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Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M, Traversa A, Ciolfi A, Stabley D, Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza MT, Boitani C, Philip N, Niyazov D, Leoni C, Nakane T, Keppler-Noreuil K, Braddock SR, Gillessen-Kaesbach G, Palleschi A, Campeau PM, Lee BH, Pouponnot C, Stella L, Bocchinfuso G, Katsanis N, Sol-Church K, Tartaglia M. Niceta M, et al. Among authors: gripp kw. Am J Hum Genet. 2015 May 7;96(5):816-25. doi: 10.1016/j.ajhg.2015.03.001. Epub 2015 Apr 9. Am J Hum Genet. 2015. PMID: 25865493 Free PMC article.
Further delineation of Kabuki syndrome in 48 well-defined new individuals.
Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. Armstrong L, et al. Among authors: gripp kw. Am J Med Genet A. 2005 Jan 30;132A(3):265-72. doi: 10.1002/ajmg.a.30340. Am J Med Genet A. 2005. PMID: 15690370
Craniosynostosis: another feature of the 22q11.2 deletion syndrome.
McDonald-McGinn DM, Gripp KW, Kirschner RE, Maisenbacher MK, Hustead V, Schauer GM, Keppler-Noreuil KM, Ciprero KL, Pasquariello P Jr, LaRossa D, Bartlett SP, Whitaker LA, Zackai EH. McDonald-McGinn DM, et al. Among authors: gripp kw. Am J Med Genet A. 2005 Aug 1;136A(4):358-62. doi: 10.1002/ajmg.a.30746. Am J Med Genet A. 2005. PMID: 16001439
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI Jr, Doyle D, Aoki Y, Matsubara Y, Zackai EH, Lapunzina P, Gonzalez-Meneses A, Holbrook J, Agresta CA, Gonzalez IL, Sol-Church K. Gripp KW, et al. Am J Med Genet A. 2006 Jan 1;140(1):1-7. doi: 10.1002/ajmg.a.31047. Am J Med Genet A. 2006. PMID: 16329078
204 results