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875 results

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Page 1
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J. Richard G, et al. J Invest Dermatol. 2003 Apr;120(4):601-9. doi: 10.1046/j.1523-1747.2003.12080.x. J Invest Dermatol. 2003. PMID: 12648223 Free article.
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 Free article.
Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24.
Richard G, Korge BP, Wright AR, Mazzanti C, Harth W, Annicchiarico-Petruzzelli M, Compton JG, Bale SJ. Richard G, et al. J Invest Dermatol. 1995 Sep;105(3):357-60. doi: 10.1111/1523-1747.ep12320741. J Invest Dermatol. 1995. PMID: 7665912 Free article.
Fine mapping of the Darier's disease locus on chromosome 12q.
Richard G, Wright AR, Harris S, Doyle SZ, Korge B, Mazzanti C, Tanaka T, Harth W, McBride OW, Compton JG, Bale SJ, DiGiovanna JJ. Richard G, et al. J Invest Dermatol. 1994 Nov;103(5):665-8. doi: 10.1111/1523-1747.ep12398429. J Invest Dermatol. 1994. PMID: 7963653 Free article.
Evidence for genetic heterogeneity in monilethrix.
Richard G, Itin P, Lin JP, Bon A, Bale SJ. Richard G, et al. J Invest Dermatol. 1996 Dec;107(6):812-4. doi: 10.1111/1523-1747.ep12330568. J Invest Dermatol. 1996. PMID: 8941666 Free article.
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
Lugassy J, McGrath JA, Itin P, Shemer R, Verbov J, Murphy HR, Ishida-Yamamoto A, Digiovanna JJ, Bercovich D, Karin N, Vitenshtein A, Uitto J, Bergman R, Richard G, Sprecher E. Lugassy J, et al. Among authors: richard g. J Invest Dermatol. 2008 Jun;128(6):1517-24. doi: 10.1038/sj.jid.5701187. Epub 2007 Nov 29. J Invest Dermatol. 2008. PMID: 18049449 Free article.
875 results