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Kindler syndrome

Clinical and experimental dermatology, 2004-03, Vol.29 (2), p.116-121

Ashton, G. H. S.

2004

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Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa

Clinical and experimental dermatology, 2005-01, Vol.30 (1), p.71-74

2005

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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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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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Prenatal diagnosis for severe inherited skin disorders: 25 years' experience

British journal of dermatology (1951), 2006-01, Vol.154 (1), p.106-113

2006

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Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins

Clinical and experimental dermatology, 2005-03, Vol.30 (2), p.180-182

2005

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Fish odour syndrome with features of both primary and secondary trimethylaminuria

Clinical and experimental dermatology, 2003-03, Vol.28 (2), p.203-205

2003

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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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Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa

British journal of dermatology (1951), 2003-10, Vol.149 (4), p.810-818

2003

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An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene

Clinical and experimental dermatology, 2005-05, Vol.30 (3), p.286-288

2005

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EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis

British journal of dermatology (1951), 2002-02, Vol.146 (2), p.216-220

2002

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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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Sequence variations in the flavin-containing mono-oxygenase 3 gene (FMO3) in fish odour syndrome

British journal of dermatology (1951), 1999-01, Vol.140 (1), p.164-167

1999

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Human Ro60 (SSA2) genomic organization and sequence alterations, examined in cutaneous lupus erythematosus

British journal of dermatology (1951), 2002-02, Vol.146 (2), p.210-215

2002

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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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A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa

Clinical and experimental dermatology, 1999-01, Vol.24 (1), p.37-39

1999

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Recurrent molecular abnormalities in type VII collagen in southern Italian patients with recessive dystrophic epidermolysis bullosa

Clinical and experimental dermatology, 1999-05, Vol.24 (3), p.232-235

1999

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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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Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency

Journal of investigative dermatology, 1999-12, Vol.113 (6), p.940-946

1999

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Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis

Journal of investigative dermatology, 1999-10, Vol.113 (4), p.673-686

1999

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Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1

British journal of dermatology (1951), 1999-02, Vol.140 (2), p.297-307

1999

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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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Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa

British journal of dermatology (1951), 2004-07, Vol.151, p.70

2004

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α6β4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia

British journal of dermatology (1951), 2001-02, Vol.144 (2), p.408-414

2001

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Kindler syndrome

Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa

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

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

Prenatal diagnosis for severe inherited skin disorders: 25 years' experience

Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins

Fish odour syndrome with features of both primary and secondary trimethylaminuria

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

Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa

An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene

EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis

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

Sequence variations in the flavin-containing mono-oxygenase 3 gene (FMO3) in fish odour syndrome

Human Ro60 (SSA2) genomic organization and sequence alterations, examined in cutaneous lupus erythematosus

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

A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa

Recurrent molecular abnormalities in type VII collagen in southern Italian patients with recessive dystrophic epidermolysis bullosa

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

Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency

Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis

Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1

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

Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa

α6β4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia

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