Found: 22
Select item for more details and to access through your institution.
A Site-Specific Plectin Mutation Causes Dominant Epidermolysis Bullosa Simplex Ogna: Two Identical De Novo Mutations.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 118, n. 1, p. 87, doi. 10.1046/j.0022-202x.2001.01591.x
- By:
- Publication type:
- Article
Sjörgen-Larsson-Syndrom.
- Published in:
- Der Hautarzt, 2000, v. 51, n. 4, p. 250, doi. 10.1007/s001050051113
- By:
- Publication type:
- Article
A Premature Stop Codon Mutation in the 2B Helix Termination Peptide of Keratin 5 in a German Epidermolysis Bullosa Simplex Dowling–Meara Case.
- Published in:
- Journal of Investigative Dermatology, 1999, v. 112, n. 6, p. 988, doi. 10.1046/j.1523-1747.1999.00615.x
- By:
- Publication type:
- Article
A Novel Substitution in Keratin 10 in Epidermolytic Hyperkeratosis.
- Published in:
- Journal of Investigative Dermatology, 1999, v. 112, n. 4, p. 506, doi. 10.1046/j.1523-1747.1999.00557.x
- By:
- Publication type:
- Article
Identification of Novel and Known Mutations in the Genes for Keratin 5 and 14 in Danish Patients with Epidermolysis Bullosa Simplex: Correlation Between Genotype and Phenotype.
- Published in:
- Journal of Investigative Dermatology, 1999, v. 112, n. 2, p. 184, doi. 10.1046/j.1523-1747.1999.00495.x
- By:
- Publication type:
- Article
Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.
- Published in:
- Human Mutation, 1998, v. 12, n. 6, p. 377, doi. 10.1002/(SICI)1098-1004(1998)12:6<377::AID-HUMU3>3.0.CO;2-I
- By:
- Publication type:
- Article
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 589, doi. 10.1038/sj.ejhg.5200224
- By:
- Publication type:
- Article
Ultrastructural connective tissue abnormalities in patients with spontaneous cervicocerebral artery dissections.
- Published in:
- Annals of Neurology, 1998, v. 44, n. 2, p. 281, doi. 10.1002/ana.410440224
- By:
- Publication type:
- Article
Comèl-Netherton-Syndrom.
- Published in:
- Der Hautarzt, 1998, v. 49, n. 6, p. 499, doi. 10.1007/s001050050778
- By:
- Publication type:
- Article
A Combination of a Common Splice Site Mutation and Frameshift Mutation in the COL7A1 Gene: Absence of Functional Collagen VII in Keratinocytes and Skin.
- Published in:
- 1997
- By:
- Publication type:
- Report
Modulation of Disease Severity of Dystrophic Epidermolysis Bullosa By a Splice Site Mutation in Combination with a Missense Mutation in the COL7A1 Gene.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 7, p. 1125, doi. 10.1093/hmg/6.7.1125
- By:
- Publication type:
- Article
Zunich Neuroectodermal Syndrome: Migratory Ichthyosiform Dermatosis, Colobomas, and Other Abnormalities.
- Published in:
- Pediatric Dermatology, 1996, v. 13, n. 5, p. 363, doi. 10.1111/j.1525-1470.1996.tb00702.x
- By:
- Publication type:
- Article
Severe Congenital Generalized Exfoliative Erythroderma in Newborns and Infants: A Possible Sign of Netherton Syndrome.
- Published in:
- Pediatric Dermatology, 1996, v. 13, n. 3, p. 183, doi. 10.1111/j.1525-1470.1996.tb01202.x
- By:
- Publication type:
- Article
Ultrastructural Identification of Basic Abnormalities as Clues to Genetic Disorders of the Epidermis.
- Published in:
- Journal of Investigative Dermatology, 1994, v. 103, p. 6S, doi. 10.1038/jid.1994.3
- By:
- Publication type:
- Article
Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1387
- By:
- Publication type:
- Article
A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 12, p. 2147
- By:
- Publication type:
- Article
Anchoring Fibrils, Collagen VII, and Neutral Metalloproteases in Recessive Dystrophic Epidermolysis Bullosa Inversa.
- Published in:
- Journal of Investigative Dermatology, 1992, v. 99, n. 5, p. 550, doi. 10.1111/1523-1747.ep12667372
- By:
- Publication type:
- Article
Applicability of 19-DEJ-l monoclonal antibody for the prenatal diagnosis or exclusion of junctional epidermolysis bullosa.
- Published in:
- Prenatal Diagnosis, 1990, v. 10, n. 4, p. 219, doi. 10.1002/pd.1970100403
- By:
- Publication type:
- Article
Ultrastructure of first trimester chorionic villi with regard to the prenatal diagnosis of genodermatoses.
- Published in:
- 1988
- By:
- Publication type:
- journal article
Genetically Induced Abnormalities of Epidermal Differentiation and Ultrastructure in Ichthyoses and Epidermolyses: Pathogenesis, heterogeneity, Fetal Manifestation, and Prenatal Diagnosis.
- Published in:
- Journal of Investigative Dermatology, 1983, v. 81, p. 149s, doi. 10.1111/1523-1747.ep12540961
- By:
- Publication type:
- Article
Richner-Hanhart's Syndrome: Ultrastructural Abnormalities of Epidermal Keratinization Indicating a Causal Relationship to High Intracellular Tyrosine Levels.
- Published in:
- Journal of Investigative Dermatology, 1982, v. 79, n. 2, p. 68, doi. 10.1111/1523-1747.ep12500027
- By:
- Publication type:
- Article
Ultrastructure of Blister Formation in Epidermolysis Bullosa Hereditaria: V. Epidermolysis Bullosa Simplex Localisata Type Weber-Cockayne.
- Published in:
- Journal of Investigative Dermatology, 1982, v. 78, n. 3, p. 219, doi. 10.1111/1523-1747.ep12506502
- By:
- Publication type:
- Article