141 results on '"Munro, Colin S."'
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2. Diseases of the Epidermis and Appendages, Skin Pigmentation, and Skin Cancer
3. The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr (ital) gene by cDNA and genomic sequencing
4. Molecular genetics of the skin: the implications of understanding
5. Refined genetic mapping of the Darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region
6. Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in Desmoplakin
7. Two families with Greitherʼs syndrome caused by a keratin 1 mutation
8. The Genetic Basis of Pachyonychia Congenita
9. Clinical and Pathological Features of Pachyonychia Congenita
10. Hailey—Hailey Disease: Identification of Novel Mutations in ATP2C1 and Effect of Missense Mutation A528P on Protein Expression Levels
11. An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome
12. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)
13. Hailey−Hailey Disease: Molecular and Clinical Characterization of Novel Mutations in the ATP2C1 Gene
14. Novel and Recurrent Mutations in the Genes Encoding Keratins K6a, K16 and K17 in 13 Cases of Pachyonychia Congenita
15. Mutant Loricrin is Not Crosslinked into the Cornified Cell Envelope but is Translocated into the Nucleus in Loricrin Keratoderma
16. Fine genetic mapping of diffuse NEPPK: exclusion of the known type II keratins
17. Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
18. Mutations in Keratin K9 in Kindreds with Epidermolytic Palmoplantar Keratoderma and Epidemiology in Northern Ireland
19. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
20. Nail and Scalp Lesions in a Man With Diabetes Insipidus
21. Epidermal mosaicism producing localised acne: somatic mutation in FGFR2
22. ACNEIFORM EPIDERMAL NAEVUS DUE TO MUTATION IN FIBROBLAST GROWTH FACTOR RECEPTOR 2 (FGFR2)
23. Loricrin Mutation in Vohwinkel's Keratoderma Is Unique to the Variant with Ichthyosis
24. Missense Mutations in Keratin 17 Cause Either Pachyonychia Congenita Type 2 or a Phenotype Resembling Steatocystoma Multiplex
25. The Gene for Hypotrichosis of Marie Unna Maps between D8S258 and D8S298: Exclusion of the hr Gene by cDNA and Genomic Sequencing
26. Inherited Acantholytic Disorders
27. Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma
28. Mutations in the AAGAB gene, encoding alpha- and gamma-adaptin binding protein p34, cause punctate palmoplantar keratoderma type 1
29. NovelATP2A2mutations in a large sample of individuals with Darier disease
30. Acne
31. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma
32. Mutations in the SASPase Gene (ASPRV1) Are Not Associated with Atopic Eczema or Clinically Dry Skin
33. Filaggrin Null Mutations Are Not a Protective Factor for Acne Vulgaris
34. Erratum: Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
35. Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly
36. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
37. Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema
38. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
39. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
40. Hailey-Hailey Disease: Molecular and Clinical Characterization of Novel Mutations in the ATP2C1 Gene
41. trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation
42. Erratum: Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
43. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
44. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
45. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
46. Population prevalence and mutation detection in epidermolytic palmoplantar keratoderma
47. A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
48. Linkage Analyses in British Pedigrees Suggest a Single Locus for Darier Disease and Narrow the Location to the Interval between D12S105 and D12S129
49. Localisation of a gene for Darier's disease
50. Occupational contact dermatitis from triglycidyl isocyanurate in a powder paint factory
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