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Page 1
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Roessler E, El-Jaick KB, Dubourg C, Vélez JI, Solomon BD, Pineda-Alvarez DE, Lacbawan F, Zhou N, Ouspenskaia M, Paulussen A, Smeets HJ, Hehr U, Bendavid C, Bale S, Odent S, David V, Muenke M. Roessler E, et al. Hum Mutat. 2009 Oct;30(10):E921-35. doi: 10.1002/humu.21090. Hum Mutat. 2009. PMID: 19603532 Free PMC article.
Functional analysis of mutations in TGIF associated with holoprosencephaly.
El-Jaick KB, Powers SE, Bartholin L, Myers KR, Hahn J, Orioli IM, Ouspenskaia M, Lacbawan F, Roessler E, Wotton D, Muenke M. El-Jaick KB, et al. Mol Genet Metab. 2007 Jan;90(1):97-111. doi: 10.1016/j.ymgme.2006.07.011. Epub 2006 Sep 7. Mol Genet Metab. 2007. PMID: 16962354 Free PMC article. Review.
TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype.
Keaton AA, Solomon BD, Kauvar EF, El-Jaick KB, Gropman AL, Zafer Y, Meck JM, Bale SJ, Grange DK, Haddad BR, Gowans GC, Clegg NJ, Delgado MR, Hahn JS, Pineda-Alvarez DE, Lacbawan F, Vélez JI, Roessler E, Muenke M. Keaton AA, et al. Mol Syndromol. 2010;1(5):211-222. doi: 10.1159/000328203. Epub 2011 May 18. Mol Syndromol. 2010. PMID: 22125506 Free PMC article.
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstad PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Postra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M. Lacbawan F, et al. J Med Genet. 2009 Jun;46(6):389-98. doi: 10.1136/jmg.2008.063818. Epub 2009 Apr 2. J Med Genet. 2009. PMID: 19346217 Free PMC article.
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.
Jeong Y, Leskow FC, El-Jaick K, Roessler E, Muenke M, Yocum A, Dubourg C, Li X, Geng X, Oliver G, Epstein DJ. Jeong Y, et al. Nat Genet. 2008 Nov;40(11):1348-53. doi: 10.1038/ng.230. Epub 2008 Oct 5. Nat Genet. 2008. PMID: 18836447 Free PMC article.
SIX3 mutations with holoprosencephaly.
Ribeiro LA, El-Jaick KB, Muenke M, Richieri-Costa A. Ribeiro LA, et al. Am J Med Genet A. 2006 Dec 1;140(23):2577-83. doi: 10.1002/ajmg.a.31377. Am J Med Genet A. 2006. PMID: 17001667
Molecular analysis of holoprosencephaly in South America.
Savastano CP, El-Jaick KB, Costa-Lima MA, Abath CM, Bianca S, Cavalcanti DP, Félix TM, Scarano G, Llerena JC Jr, Vargas FR, Moreira MÂ, Seuánez HN, Castilla EE, Orioli IM. Savastano CP, et al. Among authors: el jaick kb. Genet Mol Biol. 2014 Mar;37(1 Suppl):250-62. doi: 10.1590/s1415-47572014000200011. Genet Mol Biol. 2014. PMID: 24764759 Free PMC article.
25 results