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Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1

Experimental dermatology, 2002-04, Vol.11 (2), p.107-114

2002

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Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma

British journal of dermatology (1951), 2009-09, Vol.161 (3), p.692-694

2009

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Retrospective diagnosis of Kindler syndrome in a 37-year-old man

Clinical and experimental dermatology, 2006-01, Vol.31 (1), p.45-47

2006

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Pustular psoriasis of pregnancy treated with ciclosporin and high-dose prednisolone

Clinical and experimental dermatology, 2005-11, Vol.30 (6), p.709-710

2005

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New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens

British journal of dermatology (1951), 2001-08, Vol.145 (2), p.330-335

2001

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Mitten deformity in severe generalized recessive dystrophic epidermolysis bullosa: histological, immunofluorescence, and ultrastructural study

Journal of cutaneous pathology, 1992-10, Vol.19 (5), p.385-389

1992

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Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1

Clinical and experimental dermatology, 2001-01, Vol.26 (1), p.97-99

2001

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A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa

Experimental dermatology, 1999-02, Vol.8 (1), p.22-29

1999

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The management of dystrophic epidermolysis bullosa

Clinical and experimental dermatology, 1995-05, Vol.20 (3), p.179-188

1995

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Moderation of Phenotypic Severity in Dystrophic and Junctional Forms of Epidermolysis Bullosa Through In-Frame Skipping of Exons Containing Non-Sense or Frameshift Mutations

Journal of investigative dermatology, 1999-09, Vol.113 (3), p.314-321

1999

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Allelic Heterogeneity of Dominant and Recessive COL7A1 Mutations Underlying Epidermolysis Bullosa Pruriginosa

Journal of investigative dermatology, 1999-06, Vol.112 (6), p.984-987

1999

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Altered distribution of keratinization markers in epidermolytic hyperkeratosis

Archives of Dermatological Research, 1995, Vol.287 (8), p.705-711

1995

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Severe Palmo-Plantar Hyperkeratosis in Dowling–Meara Epidermolysis Bullosa Simplex Caused by a Mutation in the Keratin 14 Gene (KRT14)

Journal of investigative dermatology, 1998-11, Vol.111 (5), p.893-895

1998

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A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa

British journal of dermatology (1951), 1998-10, Vol.139 (4), p.730-737

1998

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Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa

British journal of dermatology (1951), 1998-05, Vol.138 (5), p.852-858

1998

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Filaggrin expression in epidermolytic ichthyosis (epidermolytic hyperkeratosis)

British journal of dermatology (1951), 1994-12, Vol.131 (6), p.767-779

1994

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Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: Implications for prenatal diagnosis in one family

Prenatal diagnosis, 1995-07, Vol.15 (7), p.647-654

1995

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Intracellular expression of type VII collagen during wound healing in severe recessive dystrophic epidermolysis bullosa and normal human skin

British journal of dermatology (1951), 1992-10, Vol.127 (4), p.312-317

1992

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The first report of familial adult T‐cell leukaemia lymphoma in the United Kingdom

British journal of haematology, 1995-03, Vol.89 (3), p.615-619

1995

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Rapid Prenatal Diagnosis and Exclusion of Epidermolysis Bullosa Using Novel Antibody Probes

Journal of investigative dermatology, 1986-05, Vol.86 (5), p.603-605

1986

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Rapid prenatal diagnosis of epidermolysis bullosa letalis using GB3 monoclonal antibody

British journal of dermatology (1951), 1987-09, Vol.117 (3), p.271-275

1987

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Cholinergic dermographism

British journal of dermatology (1951), 1986-09, Vol.115 (3), p.371-377

1986

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Oesophageal web formation in dystrophic epidermolysis bullosa

Clinical and experimental dermatology, 1988-07, Vol.13 (4), p.279-281

1988

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Blistering in keratinocyte cultures: a regular phenomenon associated with differentiation

European journal of cell biology, 1986, Vol.39 (2), p.352-359

1986

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Prenatal diagnosis of bullous ichthyosiform erythroderma: detection of tonofilament clumps in fetal epidermal and amniotic fluid cells

Journal of medical genetics, 1986-02, Vol.23 (1), p.46-51

1986

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Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1

Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma

Retrospective diagnosis of Kindler syndrome in a 37-year-old man

Pustular psoriasis of pregnancy treated with ciclosporin and high-dose prednisolone

New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens

Mitten deformity in severe generalized recessive dystrophic epidermolysis bullosa: histological, immunofluorescence, and ultrastructural study

Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1

A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa

The management of dystrophic epidermolysis bullosa

Moderation of Phenotypic Severity in Dystrophic and Junctional Forms of Epidermolysis Bullosa Through In-Frame Skipping of Exons Containing Non-Sense or Frameshift Mutations

Allelic Heterogeneity of Dominant and Recessive COL7A1 Mutations Underlying Epidermolysis Bullosa Pruriginosa

Altered distribution of keratinization markers in epidermolytic hyperkeratosis

Severe Palmo-Plantar Hyperkeratosis in Dowling–Meara Epidermolysis Bullosa Simplex Caused by a Mutation in the Keratin 14 Gene (KRT14)

A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa

Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa

Filaggrin expression in epidermolytic ichthyosis (epidermolytic hyperkeratosis)

Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: Implications for prenatal diagnosis in one family

Intracellular expression of type VII collagen during wound healing in severe recessive dystrophic epidermolysis bullosa and normal human skin

The first report of familial adult T‐cell leukaemia lymphoma in the United Kingdom

Rapid Prenatal Diagnosis and Exclusion of Epidermolysis Bullosa Using Novel Antibody Probes

Rapid prenatal diagnosis of epidermolysis bullosa letalis using GB3 monoclonal antibody

Cholinergic dermographism

Oesophageal web formation in dystrophic epidermolysis bullosa

Blistering in keratinocyte cultures: a regular phenomenon associated with differentiation

Prenatal diagnosis of bullous ichthyosiform erythroderma: detection of tonofilament clumps in fetal epidermal and amniotic fluid cells

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