Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Edward J. Spence"'
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
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
Autor:
Lynne M. Bird, Fowzan S. Alkuraya, Jennifer MacKenzie, Rebecca Sparkes, Andrea L. Gropman, Cinthya J. Zepeda-Mendoza, Brett H. Graham, Campbell K. Brasington, Diane Masser-Frye, Zehra Ordulu, Debra Rita, Karen W. Gripp, Edward J. Spence, Jonas Ibn-Salem, Erica Spiegel, Ranad Shaheen, Michael E. Talkowski, Tammy Kammin, Cynthia C. Morton, Miguel A. Andrade-Navarro, Peter N. Robinson, David J. Harris
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
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
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
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
Autor:
Arthur S. Aylsworth, Jill A. Rosenfeld, Blake C. Ballif, Lisa G. Shaffer, Edward J. Spence, Ann Lucas, Cynthia M. Powell, B. Torchia
Publikováno v:
PLoS ONE, Vol 4, Iss 8, p e6568 (2009)
PLoS ONE
PLoS ONE
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