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Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.
Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SY, Bodemer C, Prins C, Antille C, Saurat JH, Atherton D, Harper JI, Kelsell DP, Hovnanian A. Mazereeuw-Hautier J, et al. Among authors: hovnanian a. Br J Dermatol. 2007 May;156(5):1015-9. doi: 10.1111/j.1365-2133.2007.07806.x. Epub 2007 Mar 23. Br J Dermatol. 2007. PMID: 17381453 Review.
Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.
Chavanas S, Garner C, Bodemer C, Ali M, Teillac DH, Wilkinson J, Bonafé JL, Paradisi M, Kelsell DP, Ansai Si, Mitsuhashi Y, Larrègue M, Leigh IM, Harper JI, Taïeb A, Prost Yd, Cardon LR, Hovnanian A. Chavanas S, et al. Among authors: hovnanian a. Am J Hum Genet. 2000 Mar;66(3):914-21. doi: 10.1086/302824. Am J Hum Genet. 2000. PMID: 10712206 Free PMC article.
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
Bitoun E, Chavanas S, Irvine AD, Lonie L, Bodemer C, Paradisi M, Hamel-Teillac D, Ansai S, Mitsuhashi Y, Taïeb A, de Prost Y, Zambruno G, Harper JI, Hovnanian A. Bitoun E, et al. Among authors: hovnanian a. J Invest Dermatol. 2002 Feb;118(2):352-61. doi: 10.1046/j.1523-1747.2002.01603.x. J Invest Dermatol. 2002. PMID: 11841556 Free article.
LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome.
Bitoun E, Micheloni A, Lamant L, Bonnart C, Tartaglia-Polcini A, Cobbold C, Al Saati T, Mariotti F, Mazereeuw-Hautier J, Boralevi F, Hohl D, Harper J, Bodemer C, D'Alessio M, Hovnanian A. Bitoun E, et al. Among authors: hovnanian a. Hum Mol Genet. 2003 Oct 1;12(19):2417-30. doi: 10.1093/hmg/ddg247. Epub 2003 Jul 29. Hum Mol Genet. 2003. PMID: 12915442
Novel ABCC6 mutations in pseudoxanthoma elasticum.
Chassaing N, Martin L, Mazereeuw J, Barrié L, Nizard S, Bonafé JL, Calvas P, Hovnanian A. Chassaing N, et al. Among authors: hovnanian a. J Invest Dermatol. 2004 Mar;122(3):608-13. doi: 10.1111/j.0022-202X.2004.22312.x. J Invest Dermatol. 2004. PMID: 15086542 Free article.
297 results