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Page 1
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
Solomon BD, Lacbawan F, Mercier S, Clegg NJ, Delgado MR, Rosenbaum K, Dubourg C, David V, Olney AH, Wehner LE, Hehr U, Bale S, Paulussen A, Smeets HJ, Hardisty E, Tylki-Szymanska A, Pronicka E, Clemens M, McPherson E, Hennekam RC, Hahn J, Stashinko E, Levey E, Wieczorek D, Roeder E, Schell-Apacik CC, Booth CW, Thomas RL, Kenwrick S, Cummings DA, Bous SM, Keaton A, Balog JZ, Hadley D, Zhou N, Long R, Vélez JI, Pineda-Alvarez DE, Odent S, Roessler E, Muenke M. Solomon BD, et al. J Med Genet. 2010 Aug;47(8):513-24. doi: 10.1136/jmg.2009.073049. Epub 2009 Dec 2. J Med Genet. 2010. PMID: 19955556 Free PMC article.
Management of children with holoprosencephaly.
Levey EB, Stashinko E, Clegg NJ, Delgado MR. Levey EB, et al. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):183-90. doi: 10.1002/ajmg.c.30254. Am J Med Genet C Semin Med Genet. 2010. PMID: 20104615 Review.
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.
Weiss K, Kruszka P, Guillen Sacoto MJ, Addissie YA, Hadley DW, Hadsall CK, Stokes B, Hu P, Roessler E, Solomon B, Wiggs E, Thurm A, Hufnagel RB, Zein WM, Hahn JS, Stashinko E, Levey E, Baldwin D, Clegg NJ, Delgado MR, Muenke M. Weiss K, et al. Genet Med. 2018 Jan;20(1):14-23. doi: 10.1038/gim.2017.68. Epub 2017 Jun 22. Genet Med. 2018. PMID: 28640243 Free PMC article.
Parental perspectives on living with a child with HoPE.
Stashinko EE, Harley LA, Steele RA, Clegg NJ. Stashinko EE, et al. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):197-201. doi: 10.1002/ajmg.c.30237. Am J Med Genet C Semin Med Genet. 2010. PMID: 20104617 Review.
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.
Sensory and motor deficits in children with cerebral palsy born preterm correlate with diffusion tensor imaging abnormalities in thalamocortical pathways.
Hoon AH Jr, Stashinko EE, Nagae LM, Lin DD, Keller J, Bastian A, Campbell ML, Levey E, Mori S, Johnston MV. Hoon AH Jr, et al. Among authors: stashinko ee. Dev Med Child Neurol. 2009 Sep;51(9):697-704. doi: 10.1111/j.1469-8749.2009.03306.x. Epub 2009 Mar 30. Dev Med Child Neurol. 2009. PMID: 19416315 Free PMC article.
32 results