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Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome

Frontiers in genetics, 2023, Vol.14, p.1136339-1136339

2023

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Electron microscopy in the diagnosis of Ehlers–Danlos syndromes: correlation with clinical and genetic investigations

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.698-707

2020

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Recalcitrant generalized eruption and low alkaline phosphatase: think zinc

Clinical and experimental dermatology, 2011-03, Vol.36 (2), p.225-226

2011

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COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes

British journal of ophthalmology, 2000-04, Vol.84 (4), p.364-371

2000

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Elastosis perforans serpiginosa and associated disorders

Clinical and experimental dermatology, 2001-09, Vol.26 (6), p.521-524

2001

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Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule

Journal of medical genetics, 2002-09, Vol.39 (9), p.661-665

2002

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Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness

Clinical and experimental dermatology, 2016-10, Vol.41 (7), p.771-774

2016

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The Gene Responsible for Werner Syndrome May be a Cell Division "Counting" Gene

Proceedings of the National Academy of Sciences - PNAS, 1993-12, Vol.90 (24), p.12030-12034

1993

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Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

Nature genetics, 2000-06, Vol.25 (2), p.223-227

2000

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A light and electron microscopic study of osteogenesis imperfecta bone samples, with reference to collagen chemistry and clinical phenotype

The Journal of pathology, 2000-11, Vol.192 (3), p.385-395

2000

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An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome

Journal of medical genetics, 1996-11, Vol.33 (11), p.940-946

1996

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Paediatric surgical complications of Ehlers-Danlos syndrome

European journal of pediatric surgery, 2014-08, Vol.24 (4), p.e1-e2

2014

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A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia

QJM : An International Journal of Medicine, 2003-09, Vol.96 (9), p.663-671

2003

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Classification of pseudoxanthoma elasticum: Report of a consensus conference

Journal of the American Academy of Dermatology, 1994, Vol.30 (1), p.103-107

1994

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A Point Mutation in an Intronic Branch Site Results in Aberrant Splicing of COL5A1 and in Ehlers-Danlos Syndrome Type II in Two British Families

American journal of human genetics, 1998-08, Vol.63 (2), p.390-398

1998

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A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II

Journal of medical genetics, 1998-10, Vol.35 (10), p.846-848

1998

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Pseudoxanthoma Elasticum Maps to an 820-kb Region of the p13.1 Region of Chromosome 16

Genomics (San Diego, Calif.), 1999-11, Vol.62 (1), p.1-10

1999

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Ehlers-Danlos syndrome has varied molecular mechanisms

Journal of medical genetics, 1997-05, Vol.34 (5), p.400-410

1997

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Palmoplantar contractures in childhood: a rare complication of vascular Ehlers-Danlos syndrome

Clinical and experimental dermatology, 2013-07, Vol.38 (5), p.517-519

2013

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Cerebrovascular disease in Ehlers-Danlos syndrome type IV

Stroke (1970), 1990-04, Vol.21 (4), p.626-632

1990

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A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum

American journal of human genetics, 2001-10, Vol.69 (4), p.749-764

2001

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Morphometric analysis of type I collagen fibrils in the osteoid of osteogenesis imperfecta

Calcified tissue international, 1999-11, Vol.65 (5), p.390-395

1999

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Two Mutations in Marfan Syndrome Resulting in Truncated Fibrillin Polypeptides

Proceedings of the National Academy of Sciences - PNAS, 1992-07, Vol.89 (13), p.5917-5921

1992

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Connective tissue naevus (collagenoma) in a patient with benign joint hypermobility syndrome (Ehlers-Danlos syndrome type III)

Clinical and experimental dermatology, 2003-05, Vol.28 (3), p.323-325

2003

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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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Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome

Electron microscopy in the diagnosis of Ehlers–Danlos syndromes: correlation with clinical and genetic investigations

Recalcitrant generalized eruption and low alkaline phosphatase: think zinc

COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes

Elastosis perforans serpiginosa and associated disorders

Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule

Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness

The Gene Responsible for Werner Syndrome May be a Cell Division "Counting" Gene

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

A light and electron microscopic study of osteogenesis imperfecta bone samples, with reference to collagen chemistry and clinical phenotype

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome

Paediatric surgical complications of Ehlers-Danlos syndrome

A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia

Classification of pseudoxanthoma elasticum: Report of a consensus conference

A Point Mutation in an Intronic Branch Site Results in Aberrant Splicing of COL5A1 and in Ehlers-Danlos Syndrome Type II in Two British Families

A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II

Pseudoxanthoma Elasticum Maps to an 820-kb Region of the p13.1 Region of Chromosome 16

Ehlers-Danlos syndrome has varied molecular mechanisms

Palmoplantar contractures in childhood: a rare complication of vascular Ehlers-Danlos syndrome

Cerebrovascular disease in Ehlers-Danlos syndrome type IV

A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum

Morphometric analysis of type I collagen fibrils in the osteoid of osteogenesis imperfecta

Two Mutations in Marfan Syndrome Resulting in Truncated Fibrillin Polypeptides

Connective tissue naevus (collagenoma) in a patient with benign joint hypermobility syndrome (Ehlers-Danlos syndrome type III)

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

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