Found: 14
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Mutations in GJB6 cause hidrotic ectodermal dysplasia.
- Published in:
- Nature Genetics, 2000, v. 26, n. 2, p. 142, doi. 10.1038/79851
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- Publication type:
- Article
Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk.
- Published in:
- 2000
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- Publication type:
- journal article
Prenatal diagnosis of Herlitz junctional epidermolysis bullosa by amniocentesis.
- Published in:
- 1995
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- Publication type:
- journal article
Poikiloderma of Theresa Kindler: Report of a Case with Ultrastructural Study, and Review of the Literature.
- Published in:
- Pediatric Dermatology, 1989, v. 6, n. 2, p. 82, doi. 10.1111/j.1525-1470.1989.tb01003.x
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- Publication type:
- Article
Novel Point Mutations, Deletions, and Polymorphisms in the Cathepsin C Gene in Nine Families from Europe and North Africa with Papillon–Lefèvre Syndrome.
- Published in:
- Journal of Investigative Dermatology, 2001, v. 117, n. 6, p. 1657, doi. 10.1046/j.0022-202X.2001.01595.x
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- Publication type:
- Article
Predominance of the Recurrent Mutation R635X in the LAMB3 Gene in European Patients with Herlitz Junctional Epidermolysis Bullosa Has Implications for Mutation Detection Strategy.
- Published in:
- 1997
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- Publication type:
- Report
DNA-Based Prenatal Diagnosis of Generalized Recessive Dystrophic Epidermolysis Bullosa in Six Pregnancies at Risk for Recurrence.
- Published in:
- Journal of Investigative Dermatology, 1995, v. 104, n. 4, p. 456, doi. 10.1111/1523-1747.ep12605893
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- Publication type:
- Article
Clinical Observation, Virologic Studies, and Treatment Trials in Patients with Epidermodysplasia Verruciformis, a Disease Induced by Specific Human Papillomaviruses.
- Published in:
- Journal of Investigative Dermatology, 1984, v. 83, p. 18s, doi. 10.1038/jid.1984.15
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- Publication type:
- Article
Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred.
- Published in:
- British Journal of Dermatology, 1987, v. 117, n. 3, p. 363, doi. 10.1111/j.1365-2133.1987.tb04144.x
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- Publication type:
- Article
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 16, p. 1703, doi. 10.1093/hmg/ddh191
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- Publication type:
- Article
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2369, doi. 10.1093/hmg/ddg235
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- Publication type:
- Article
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) aremutated in non-bullous congenital ichthyosiform erythroderma (NCIE)linked to chromosome 17p13.1.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 1, p. 107, doi. 10.1093/hmg/11.1.107
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- Publication type:
- Article
Mapping of a Second Locus for Lamellar Ichthyosis to Chromosome 2q33–35.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 4, p. 555, doi. 10.1093/hmg/5.4.555
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- Publication type:
- Article
Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1391
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- Publication type:
- Article