Výsledky vyhledávání - "Edward J. Spence"

Akademický článek

Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

Autor: Jill A Rosenfeld, Blake C Ballif, Ann Lucas, Edward J Spence, Cynthia Powell, Arthur S Aylsworth, Beth A Torchia, Lisa G Shaffer

Publikováno v: PLoS ONE, Vol 4, Iss 8, p e6568 (2009)

Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome. Clinical features of this syndrome include severe mental retardation, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and

Externí odkaz: https://doaj.org/article/17256c6256034e5d860fe603db7eecb6

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Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

Publikováno v: American journal of human genetics, vol 101, iss 2
Zepeda-Mendoza, C J, Ibn-Salem, J, Kammin, T, Harris, D J, Rita, D, Gripp, K W, MacKenzie, J J, Gropman, A L, Graham, B H, Shaheen, R, Alkuraya, F S, Brasington, C K, Spence, E J, Masser-Frye, D, Bird, L M, Spiegel, E, Sparkes, R L, Ordulu, Z, Talkowski, M E, Andrade-Navarro, M A, Robinson, P N & Morton, C C 2017, ' Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2017.06.011

Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the biggest challenges in modern molecular diagnosis. To improve our understanding and interpretatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83b6b7bb10a88c1688004b3cc06fa972
https://pubmed.ncbi.nlm.nih.gov/28735859

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COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome

Autor: Vandana Shashi, Thomas R. Kwapil, Margaret N. Berry, Kelly Schoch, Matcheri S. Keshavan, Edward J. Spence, Timothy D. Howard, Jessica Kaczorowski

Publikováno v: Psychiatry Research. 178:433-436

The COMT gene is thought to contribute to the cognitive/psychiatric phenotypes in 22q11.2 deletion syndrome. We measured these manifestations against the Val/Met alleles of the COMT gene, in 40 nonpsychotic 22q11DS children. The Val allele was associ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5066d9c6e42fe1aad37ba2ab42452681
https://doi.org/10.1016/j.psychres.2010.04.048

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Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome

Autor: Margaret N. Berry, Jessica Kaczorowski, Vandana Shashi, Thomas R. Kwapil, Matcheri S. Keshavan, Timothy D. Howard, Rajaprabhakaran Rajarethinam, Edward J. Spence, Diwadkar Vaibhav, Konasale M. Prasad, Dhruman D. Goradia, Cesar S. Santos

Publikováno v: Psychiatry Research: Neuroimaging. 181:1-8

Chromosome 22q11.2 deletion syndrome (22q11DS) is associated with cognitive deficits and morphometric brain abnormalities in childhood and a markedly elevated risk of schizophrenia in adolescence/early adulthood. Determining the relationship between

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0e2c054581f6c298d9c3a5e9ec7645b
https://doi.org/10.1016/j.pscychresns.2009.07.003

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