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Connexin gene pathology.
Richard G. Richard G. Clin Exp Dermatol. 2003 Jul;28(4):397-409. doi: 10.1046/j.1365-2230.2003.01312.x. Clin Exp Dermatol. 2003. PMID: 12823303 Review. No abstract available.
Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix.
Sprecher E, Ishida-Yamamoto A, Becker OM, Marekov L, Miller CJ, Steinert PM, Neldner K, Richard G. Sprecher E, et al. Among authors: richard g. J Invest Dermatol. 2001 Apr;116(4):511-9. doi: 10.1046/j.1523-1747.2001.01292.x. J Invest Dermatol. 2001. PMID: 11286616
Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome.
Sprecher E, Tesfaye-Kedjela A, Ratajczak P, Bergman R, Richard G. Sprecher E, et al. Among authors: richard g. Clin Exp Dermatol. 2004 Sep;29(5):513-7. doi: 10.1111/j.1365-2230.2004.01589.x. Clin Exp Dermatol. 2004. PMID: 15347338
A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.
Morley SM, White MI, Rogers M, Wasserman D, Ratajczak P, McLean WH, Richard G. Morley SM, et al. Among authors: richard g. Br J Dermatol. 2005 Jun;152(6):1143-8. doi: 10.1111/j.1365-2133.2005.06610.x. Br J Dermatol. 2005. PMID: 15948974
A novel homozygous nonsense deletion/insertion mutation in the keratin 14 gene (Y248X; 744delC/insAG) causes recessive epidermolysis bullosa simplex type Köbner.
Lanschuetzer CM, Klausegger A, Pohla-Gubo G, Hametner R, Richard G, Uitto J, Hintner H, Bauer JW. Lanschuetzer CM, et al. Among authors: richard g. Clin Exp Dermatol. 2003 Jan;28(1):77-9. doi: 10.1046/j.1365-2230.2003.01218.x. Clin Exp Dermatol. 2003. PMID: 12558637
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.
Rouan F, Pulkkinen L, Meneguzzi G, Laforgia S, Hyde P, Kim DU, Richard G, Uitto J. Rouan F, et al. Among authors: richard g. J Invest Dermatol. 2000 Feb;114(2):381-7. doi: 10.1046/j.1523-1747.2000.00880.x. J Invest Dermatol. 2000. PMID: 10652002
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.
Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, Silverman R, Esterly NB, Spraker MK, Guelig E, de Luna ML, Williams ML, Buehler B, Siegfried EC, Van Maldergem L, Pfendner E, Bale SJ, Uitto J, Hovnanian A, Richard G. Sprecher E, et al. Among authors: richard g. J Invest Dermatol. 2001 Aug;117(2):179-87. doi: 10.1046/j.1523-1747.2001.01389.x. J Invest Dermatol. 2001. PMID: 11511292
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM. Kelsell DP, et al. Among authors: richard g. Eur J Hum Genet. 2000 Jun;8(6):469-72. doi: 10.1038/sj.ejhg.5200510. Eur J Hum Genet. 2000. PMID: 10888284
Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro.
Rouan F, Lo CW, Fertala A, Wahl M, Jost M, Rodeck U, Uitto J, Richard G. Rouan F, et al. Among authors: richard g. Exp Dermatol. 2003 Apr;12(2):191-7. doi: 10.1034/j.1600-0625.2003.120210.x. Exp Dermatol. 2003. PMID: 12702148
Human connexin disorders of the skin.
Richard G. Richard G. Cell Commun Adhes. 2001;8(4-6):401-7. doi: 10.3109/15419060109080761. Cell Commun Adhes. 2001. PMID: 12064626 Review. No abstract available.
776 results
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