Search Results - "Peters, S U"

Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome by Peters, S. U., Hundley, R. J., Wilson, A. K., Carvalho, C. M. B., Lupski, J. R., Ramocki, M. B.

“…The aim of this study was to determine the frequency, timing, and associated features of developmental regression in MECP2 duplication syndrome. We also…”
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Autism in Angelman syndrome: implications for autism research by Peters, SU, Beaudet, AL, Madduri, N, Bacino, CA

“…Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe mental retardation, ataxia, and a happy/sociable disposition. Maternally, but…”
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22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH by Dhar, S.U., del Gaudio, D., German, J.R., Peters, S.U., Ou, Z., Bader, P.I., Berg, J.S., Blazo, M., Brown, C.W., Graham, B.H., Grebe, T.A., Lalani, S., Irons, M., Sparagana, S., Williams, M., Phillips III, J.A., Beaudet, A.L., Stankiewicz, P., Patel, A., Cheung, S.W., Sahoo, T.

“…The 22q13.3 deletion syndrome results from loss of terminal segments of varying sizes at 22qter. Few genotype–phenotype correlations have been found but all…”
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Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations by Sahoo, T, Peters, S U, Madduri, N S, Glaze, D G, German, J R, Bird, L M, Barbieri-Welge, R, Bichell, T J, Beaudet, A L, Bacino, C A

“…Background: Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, dysmorphic features, ataxia, seizures, and…”
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Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region by Berg, Jonathan S, Brunetti-Pierri, Nicola, Peters, Sarika U, Kang, Sung-Hae L, Fong, Chin-to, Salamone, Jessica, Freedenberg, Debra, Hannig, Vickie L, Prock, Lisa Albers, Miller, David T, Raffalli, Peter, Harris, David J, Erickson, Robert P, Cunniff, Christopher, Clark, Gary D, Blazo, Maria A, Peiffer, Daniel A, Gunderson, Kevin L, Sahoo, Trilochan, Patel, Ankita, Lupski, James R, Beaudet, Arthur L, Cheung, Sau Wai

“…Williams-Beuren syndrome is among the most well-characterized microdeletion syndromes, caused by recurrent de novo microdeletions at 7q11.23 mediated by…”
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Microarray based comparative genomic hybridization testing in deletion earing patients with angelman syndrome : genotype-phenotype correlations by SAHOO, T, PETERS, S. U, MADDURI, N. S, GLAZE, D. G, GERMAN, J. R, BIRD, L. M, BARBIERI-WELGE, R, BICHELL, T. J, BEAUDET, A. L, BACINO, C. A

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O0010 EFFECT OF MATERNAL DOCOSAHEXAENOIC ACID (DHA) SUPPLEMENTATION ON NEUROPSYCHOLOGICAL AND VISUAL STATUS OF FORMER BREAST‐FED INFANTS AT FIVE YEARS OF AGE by Jensen, C. L., Voigt, R. G., Llorente, A. M., Peters, S. U., Prager, T. C., Zou, Y., Fraley, J. K., Heird, W. C.

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Cognitive and adaptive behavior profiles of children with Angelman syndrome by Peters, Sarika U., Goddard-Finegold, Jan, Beaudet, Arthur L., Madduri, Niru, Turcich, Marie, Bacino, Carlos A.

“…Angelman syndrome (AS) is a neurodevelopmental disorder caused by maternal deficiency of the UBE3A gene that encodes E6‐AP ubiquitin‐protein ligase. Expression…”
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O0010 EFFECT OF MATERNAL DOCOSAHEXAENOIC ACID (DHA) SUPPLEMENTATION ON NEUROPSYCHOLOGICAL AND VISUAL STATUS OF FORMER BREAST-FED INFANTS AT FIVE YEARS OF AGE by Jensen, C. L., Voigt, R. G., Llorente, A. M., Peters, S. U., Prager, T. C., Zou, Y., Fraley, J. K., Heird, W. C.

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Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2) by Lalani, Seema R, Sahoo, Trilochan, Sanders, Merideth E, Peters, Sarika U, Bejjani, Bassem A

“…Deletion of 15q21q22 is a rare chromosomal anomaly. To date, there have been nine reports describing ten individuals with different segmental losses involving…”
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