18 results for author:"Pilz D.T." in Literature citations
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| De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Riviere J.B., van Bon B.W., Hoischen A., Kholmanskikh S.S., O'Roak B.J., Gilissen C., Gijsen S., Sullivan C.T., Christian S.L., Abdul-Rahman O.A. et al. |
| Phenotypic spectrum associated with CASK loss-of-function mutations. Moog U., Kutsche K., Kortum F., Chilian B., Bierhals T., Apeshiotis N., Balg S., Chassaing N., Coubes C., Das S. et al. J. Med. Genet. 48:741-751(2011) · Mapped (2) |
| Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Ostergaard P., Simpson M.A., Connell F.C., Steward C.G., Brice G., Woollard W.J., Dafou D., Kilo T., Smithson S., Lunt P. et al. Nat. Genet. 43:929-931(2011) · UniProtKB (1) |
| Identification of five novel SPRED1 germline mutations in Legius syndrome. Laycock-van Spyk S., Jim H.P., Thomas L., Spurlock G., Fares L., Palmer-Smith S., Kini U., Saggar A., Patton M., Mautner V. et al. Clin. Genet. 80:93-96(2011) · Mapped (1) |
| Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. O'Driscoll M.C., Daly S.B., Urquhart J.E., Black G.C., Pilz D.T., Brockmann K., McEntagart M., Abdel-Salam G., Zaki M., Wolf N.I. et al. Am. J. Hum. Genet. 87:354-364(2010) · UniProtKB (1) · Mapped (4) |
| TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Kumar R.A., Pilz D.T., Babatz T.D., Cushion T.D., Harvey K., Topf M., Yates L., Robb S., Uyanik G., Mancini G.M. et al. Hum. Mol. Genet. 19:2817-2827(2010) · Mapped (5) |
| Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. Abdollahi M.R., Morrison E., Sirey T., Molnar Z., Hayward B.E., Carr I.M., Springell K., Woods C.G., Ahmed M., Hattingh L. et al. Am. J. Hum. Genet. 85:737-744(2009) · UniProtKB (2) · Mapped (1) |
| High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. Mei D., Lewis R., Parrini E., Lazarou L.P., Marini C., Pilz D.T., Guerrini R. J. Med. Genet. 45:355-361(2008) · Mapped (3) |
| Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. Merrill A.E., Bochukova E.G., Brugger S.M., Ishii M., Pilz D.T., Wall S.A., Lyons K.M., Wilkie A.O., Maxson R.E. Jr. Hum. Mol. Genet. 15:1319-1328(2006) · Mapped (15) |
| Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. Aligianis I.A., Morgan N.V., Mione M., Johnson C.A., Rosser E., Hennekam R.C.M., Adams G., Trembath R.C., Pilz D.T., Stoodley N. et al. Am. J. Hum. Genet. 78:702-707(2006) · UniProtKB (1) |
| NTNG1 mutations are a rare cause of Rett syndrome. Archer H.L., Evans J.C., Millar D.S., Thompson P.W., Kerr A.M., Leonard H., Christodoulou J., Ravine D., Lazarou L., Grove L. et al. Am. J. Med. Genet. A 140:691-694(2006) · Mapped (12) |
| Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. Archer H.L., Whatley S.D., Evans J.C., Ravine D., Huppke P., Kerr A., Bunyan D., Kerr B., Sweeney E., Davies S.J. et al. J. Med. Genet. 43:451-456(2006) · Mapped (18) |
| Early onset seizures and Rett-like features associated with mutations in CDKL5. Evans J.C., Archer H.L., Colley J.P., Ravn K., Nielsen J.B., Kerr A., Williams E., Christodoulou J., Gecz J., Jardine P.E. et al. Eur. J. Hum. Genet. 13:1113-1120(2005) · UniProtKB (1) |
| Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections. Yue Y., Stout K., Grossmann B., Zechner U., Brinckmann A., White C., Pilz D.T., Haaf T. J. Med. Genet. 43:143-147(2006) · UniProtKB (1) · Mapped (3) |
| Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. Matsumoto N., Leventer R.J., Kuc J.A., Mewborn S.K., Dudlicek L.L., Ramocki M.B., Pilz D.T., Mills P.L., Das S., Ross M.E. et al. Eur. J. Hum. Genet. 9:5-12(2001) · UniProtKB (1) |
| Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Pilz D.T., Kuc J., Matsumoto N., Bodurtha J., Bernadi B., Tassinari C.A., Dobyns W.B., Ledbetter D.H. Hum. Mol. Genet. 8:1757-1760(1999) · UniProtKB (2) |
| Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS). Matsumoto N., Pilz D.T., Ledbetter D.H. Genomics 56:179-183(1999) · UniProtKB (1) |
| LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Pilz D.T., Matsumoto N., Minnerath S.R., Mills P., Gleeson J.G., Allen K.M., Walsh C.A., Barkovich A.J., Dobyns W.B., Ledbetter D.H. et al. Hum. Mol. Genet. 7:2029-2037(1998) · UniProtKB (1) |