Found: 53
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Heparan sulphate proteoglycan and wound healing in skin.
- Published in:
- Journal of Pathology, 1997, v. 183, n. 3, p. 251, doi. 10.1002/(SICI)1096-9896(199711)183:3<251::AID-PATH969>3.0.CO;2-H
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- Publication type:
- Article
A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis.
- Published in:
- Prenatal Diagnosis, 2001, v. 21, n. 6, p. 490, doi. 10.1002/pd.109
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- Publication type:
- Article
Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 13, p. 1055, doi. 10.1002/1097-0223(200012)20:13<1055::AID-PD978>3.0.CO;2-#
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- Publication type:
- Article
Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one family.
- Published in:
- 1995
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- Publication type:
- journal article
Desmosomes exhibit site-specific features in human palm skin.
- Published in:
- Experimental Dermatology, 2003, v. 12, n. 4, p. 378, doi. 10.1034/j.1600-0625.2002.120404.x
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- Publication type:
- Article
Poikiloderma vasculare atrophicans with vasculitis.
- Published in:
- Clinical & Experimental Dermatology, 1977, v. 2, n. 2, p. 171, doi. 10.1111/j.1365-2230.1977.tb01562.x
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- Publication type:
- Article
Reflections on a revolutionary era.
- Published in:
- 2013
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- Publication type:
- Journal Article
Reflections on a revolutionary era.
- Published in:
- Journal of Renal Nursing, 2013, v. 5, n. 5, p. 252, doi. 10.12968/jorn.2013.5.5.252
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- Publication type:
- Article
Epidermolysis Bullosa: To Split and to Clump.
- Published in:
- Pediatric Dermatology, 1992, v. 9, n. 4, p. 361, doi. 10.1111/j.1525-1470.1992.tb00631.x
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- Publication type:
- Article
Discovery of Basement Membrane Zone Ultrastructural Entities by Electron Microscopy.
- Published in:
- Journal of Investigative Dermatology, 2008, v. 128, p. E1, doi. 10.1038/skinbio.6250011
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- Publication type:
- Article
Reduced Expression of Insulin-Like Growth Factor-Binding Protein-3 (IGFBP-3) in Squamous Cell Carcinoma Complicating Recessive Dystrophic Epidermolysis Bullosa.
- Published in:
- Journal of Investigative Dermatology, 2004, v. 122, n. 5, p. 1302, doi. 10.1111/j.0022-202X.2004.22525.x
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- Publication type:
- Article
Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 118, n. 2, p. 232, doi. 10.1046/j.0022-202x.2001.01664.x
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- Publication type:
- Article
Sequential Reorganization of Cornified Cell Keratin Filaments Involving Filaggrin-Mediated Compaction and Keratin 1 Deimination.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 118, n. 2, p. 282, doi. 10.1046/j.0022-202x.2001.01671.x
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- Publication type:
- Article
Mutant Loricrin is Not Crosslinked into the Cornified Cell Envelope but is Translocated into the Nucleus in Loricrin Keratoderma.
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- Journal of Investigative Dermatology, 2000, v. 115, n. 6, p. 1088, doi. 10.1046/j.1523-1747.2000.00163.x
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- Publication type:
- Article
The Gene for Naegeli–Franceschetti–Jadassohn Syndrome Maps to 17q21.
- Published in:
- Journal of Investigative Dermatology, 2000, v. 115, n. 4, p. 694, doi. 10.1046/j.1523-1747.2000.00097.x
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- Publication type:
- Article
Genomic Amplification of the Human Plakophilin 1 Gene and Detection of a New Mutation in Ectodermal Dysplasia/Skin Fragility Syndrome.
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- Journal of Investigative Dermatology, 2000, v. 115, n. 3, p. 368, doi. 10.1046/j.1523-1747.2000.00082.x
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- Publication type:
- Article
Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency.
- Published in:
- Journal of Investigative Dermatology, 1999, v. 113, n. 6, p. 940, doi. 10.1046/j.1523-1747.1999.00783.x
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- Publication type:
- Article
Identification of a Novel Mutation R42P in the Gap Junction Protein β-3 Associated with Autosomal Dominant Erythrokeratoderma Variabilis.
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- Journal of Investigative Dermatology, 1999, v. 113, n. 6, p. 1119, doi. 10.1046/j.1523-1747.1999.00792.x
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- Publication type:
- Article
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.
