Search Results - "Everman, D.B."

Genotype and phenotype in 12 additional individuals with SATB2‐associated syndrome by Zarate, Y.A., Kalsner, L., Basinger, A., Jones, J.R., Li, C., Szybowska, M., Xu, Z.L., Vergano, S., Caffrey, A.R., Gonzalez, C.V., Dubbs, H., Zackai, E., Millan, F., Telegrafi, A., Baskin, B., Person, R., Fish, J.L., Everman, D.B.

“…SATB2‐associated syndrome (SAS) is a multisystemic disorder caused by alterations of the SATB2 gene. We describe the phenotype and genotype of 12 individuals…”
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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities by Hodge, J C, Mitchell, E, Pillalamarri, V, Toler, T L, Bartel, F, Kearney, H M, Zou, Y S, Tan, W H, Hanscom, C, Kirmani, S, Hanson, R R, Skinner, S A, Rogers, R C, Everman, D B, Boyd, E, Tapp, C, Mullegama, S V, Keelean-Fuller, D, Powell, C M, Elsea, S H, Morton, C C, Gusella, J F, DuPont, B, Chaubey, A, Lin, A E, Talkowski, M E

“…Microdeletions of chromosomal region 2q23.1 that disrupt MBD5 (methyl-CpG-binding domain protein 5) contribute to a spectrum of neurodevelopmental phenotypes;…”
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P63 mutations are not a major cause of non-syndromic split hand/foot malformation by de Mollerat, X J, Everman, D B, Morgan, C T, Clarkson, K B, Rogers, R C, Colby, R S, Aylsworth, A S, Graham, J M, Stevenson, R E, Schwartz, C E

“…11 This gene spans 65 kb, contains 15 exons, and encodes six different protein isoforms using alternative splicing and two translational start sites. 22 P63…”
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