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Next-generation sequencing: comprehensive genetic testing for epidermolysis bullosa

British journal of dermatology (1951), 2015-09, Vol.173 (3), p.638-639

Pfendner, E.G.

2015

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Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants

Journal of medical genetics, 2006-08, Vol.43 (8), p.641-652

2006

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Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations

Experimental dermatology, 2005-04, Vol.14 (4), p.241-249

2005

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Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Journal of medical genetics, 2007-10, Vol.44 (10), p.621-628

2007

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Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes

Journal of medical genetics, 2007-03, Vol.44 (3), p.181-192

2007

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Plectin Gene Mutations Can Cause Epidermolysis Bullosa with Pyloric Atresia

Journal of investigative dermatology, 2005-01, Vol.124 (1), p.111-115

2005

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Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes

Human genetics, 2002-01, Vol.110 (1), p.41-51

2002

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Probing the fetal genome: progress in non-invasive prenatal diagnosis

Trends in molecular medicine, 2003-08, Vol.9 (8), p.339-343

2003

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The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis

Journal of investigative dermatology, 2001-08, Vol.117 (2), p.179-187

2001

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Epidermolysis Bullosa Simplex: Recurrent and De Novo Mutations in the KRT5 and KRT14 Genes, Phenotype/Genotype Correlations, and Implications for Genetic Counseling and Prenatal Diagnosis

Journal of general internal medicine : JGIM, 2005-08, Vol.125 (2), p.239-243

2005

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Epidermolysis bullosa with congenital pyloric atresia: Novel mutations in the β4 integrin gene (ITGB4) and genotype/phenotype correlations

Pediatric research, 2001-05, Vol.49 (5), p.618-626

2001

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Disorganization of the Desmin Cytoskeleton and Mitochondrial Dysfunction in Plectin-Related Epidermolysis Bullosa Simplex with Muscular Dystrophy

Journal of neuropathology and experimental neurology, 2002-06, Vol.61 (6), p.520-530

2002

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Epidermolytic Hyperkeratosis and Epidermolysis Bullosa Simplex Caused by Frameshift Mutations Altering the V2 Tail Domains of Keratin 1 and Keratin 5

Journal of investigative dermatology, 2003-04, Vol.120 (4), p.623-626

2003

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Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations

Pediatric research, 2001-05, Vol.49 (5), p.618-626

2001

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Epidermolysis Bullosa Carrier Frequencies in the US Population

Journal of investigative dermatology, 2001-03, Vol.116 (3), p.483-484

2001

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Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency

Journal of investigative dermatology, 2000-09, Vol.115 (3), p.493-498

2000

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Prenatal diagnosis for Epidermolysis bullosa: a study of 144 consecutive pregnancies at risk

Prenatal diagnosis, 2003-06, Vol.23 (6), p.447-456

2003

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Junctional epidermolysis bullosa in the Middle East: Clinical and genetic studies in a series of consanguineous families

Journal of the American Academy of Dermatology, 2002-04, Vol.46 (4), p.510-516

2002

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Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation

European journal of pediatrics, 2004-04, Vol.163 (4-5), p.218-222

2004

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Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site

American journal of medical genetics, 1992-04, Vol.43 (1-2), p.237-243

1992

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Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1

Prenatal diagnosis, 1999-10, Vol.19 (10), p.941-946

1999

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Progesterone, glucocorticoid and estradiol receptors in MCF-7 cells bind to chromatin

Molecular and cellular endocrinology, 1983-06, Vol.30 (3), p.267-278

1983

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Epidermolysis bullosa simplex in Israel: clinical and genetic features

Archives of dermatology (1960), 2003-04, Vol.139 (4), p.498

2003

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Direct DNA testing for fragile X syndrome

American journal of diseases of children (1960), 1993-11, Vol.147 (11), p.1231

1993

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A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus

Genomics (San Diego, Calif.), 1989, Vol.4 (1), p.105-109

1989

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Next-generation sequencing: comprehensive genetic testing for epidermolysis bullosa

Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants

Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations

Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes

Plectin Gene Mutations Can Cause Epidermolysis Bullosa with Pyloric Atresia

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes

Probing the fetal genome: progress in non-invasive prenatal diagnosis

The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis

Epidermolysis Bullosa Simplex: Recurrent and De Novo Mutations in the KRT5 and KRT14 Genes, Phenotype/Genotype Correlations, and Implications for Genetic Counseling and Prenatal Diagnosis

Epidermolysis bullosa with congenital pyloric atresia: Novel mutations in the β4 integrin gene (ITGB4) and genotype/phenotype correlations

Disorganization of the Desmin Cytoskeleton and Mitochondrial Dysfunction in Plectin-Related Epidermolysis Bullosa Simplex with Muscular Dystrophy

Epidermolytic Hyperkeratosis and Epidermolysis Bullosa Simplex Caused by Frameshift Mutations Altering the V2 Tail Domains of Keratin 1 and Keratin 5

Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations

Epidermolysis Bullosa Carrier Frequencies in the US Population

Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency

Prenatal diagnosis for Epidermolysis bullosa: a study of 144 consecutive pregnancies at risk

Junctional epidermolysis bullosa in the Middle East: Clinical and genetic studies in a series of consanguineous families

Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation

Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site

Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1

Progesterone, glucocorticoid and estradiol receptors in MCF-7 cells bind to chromatin

Epidermolysis bullosa simplex in Israel: clinical and genetic features

Direct DNA testing for fragile X syndrome

A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus

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