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Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

Experimental dermatology, 2009-01, Vol.18 (1), p.1-11

2009

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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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Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy

JAAD Case Reports, 2021-05, Vol.11, p.63-68

2021

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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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PLEC1 Mutations Underlie Adult-Onset Dilated Cardiomyopathy in Epidermolysis Bullosa Simplex with Muscular Dystrophy

Journal of investigative dermatology, 2010-04, Vol.130 (4), p.1178-1181

2010

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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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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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Retrospective Diagnosis of Fatal BP180-Deficient Non-Herlitz Junctional Epidermolysis Bullosa Suggested by Immunofluorescence (IF) Antigen-Mapping of Parental Carriers Bearing Enamel Defects

Journal of investigative dermatology, 2007-07, Vol.127 (7), p.1772-1775

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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Molecular Epidemiology of Hereditary Epidermolysis Bullosa in a Middle Eastern Population

Journal of investigative dermatology, 2006-04, Vol.126 (4), p.777-781

2006

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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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Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005

International journal of dermatology, 2007-08, Vol.46 (8), p.781-794

2007

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Dystrophic Epidermolysis Bullosa with One Dominant and One Recessive Mutation of the COL7A1 Gene in a Child with Deafness

Pediatric dermatology, 2008-03, Vol.25 (2), p.210-214

2008

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Pseudoxanthoma elasticum: genetic diagnostic markers

Expert opinion on medical diagnostics, 2008-01, Vol.2 (1), p.63-79

2008

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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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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 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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Psychosocial aspects of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005

International journal of dermatology, 2007-08, Vol.46 (8), p.809-814

2007

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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 Carrier Frequencies in the US Population

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

2001

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What Syndrome Is This?

Pediatric dermatology, 2007-05, Vol.24 (3), p.306-308

2007

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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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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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Psychosocial aspects of epidermolysis bullosa : Proceedings of the lind International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005

International journal of dermatology, 2007, Vol.46 (8), p.809-814

2007

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Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

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

Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy

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

PLEC1 Mutations Underlie Adult-Onset Dilated Cardiomyopathy in Epidermolysis Bullosa Simplex with Muscular Dystrophy

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

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

Retrospective Diagnosis of Fatal BP180-Deficient Non-Herlitz Junctional Epidermolysis Bullosa Suggested by Immunofluorescence (IF) Antigen-Mapping of Parental Carriers Bearing Enamel Defects

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

Molecular Epidemiology of Hereditary Epidermolysis Bullosa in a Middle Eastern Population

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

Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005

Dystrophic Epidermolysis Bullosa with One Dominant and One Recessive Mutation of the COL7A1 Gene in a Child with Deafness

Pseudoxanthoma elasticum: genetic diagnostic markers

Plectin Gene Mutations Can Cause Epidermolysis Bullosa with Pyloric Atresia

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 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

Psychosocial aspects of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005

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

Epidermolysis Bullosa Carrier Frequencies in the US Population

What Syndrome Is This?

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

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

Psychosocial aspects of epidermolysis bullosa : Proceedings of the lind International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005

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