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- Journal of Investigative Dermatology, 1999, v. 113, n. 4, p. 673, doi. 10.1046/j.1523-1747.1999.00732.x
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- Publication type:
- Article
Moderation of Phenotypic Severity in Dystrophic and Junctional Forms of Epidermolysis Bullosa Through In-Frame Skipping of Exons Containing Non-Sense or Frameshift Mutations.
- Published in:
- Journal of Investigative Dermatology, 1999, v. 113, n. 3, p. 314, doi. 10.1046/j.1523-1747.1999.00709.x
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- Publication type:
- Article
Allelic Heterogeneity of Dominant and Recessive COL7A1 Mutations Underlying Epidermolysis Bullosa Pruriginosa.
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- Journal of Investigative Dermatology, 1999, v. 112, n. 6, p. 984, doi. 10.1046/j.1523-1747.1999.00614.x
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- Publication type:
- Article
Severe Palmo‐Plantar Hyperkeratosis in Dowling–Meara Epidermolysis Bullosa Simplex Caused by a Mutation in the Keratin 14 Gene (KRT14).
- Published in:
- Journal of Investigative Dermatology, 1998, v. 111, n. 5, p. 893, doi. 10.1046/j.1523-1747.1998.00388.x
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- Publication type:
- Article
Hemidesmosomes Show Abnormal Association with the Keratin Filament Network in Junctional Forms of Epidermolysis Bullosa.
- Published in:
- Journal of Investigative Dermatology, 1998, v. 110, n. 2, p. 132, doi. 10.1046/j.1523-1747.1998.00102.x
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- Publication type:
- Article
Loricrin Mutation in Vohwinkel's Keratoderma Is Unique to the Variant with Ichthyosis.
- Published in:
- Journal of Investigative Dermatology, 1997, v. 109, n. 4, p. 604, doi. 10.1111/1523-1747.ep12337534
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- Publication type:
- Article
Recurrent Mutations in the Type VII Collagen Gene (COL7A1) in Patients with Recessive Dystrophic Epidermolysis Bullosa.
- Published in:
- Journal of Investigative Dermatology, 1997, v. 109, n. 2, p. 246, doi. 10.1111/1523-1747.ep12319792
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- Publication type:
- Article
Bullous Pemphigoid and Cicatricial Pemphigoid Autoantibodies React with Ultrastructurally Separable Epitopes on the BP180 Ectodomain: Evidence that BP180 Spans the Lamina Lucida.
- Published in:
- Journal of Investigative Dermatology, 1997, v. 108, n. 6, p. 901, doi. 10.1111/1523-1747.ep12292701
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- Publication type:
- Article
Clinicopathological Correlations of Compound Heterozygous COL7A1 Mutations in Recessive Dystrophic Epidermolysis Bullosa.
- Published in:
- Journal of Investigative Dermatology, 1996, v. 107, n. 2, p. 171, doi. 10.1111/1523-1747.ep12329570
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- Publication type:
- Article
Altered Laminin 5 Expression Due to Mutations in the Gene Encoding the β3 Chain (LAMB3) in Generalized Atrophic Benign Epidermolysis Bullosa.
- Published in:
- Journal of Investigative Dermatology, 1995, v. 104, n. 4, p. 467, doi. 10.1111/1523-1747.ep12605904
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- Publication type:
- Article
Ultrastructural Changes Resulting from Keratin-9 Gene Mutations in Two Families with Epidermolytic Palmoplantar Keratoderma.
- Published in:
- Journal of Investigative Dermatology, 1995, v. 104, n. 3, p. 425, doi. 10.1111/1523-1747.ep12666011
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- Publication type:
- Article
Ultrastructural Clues to Genetic Disorders of Skin: The Dermal-Epidermal Junction.
- Published in:
- Journal of Investigative Dermatology, 1994, v. 103, p. 13S, doi. 10.1038/jid.1994.4
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- Publication type:
- Article
Ichthyosis Bullosa of Siemens--A Disease Involving Keratin 2e.
- Published in:
- 1994
- By:
- Publication type:
- Report
Mutations in the Rod 1A Domain of Keratins 1 and 10 in Bullous Congenital Ichthyosiform Erythoderma (BCIE).
- Published in:
- Journal of Investigative Dermatology, 1994, v. 102, n. 1, p. 24, doi. 10.1111/1523-1747.ep12371726
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- Publication type:
- Article
Nicein (BM-600) in Junctional Epidermolysis Bullosa: Polyclonal Antibodies Provide New Clues for Pathogenic Role.
