Registry for Inherited Disorders of Keratinization

Fleckman, Philip H.

Abstract

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
• Type: Research and Development Contracts (N01)
• Project #: N01AR042216-007
• Application #: 6358791
• Project Start: 1994-09-30
• Project End: 2000-10-31
• Budget Start: 2000-09-25
• Budget End: 2000-10-31
• Fiscal Year: 2000
• Total Cost: $18,000

Institution

• Name: University of Washington
• Department: Internal Medicine/Medicine
• Type: Schools of Medicine
• DUNS #: 135646524
• City: Seattle
• State: WA
• Country: United States
• Zip Code: 98195

Publications

Yang, Catherine S; Pomerantz, Hyemin; Mannava, Kathleen A et al. (2016) Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: A report from the National Registry for Ichthyosis and Related Skin Disorders. J Am Acad Dermatol 74:1008-10.e2

Farasat, S; Wei, M-H; Herman, M et al. (2009) Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet 46:103-11

Ross, Rustin; DiGiovanna, John J; Capaldi, Laura et al. (2008) Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. J Am Acad Dermatol 59:86-90

Mayes, M D; Giannini, E H; Pachman, L M et al. (1997) Connective tissue disease registries. Arthritis Rheum 40:1556-9