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COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture

British journal of dermatology (1951), 1996-08, Vol.135 (2), p.163-181

1996

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Increasing knowledge on Infection Prevention and Control during Ebola outbreak in Sierra Leone

European journal of public health, 2015-10, Vol.25 (suppl_3)

2015

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Disappearance of central pain following iatrogenic stroke

Acta neurologica Belgica, 2001-12, Vol.101 (4), p.221-223

2001

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The American Dental Association's commitment to electronic data interchange

Journal of dental education, 1996-01, Vol.60 (1), p.28-32

Narcisi, JP

1996

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

Journal of medical genetics, 1992-06, Vol.29 (6), p.375-380

1992

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COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture

British journal of dermatology (1951), 1996-08, Vol.135 (2), p.163-181

1996

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Collagen deficiency and ruptured cerebral aneurysms. A clinical and biochemical study

Journal of neurosurgery, 1983-07, Vol.59 (1), p.16-20

1983

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A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation

Human genetics, 1992-06, Vol.89 (4), p.414-418

1992

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Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV

Journal of medical genetics, 1991-07, Vol.28 (7), p.458-463

1991

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A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV

Human genetics, 1992, Vol.88 (3), p.325-330

1992

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Clinical presentations of Ehlers Danlos syndrome type IV

Archives of disease in childhood, 1988-09, Vol.63 (9), p.1016-1025

1988

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Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree

Human genetics, 1988-03, Vol.78 (3), p.276-281

1988

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Type III collagen mutations cause fragile cerebral arteries

British journal of neurosurgery, 1991, Vol.5 (6), p.551-574

1991

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Spontaneous carotid cavernous fistula in Ehlers Danlos syndrome

Journal of neurology, neurosurgery and psychiatry, 1988-07, Vol.51 (7), p.984-986

1988

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Detection of type III collagen in skin fibroblasts from patients with Ehlers-Danlos syndrome type IV by immunofluorescence

British journal of dermatology (1951), 1988-01, Vol.118 (1), p.17-26

1988

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A family with Ehlers — Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen

Human molecular genetics, 1994-09, Vol.3 (9), p.1617-1620

1994

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Ehlers-Danlos syndrome type I: a clinical and ultrastructural study of a family with reduced amounts of collagen type III

British journal of dermatology (1951), 1987-07, Vol.117 (1), p.89-97

1987

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Type III collagen mutations in Ehlers Danlos Syndrome type IV and other related disorders

Clinical and experimental dermatology, 1988-09, Vol.13 (5), p.285-302

1988

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The electronic environment: understanding the process

Texas dental journal, 1993-10, Vol.110 (10), p.33

Narcisi, J P

1993

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Prenatal diagnosis and prevention of inherited abnormalities of collagen

Journal of inherited metabolic disease, 1989-03, Vol.12 (1), p.135-173

1989

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Ehlers-Danlos syndrome type IV mimicking non-accidental injury in a child

British journal of dermatology (1951), 1984-09, Vol.111 (3), p.341-345

1984

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Personal experience of the treatment of ruptured aortic aneurysms. The prognostic evaluation of some parameters

Minerva cardioangiologica, 2001-06, Vol.49 (3), p.179

2001

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Type III collagen deficiency with normal phenotype

Journal of the Royal Society of Medicine, 1983-06, Vol.76 (6), p.518-520

1983

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Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV

American journal of medical genetics, 1993-05, Vol.46 (3), p.278-283

1993

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Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers—Danlos syndrome type IV

Human molecular genetics, 1994-10, Vol.3 (10), p.1901-1902

1994

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COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture

Increasing knowledge on Infection Prevention and Control during Ebola outbreak in Sierra Leone

Disappearance of central pain following iatrogenic stroke

The American Dental Association's commitment to electronic data interchange

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

COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture

Collagen deficiency and ruptured cerebral aneurysms. A clinical and biochemical study

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation

Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV

A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV

Clinical presentations of Ehlers Danlos syndrome type IV

Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree

Type III collagen mutations cause fragile cerebral arteries

Spontaneous carotid cavernous fistula in Ehlers Danlos syndrome

Detection of type III collagen in skin fibroblasts from patients with Ehlers-Danlos syndrome type IV by immunofluorescence

A family with Ehlers — Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen

Ehlers-Danlos syndrome type I: a clinical and ultrastructural study of a family with reduced amounts of collagen type III

Type III collagen mutations in Ehlers Danlos Syndrome type IV and other related disorders

The electronic environment: understanding the process

Prenatal diagnosis and prevention of inherited abnormalities of collagen

Ehlers-Danlos syndrome type IV mimicking non-accidental injury in a child

Personal experience of the treatment of ruptured aortic aneurysms. The prognostic evaluation of some parameters

Type III collagen deficiency with normal phenotype

Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV

Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers—Danlos syndrome type IV

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