Search Results - "Torchia, B.S."

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1 by Theisen, A., Rosenfeld, J.A., Shane, K., McBride, K.L., Atkin, J.F., Gaba, C., Hoo, J., Kurczynski, T.W., Schnur, R.E., Coffey, L.B., Zackai, E.H., Schimmenti, L., Friedman, N., Zabukovec, M., Ball, S., Pagon, R., Lucas, A., Brasington, C.K., Spence, J.E., Sparks, S., Banks, V., Smith, W., Friedberg, T., Wyatt, P.R., Aust, M., Tervo, R., Crowley, A., Skidmore, D., Lamb, A.N., Ravnan, B., Sahoo, T., Schultz, R., Torchia, B.S., Sgro, M., Chitayat, D., Shaffer, L.G.

“…Background: Deletions that encompass 2q31.1 have been proposed as a microdeletion syndrome with common clinical features, including intellectual…”
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The human NTT gene : Identification of a novel 17-kb noncoding nuclear RNA expressed in activated CD4+ T cells by LIU, A. Y, TORCHIA, B. S, MIGEON, B. R, SILICIANO, R. F

“…We describe the cloning and characterization of the NTT gene (noncoding transcript in T cells), identified by differential display RT-PCR based on the…”
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DNA replication analysis of FMRI, XIST, and factor 8C loci by FISH shows nontranscribed X-linked genes replicate late by TORCHIA, B. S, CALL, L. M, MIGEON, B. R

“…The relationship between the transcriptional state of a locus and the time when it replicates during DNA synthesis is increasingly apparent. Active autosomal…”
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Molecular Characterization of Tiny Ring X Chromosomes from Females with Functional X Chromosome Disomy and Lack of cis X Inactivation by Jani, Mihir M., Torchia, Beth S., Pai, G.Shashidhar, Migeon, Barbara R.

“…Small ring X chromosomes were first described in mosaic karyotypes of females with the relatively benign phenotype of Turner syndrome. The presence of these…”
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