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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2002 | 1 |
2003 | 1 |
2006 | 1 |
2009 | 2 |
2012 | 1 |
2024 | 0 |
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Page 1
OTX2 mutations contribute to the otocephaly-dysgnathia complex.
J Med Genet. 2012 Jun;49(6):373-9. doi: 10.1136/jmedgenet-2012-100892. Epub 2012 May 10.
J Med Genet. 2012.
PMID: 22577225
Tyrosine-dependent basolateral targeting of human connexin43-eYFP in Madin-Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V.
Chtchetinin J, Gifford WD, Li S, Paznekas WA, Jabs EW, Lai A.
Chtchetinin J, et al.
FEBS J. 2009 Dec;276(23):6992-7005. doi: 10.1111/j.1742-4658.2009.07407.x. Epub 2009 Oct 27.
FEBS J. 2009.
PMID: 19860828
Free PMC article.
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GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW.
Paznekas WA, et al.
Hum Mutat. 2009 May;30(5):724-33. doi: 10.1002/humu.20958.
Hum Mutat. 2009.
PMID: 19338053
Review.
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Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells.
Lai A, Le DN, Paznekas WA, Gifford WD, Jabs EW, Charles AC.
Lai A, et al.
J Cell Sci. 2006 Feb 1;119(Pt 3):532-41. doi: 10.1242/jcs.02770. Epub 2006 Jan 17.
J Cell Sci. 2006.
PMID: 16418219
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Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW.
Paznekas WA, et al.
Am J Hum Genet. 2003 Feb;72(2):408-18. doi: 10.1086/346090. Epub 2002 Nov 27.
Am J Hum Genet. 2003.
PMID: 12457340
Free PMC article.
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