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 Chromosome Aberrations
Concept Chromosome Deletion
Concept Chromosome Mapping
Concept Chromosomes
Concept Chromosomes, Human, Pair 1
Concept Chromosomes, Human, Pair 10
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
Concept Chromosomes, Human, Pair 6
Concept Chromosomes, Human, Pair 8
Concept Chromosomes, Human, 1-3
Concept Physical Chromosome Mapping
Concept Chromosome Disorders
Concept X Chromosome Inactivation
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 Strategies to identify disease genes.
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 Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Academic Article Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.
Academic Article Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.
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 Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder.
Academic Article Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
Academic Article The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope.
Academic Article Molecular basis of lipoid proteinosis in a Libyan family.
Academic Article The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21.
Academic Article Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.
Academic Article Searching for candidate genes in the new millennium.
Academic Article A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.
Academic Article Recurrent molecular abnormalities in type VII collagen in Southern Italian patients with recessive dystrophic epidermolysis bullosa.
Academic Article Alopecia universalis associated with a mutation in the human hairless gene.
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 Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5.
Academic Article Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.
Academic Article Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa.
Academic Article Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.
Academic Article PORCN gene mutations and the protean nature of focal dermal hypoplasia.
Academic Article Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria.
Academic Article Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in different clinical variants of acrodermatitis enteropathica.
Academic Article Corneodesmosin expression in psoriasis vulgaris differs from normal skin and other inflammatory skin disorders.
Academic Article Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3).
Academic Article Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa.
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  • Chromosomes