Thomas Jefferson University

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Mcgrath, John
One or more keywords matched the following items that are connected to Mcgrath, John
Item TypeName
Concept Genes, Dominant
Academic Article Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
Academic Article Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis.
Academic Article Human hair abnormalities resulting from inherited desmosome gene mutations.
Academic Article Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.
Academic Article Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR.
Academic Article A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease.
Academic Article Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait.
Academic Article Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
Academic Article Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic?Ichthyosis.
Academic Article The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21.
Academic Article Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.
Academic Article The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.
Academic Article Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1.
Academic Article Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa.
Academic Article Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.
Academic Article New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.
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  • Genes Dominant