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Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.
Willer T, Prados B, Falcón-Pérez JM, Renner-Müller I, Przemeck GK, Lommel M, Coloma A, Valero MC, de Angelis MH, Tanner W, Wolf E, Strahl S, Cruces J. Willer T, et al. Among authors: cruces j. Proc Natl Acad Sci U S A. 2004 Sep 28;101(39):14126-31. doi: 10.1073/pnas.0405899101. Epub 2004 Sep 21. Proc Natl Acad Sci U S A. 2004. PMID: 15383666 Free PMC article.
Dinucleotide repeat polymorphisms at the D5S1356, D5S1357 and D7S1480 loci.
Velasco E, de la Puente A, Cruces J, Valero MC, García-Patiño E, del Castillo I, Coloma A, Moreno F, Hernández-Chico C. Velasco E, et al. Among authors: cruces j. Hum Mol Genet. 1994 Aug;3(8):1441. doi: 10.1093/hmg/3.8.1441. Hum Mol Genet. 1994. PMID: 7987335 No abstract available.
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG. Beltrán-Valero de Bernabé D, et al. Among authors: cruces j. Am J Hum Genet. 2002 Nov;71(5):1033-43. doi: 10.1086/342975. Epub 2002 Oct 4. Am J Hum Genet. 2002. PMID: 12369018 Free PMC article.
71 results