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Page 1
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaître G, Hand C, Hayflick SJ, Zonana J, Antonarakis S, Radhakrishna U, Kelsell DP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, Blanchet-Bardon C, Rouleau GA, Waksman G. Lamartine J, et al. Among authors: kibar z. Nat Genet. 2000 Oct;26(2):142-4. doi: 10.1038/79851. Nat Genet. 2000. PMID: 11017065 No abstract available.
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.
Kibar Z, Dubé MP, Powell J, McCuaïg C, Hayflick SJ, Zonana J, Hovnanian A, Radhakrishna U, Antonarakis SE, Benohanian A, Sheeran AD, Stephan ML, Gosselin R, Kelsell DP, Christianson AL, Fraser FC, Der Kaloustian VM, Rouleau GA. Kibar Z, et al. Eur J Hum Genet. 2000 May;8(5):372-80. doi: 10.1038/sj.ejhg.5200471. Eur J Hum Genet. 2000. PMID: 10854098
Connexin46 mutations in autosomal dominant congenital cataract.
Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S. Mackay D, et al. Among authors: kibar z. Am J Hum Genet. 1999 May;64(5):1357-64. doi: 10.1086/302383. Am J Hum Genet. 1999. PMID: 10205266 Free PMC article.
Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3.
Lafrenière RG, Kibar Z, Rochefort DL, Han FY, Fon EA, Dubé MP, Kang X, Baird S, Korneluk RG, Rommens JM, Rouleau GA. Lafrenière RG, et al. Among authors: kibar z. Gene. 1997 Oct 1;198(1-2):313-21. doi: 10.1016/s0378-1119(97)00333-8. Gene. 1997. PMID: 9370297
59 results