8
results
for author:"Gripp K.W."
in Literature Citations
| Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. Sol-Church K., Stabley D.L., Demmer L.A., Agbulos A., Lin A.E., Smoot L., Nicholson L., Gripp K.W. Am. J. Med. Genet. A 149A:315-321(2009) · Mapped (8) |
| Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? Gripp K.W., Innes A.M., Axelrad M.E., Gillan T.L., Parboosingh J.S., Davies C., Leonard N.J., Lapointe M., Doyle D., Catalano S. et al. Am. J. Med. Genet. A 146:683-690(2008) · UniProtKB (1) · Mapped (7) |
| Somatic mosaicism for an HRAS mutation causes Costello syndrome. Gripp K.W., Stabley D.L., Nicholson L., Hoffman J.D., Sol-Church K. Am. J. Med. Genet. A 140:2163-2169(2006) · Mapped (8) |
| HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Gripp K.W., Lin A.E., Stabley D.L., Nicholson L., Scott C.I. Jr., Doyle D., Aoki Y., Matsubara Y., Zackai E.H., Lapunzina P. et al. Am. J. Med. Genet. A 140:1-7(2006) · UniProtKB (1) |
| Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Sheen V.L., Jansen A., Chen M.H., Parrini E., Morgan T., Ravenscroft R., Ganesh V., Underwood T., Wiley J., Leventer R. et al. |
| Human chromosome 7: DNA sequence and biology. Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R. et al. Science 300:767-772(2003) · UniProtKB (658) |
| Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Gripp K.W., Wotton D., Edwards M.C., Roessler E., Ades L., Meinecke P., Richieri-Costa A., Zackai E.H., Massague J., Muenke M. et al. Nat. Genet. 25:205-208(2000) · UniProtKB (1) |
| A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Muenke M., Gripp K.W., McDonald-Mcginn D.M., Gaudenz K., Whitaker L.A., Bartlett S.P., Markowitz R.I., Robin N.H., Nwokoro N., Mulvihill J.J. et al. Am. J. Hum. Genet. 60:555-564(1997) · UniProtKB (1) |
