P. Narcisi

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SOME PATIENTS WITH CEREBRAL ANEURYSMS ARE DEFICIENT IN TYPE III COLLAGEN

J. Bartlett, F. Pope, P. Narcisi, 1981, The Lancet.

Spontaneous carotid cavernous fistula in Ehlers Danlos syndrome.

D. Compston, M. Hourihan, P. Narcisi, 1988, Journal of neurology, neurosurgery, and psychiatry.

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

H. Kuivaniemi, G. Tromp, P. Narcisi, 1993, American journal of medical genetics.

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

D. Roberts, F. Pope, P. Narcisi, 1984, The British journal of dermatology.

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

P. Narcisi, A. Richards, F. Pope, 1994, Human molecular genetics.

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

J. Bartlett, F. Pope, P. Narcisi, 1983, Journal of neurosurgery.

The Sierra Leone Ultrasound Rainbow4Africa Project (SLURP): an observational study of ultrasound effectiveness in developing countries

E. Boero, A. Lamorte, P. Narcisi, 2016, Critical Ultrasound Journal.

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

A. De Paepe, L. Nuytinck, J. Renard, 1992, Journal of medical genetics.

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

J. Lloyd, P. Narcisi, A. Nicholls, 1992, Human Genetics.

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

R. Dalgleish, A. Paepe, F. Keyser, 1988, Human Genetics.

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

A. Paepe, J. Lloyd, P. Narcisi, 2004, Human Genetics.

A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.

J. Lloyd, P. Narcisi, M. Pope, 1993, Journal of medical genetics.

Management of peristomal pyoderma gangrenosum - two different approaches for the same clinical problem

P. Narcisi, A. Nicholls, M. Liberman, 2011 .

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

A. Paepe, F. Keyser, P. Narcisi, 1987, The British journal of dermatology.

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

A. Paepe, J. McEwan, D. Compston, 1988, Clinical and experimental dermatology.

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

F. Pope, P. Narcisi, A. Temple, 1988, The British journal of dermatology.

Werner's syndrome. Biochemical and cytogenetic studies.

Vijayalaxmi, D. Gawkrodger, J. Hunter, 1985, Archives of dermatology.

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. De Paepe, J. Lloyd, P. Narcisi, 1991, Journal of medical genetics.

Safety of magnesium-lidocaine combination for severe head injury: the Turin lidomag pilot study.

S. Canavero, P. Narcisi, V. Bonicalzi, 2003, Surgical neurology.

Prenatal diagnosis and prevention of inherited abnormalities of collagen

F. Pope, P. Narcisi, A. Nicholls, 1989, Journal of Inherited Metabolic Disease.

Type III Collagen Deficiency with Normal Phenotype 1

A. Child, F. Pope, P. Narcisi, 1983, Journal of the Royal Society of Medicine.

Clinical presentations of Ehlers Danlos syndrome type IV.

F. Pope, P. Narcisi, A. Nicholls, 1988, Archives of disease in childhood.

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

P. Narcisi, M. Merlo, S. Levi, 2001, Minerva cardioangiologica.

The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV.

J. Lloyd, P. Narcisi, A. Richards, 1993, Journal of medical genetics.

COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture

G. Pals, F. Pope, P. Narcisi, 1996, The British journal of dermatology.

Ehlers-Danlos Syndrome, Type IV

P. Narcisi, Carole Ferguson, F. Michael, 2020, Definitions.

Type III collagen mutations cause fragile cerebral arteries.

D. T. Hope, W. Mcdonald, R. Kapoor, 1991, British journal of neurosurgery.