Search Results - "Telegrafi, A."

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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Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7 by Sheridan, MB, Bytyci Telegrafi, A, Stinnett, V, Umeh, CC, Mari, Z, Dawson, TM, Bodurtha, J, Batista, DAS

“…Myoclonus‐dystonia (M‐D) is a movement disorder that is often associated with mutations in epsilon‐sarcoglycan (SGCE), a maternally imprinted gene at 7q21.3…”
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