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 Chromosomes, Human, Pair 1
Concept Chromosomes, Human, Pair 11
Concept Chromosomes, Human, Pair 12
Concept Chromosomes, Human, Pair 16
Concept Chromosomes, Human, Pair 17
Concept Chromosomes, Human, Pair 18
Concept Chromosomes, Human, Pair 20
Concept Chromosomes, Human, Pair 3
Concept Chromosomes, Human, Pair 5
Academic Article Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.
Academic Article Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
Academic Article Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.
Academic Article Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis.
Academic Article Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.
Academic Article An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
Academic Article Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.
Academic Article Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.
Academic Article Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
Academic Article EMSY expression affects multiple components of the skin barrier with relevance to atopic dermatitis.
Academic Article Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
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  • Chromosomes Human