7
results
for author:"Weksberg R."
in Literature Citations
| Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Zampino G., Pantaleoni F., Carta C., Cobellis G., Vasta I., Neri C., Pogna E.A., De Feo E., Delogu A., Sarkozy A. 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) |
| Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32. Nakabayashi K., Bentley L., Hitchins M.P., Mitsuya K., Meguro M., Minagawa S., Bamforth J.S., Stanier P., Preece M., Weksberg R. et al. Hum. Mol. Genet. 11:1743-1756(2002) · UniProtKB (1) · Mapped (3) |
| Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. Nakabayashi K., Fernandez B.A., Teshima I., Shuman C., Proud V.K., Curry C.J., Chitayat D., Grebe T., Ming J., Oshimura M. et al. |
| Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Boerkoel C.F., Takashima H., John J., Yan J., Stankiewicz P., Rosenbarker L., Andre J.-L., Bogdanovic R., Burguet A., Cockfield S. et al. Nat. Genet. 30:215-220(2002) · UniProtKB (1) |
| A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Smilinich N.J., Day C.D., Fitzpatrick G.V., Caldwell G.M., Lossie A.C., Cooper P.R., Smallwood A.C., Joyce J.A., Schofield P.N., Reik W. et al. Proc. Natl. Acad. Sci. U.S.A. 96:8064-8069(1999) · Mapped (6) |
| Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen. McGrory J., Weksberg R., Thorner P., Cole W.G. Clin. Genet. 50:442-445(1996) · UniProtKB (1) |