- Published in:
- Journal of Investigative Dermatology, 1993, v. 101, n. 5, p. 738, doi. 10.1111/1523-1747.ep12371685
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- Publication type:
- Article
Structural Variations in Anchoring Fibrils in Dystrophic Epidermolysis Bullosa: Correlation with Type VII Collagen Expression.
- Published in:
- Journal of Investigative Dermatology, 1993, v. 100, n. 4, p. 366, doi. 10.1111/1523-1747.ep12471830
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- Publication type:
- Article
Selective Involvement of Keratins K1 and K10 in the Cytoskeletal Abnormality of Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma).
- Published in:
- Journal of Investigative Dermatology, 1992, v. 99, n. 1, p. 19, doi. 10.1111/1523-1747.ep12611391
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- Publication type:
- Article
Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14.
- Published in:
- 1991
- By:
- Publication type:
- Report
Production of Rabbit Antibodies Against Carboxy-Terminal Epitopes Encoded by Bullous Pemphigoid cDNA.
- Published in:
- Journal of Investigative Dermatology, 1990, v. 94, n. 5, p. 617, doi. 10.1111/1523-1747.ep12876200
- By:
- Publication type:
- Article
Prenatal Diagnosis of Dominant and Recessive Dystrophic Epidermolysis Bullosa: Application and Limitations in the Use of KF-1 and LH 7:2 Monoclonal Antibodies and Immunofluorescence Mapping Technique.
- Published in:
- Journal of Investigative Dermatology, 1988, v. 91, n. 5, p. 465, doi. 10.1111/1523-1747.ep12476604
- By:
- Publication type:
- Article
Type VII Collagen is a Normal Component of Epidermal Basement Membrane, Which Shows Altered Expression in Recessive Dystrophic Epidermolysis Bullosa.
- Published in:
- Journal of Investigative Dermatology, 1988, v. 90, n. 5, p. 639, doi. 10.1111/1523-1747.ep12560795
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- Publication type:
- Article
Rapid Prenatal Diagnosis and Exclusion of Epidermolysis Bullosa Using Novel Antibody Probes.
- Published in:
- Journal of Investigative Dermatology, 1986, v. 86, n. 5, p. 603, doi. 10.1111/1523-1747.ep12355579
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- Publication type:
- Article
Hemidesmosome Heterogeneity in Junctional Epidermolysis Bullosa Revealed by Morphometric Analysis.
- Published in:
- Journal of Investigative Dermatology, 1986, v. 86, n. 1, p. 51, doi. 10.1111/1523-1747.ep12283807
- By:
- Publication type:
- Article
Evaluation of Anchoring Fibrils and Other Components of the Dermal-Epidermal Junction in Dystrophic Epidermolysis Bullosa by a Quantitative Ultrastructural Technique.
- Published in:
- Journal of Investigative Dermatology, 1985, v. 84, n. 5, p. 374, doi. 10.1111/1523-1747.ep12265460
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- Publication type:
- Article
Ultrastructural Morphometry of Normal Human Dermal-Epidermal Junction. The Influence of Age, Sex, and Body Region on Laminar and Nonlaminar Components.
- Published in:
- Journal of Investigative Dermatology, 1984, v. 83, n. 6, p. 448, doi. 10.1111/1523-1747.ep12273562
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- Publication type:
- Article
Prenatal Diagnosis of Oculocutaneous Albinism by Electron Microscopy of Fetal Skin.
- Published in:
- Journal of Investigative Dermatology, 1983, v. 80, n. 3, p. 210, doi. 10.1111/1523-1747.ep12534349
- By:
- Publication type:
- Article
A Microscopic Study of Inflammatory Reactions in Human Skin Induced by Histamine and Compound 48/80.
- Published in:
- Journal of Investigative Dermatology, 1982, v. 78, n. 5, p. 406, doi. 10.1111/1523-1747.ep12507592
- By:
- Publication type:
- Article
An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 3, p. 365
- By:
- Publication type:
- Article
An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2395, doi. 10.1093/hmg/ddg234
- By:
- Publication type:
- Article
Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex.
- Published in:
- Human Mutation, 1998, v. 11, n. 4, p. 279, doi. 10.1002/(SICI)1098-1004(1998)11:4<279::AID-HUMU5>3.0.CO;2-E
- By:
- Publication type:
- Article
N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 6, p. 971, doi. 10.1093/hmg/8.6.971
- By:
- Publication type:
- Article
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 1, p. 143, doi. 10.1093/hmg/8.1.143
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- Publication type:
- Article