermobility type of the Ehlers-Danlos syndrome : A case report

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

Heritable collagen disorders: from genotype to phenotype

Gene polymorphisms of Toll-like and related recognition receptors in relation to the vaginal carriage of Gardnerella vaginalis and Atopobium vaginae

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

Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene

Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-Sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations in 15 Patients with Osteogenesis Imperfecta Type I: Identification of Common Sequences of Null-Allele Mutations

Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: Previously undescribed MCA/MR syndrome

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