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 Phenotype
Academic Article Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.
Academic Article Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.
Academic Article Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
Academic Article Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation.
Academic Article Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.
Academic Article Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.
Academic Article Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.
Academic Article Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies.
Academic Article Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.
Academic Article Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.
Academic Article Human hair abnormalities resulting from inherited desmosome gene mutations.
Academic Article Common IL-31 gene haplotype associated with non-atopic eczema is not implicated in epidermolysis bullosa pruriginosa.
Academic Article New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter.
Academic Article Novel and recurrent FERMT1 gene mutations in Kindler syndrome.
Academic Article Cytoplasmic plaque formation in hemidesmosome development is dependent on SoxF transcription factor function.
Academic Article Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.
Academic Article Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.
Academic Article Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis.
Academic Article Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.
Academic Article Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations.
Academic Article Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.
Academic Article Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome.
Academic Article The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
Academic Article Inherited disorders of desmosomes.
Academic Article Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation.
Academic Article Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women.
Academic Article Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.
Academic Article Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.
Academic Article Intra-familial variability of ectodermal defects associated with WNT10A mutations.
Academic Article Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa.
Academic Article A Th2 cytokine interleukin-31 signature in a case of sporadic lichen amyloidosis.
Academic Article The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
Academic Article The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.
Academic Article Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
Academic Article Detection of SNP-SNP interactions in trios of parents with schizophrenic children.
Academic Article Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype.
Academic Article Keratin 9 is required for the structural integrity and terminal differentiation of the palmoplantar epidermis.
Academic Article Transethnic associations among immune-mediated diseases and single-nucleotide polymorphisms of the aryl hydrocarbon response gene ARNT and the PTPN22 immune regulatory gene.
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