Thomas Jefferson University

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Mclean, William
One or more keywords matched the following items that are connected to Mclean, William
Item TypeName
Concept Chromosome Banding
Concept Chromosome Mapping
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 2
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, Pair 9
Concept Physical Chromosome Mapping
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 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 Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
Academic Article Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene.
Academic Article The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21.
Academic Article The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases.
Academic Article A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.
Academic Article Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.
Academic Article A novel mutation in the keratin 13 gene causing oral white sponge nevus.
Academic Article Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects.
Academic Article Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract.
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 A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13.
Academic Article Association of skin barrier genes within the PSORS4 locus is enriched in Singaporean Chinese with early-onset psoriasis.
Academic Article Plectin deficiency results in muscular dystrophy with epidermolysis bullosa.
Academic Article Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations.
Academic Article Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens.
Academic Article cDNA cloning, mRNA expression, and chromosomal mapping of human and mouse periplakin genes.
Academic Article Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia.
Academic Article Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.
Academic Article Analysis of the desmoplakin gene reveals striking conservation with other members of the plakin family of cytolinkers.
Academic Article Human periplakin: genomic organization in a clonally unstable region of chromosome 16p with an abundance of repetitive sequence elements.
Academic Article The gene for Darier's disease maps between D12S78 and D12S79.
Academic Article Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.
Academic Article AvaII RFLP of human keratin 10 (KRT-10) detected by PCR.
Academic Article A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.
Academic Article Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia.
Academic Article A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
Academic Article Chromosome 11q13.5 variant: No association with atopic eczema in the Japanese population.
Academic Article The molecular genetics of the genodermatoses: progress to date and future directions.
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 Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.
Academic Article Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.
Academic Article Polymorphisms in the keratin 8 gene detected by PCR.
Search Criteria
  • Chromosomes Human Pair 8