Results 61 to 70 of about 968,335 (302)

Copy number variation in bipolar disorder [PDF]

Molecular Psychiatry, 2015
Large (>100 kb), rare (500 kb) CNVs in BD compared with SZ, most notably for deletions >1 Mb (P=9 × 10(-4)).
Green, EK, Rees, E, Walters, JTR, Smith, K-G, Forty, L, Grozeva, D, Moran, JL, Sklar, P, Ripke, S, Chambert, KD, Genovese, G, McCarroll, SA, Jones, I, Jones, L, Owen, MJ, O’Donovan, MC, Craddock, N, Kirov, G   +17 more
openaire   +3 more sources

Feasibility and Safety of High‐Dose Proton Re‐Irradiation in Recurrent Pediatric Central Nervous System Tumors: A Single‐Institution Retrospective Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Pediatric central nervous system (CNS) tumors often recur despite multimodality therapy. Although re‐irradiation (re‐RT) has historically been limited by concerns for severe late toxicities, modern techniques have renewed interest in this approach. Proton therapy provides dosimetric advantages that may enable curative re‐treatment with
Jin‐Ho Song, Jonathan Baron, Carlos Chavez Perez, Sidharth Ramesh, Jane Minturn, Kavita A. Desai, Amish C. Shah, Jean M. Belasco, Kristina A. Cole, Michael J. Fisher, Phillip B. Storm, Peter M. Madsen, Goldie Kurtz, Robert A. Lustig, Christine Hill‐Kayser, Michael J. LaRiviere   +15 more
wiley   +1 more source

“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay

Molecular Genetics & Genomic Medicine, 2019
Background Mucopolysaccharidosis type I (MPS I) is a rare, recessively inherited lysosomal storage disorder, characterized by progressive multi‐systemic disease.
Amir Jahic, Sven Günther, Nicole Muschol, Barbro Fossøy Stadheim, Øivind Braaten, Hanne Kjensli Hyldebrandt, Gé‐Ann Kuiper, Karen Tylee, Frits A. Wijburg, Christian Beetz   +9 more
doaj   +1 more source

Copy number variations in alternative splicing gene networks impact lifespan.

PLoS ONE, 2013
Longevity has a strong genetic component evidenced by family-based studies. Lipoprotein metabolism, FOXO proteins, and insulin/IGF-1 signaling pathways in model systems have shown polygenic variations predisposing to shorter lifespan.
Joseph T Glessner, Albert Vernon Smith, Saarene Panossian, Cecilia E Kim, Nagahide Takahashi, Kelly A Thomas, Fengxiang Wang, Kallyn Seidler, Tamara B Harris, Lenore J Launer, Brendan Keating, John Connolly, Patrick M A Sleiman, Joseph D Buxbaum, Struan F A Grant, Vilmundur Gudnason, Hakon Hakonarson   +16 more
doaj   +1 more source

Detection of copy number variants in African goats using whole genome sequence data

BMC Genomics, 2021
Background Copy number variations (CNV) are a significant source of variation in the genome and are therefore essential to the understanding of genetic characterization.
Wilson Nandolo, Gábor Mészáros, Maria Wurzinger, Liveness J. Banda, Timothy N. Gondwe, Henry A. Mulindwa, Helen N. Nakimbugwe, Emily L. Clark, M. Jennifer Woodward-Greene, Mei Liu, the VarGoats Consortium, George E. Liu, Curtis P. Van Tassell, Benjamin D. Rosen, Johann Sölkner   +14 more
doaj   +1 more source

Copy Number Variation across European Populations

PLoS ONE, 2011
Genome analysis provides a powerful approach to test for evidence of genetic variation within and between geographical regions and local populations. Copy number variants which comprise insertions, deletions and duplications of genomic sequence provide one such convenient and informative source.
Chen, Wanting, Hayward, Caroline, Wright, Alan F, Hicks, Andrew A, Vitart, Veronique, Knott, Sara, Wild, Sarah H, Pramstaller, Peter P, Wilson, James F, Rudan, Igor, Porteous, David J   +10 more
openaire   +5 more sources

Defining Roles in Pediatric Palliative Care: Perspectives From Oncology and Palliative Care Teams

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Early integration of pediatric palliative care (PPC) is associated with improved symptom management, quality of life, and healthcare utilization for children with cancer. Despite this, variation persists in how PPC is understood, operationalized, and integrated within pediatric oncology programs. In particular, ambiguity surrounding
Leeat Granek, Lori Wiener, Stephanie Veldhuijzen van Zanten, Donna Johnston, Fyeza Hasan, Adam Rapoport, Nathasha Datoo, Kimberley Widger, Sumit Gupta, Karen Fergus, Anthony K. C. Chan, Alisha Kassam, Emily McCullogh, Dave Lysecki   +13 more
wiley   +1 more source

Enhancer chip: detecting human copy number variations in regulatory elements.

PLoS ONE, 2012
Critical functional properties are embedded in the non-coding portion of the human genome. Recent successful studies have shown that variations in distant-acting gene enhancer sequences can contribute to disease.
Marco Savarese, Giulio Piluso, Daniela Orteschi, Giuseppina Di Fruscio, Manuela Dionisi, Francesca del Vecchio Blanco, Annalaura Torella, Teresa Giugliano, Michele Iacomino, Marcella Zollino, Giovanni Neri, Vincenzo Nigro   +11 more
doaj   +1 more source

Mutations as Levy flights

, 2021
Data from a long time evolution experiment with Escherichia Coli and from a large study on copy number variations in subjects with european ancestry are analyzed in order to argue that mutations can be described as Levy flights in the mutation space ...
Gonzalez, Augusto, Leon, Dario
core  

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula [PDF]

, 2016
Oesophageal atresia (OA) with or without tracheoesophageal fistula (TOF) are rare anatomical congenital malformations whose cause is unknown in over 90% of patients.
Bever, Y. (Yolande) van, Beverloo, H.B. (Berna), Boemers, T.M. (Thomas M.), Brooks, A.S. (Alice), Brosens, E. (Erwin), Choinitzki, V. (Vera), Douben, H. (Hannie), Eussen, H.J.F.M.M. (Bert), Helm, R.M. (Robert) van der, Herms, S. (Stefan), Hilger, A.C. (Alina C), Hoffmann, P. (Per), Hölscher, A. (Alice), IJsselstijn, H. (Hanneke), Jong, E.M. (Elisabeth) de, Klein, A. (Annelies) de, Lacher, M., Ludwig, M. (Michael), Marsch, F. (Florian), Reutter, H. (Heiko), Schumacher, J. (Johannes), Scott, D.A., Tibboel, D. (Dick), Ure, B. (Benno), Van Opstal, A.R.M. (Diane), Wijnen, R.M.H. (René), Zaveri, H.P. (Hitisha)   +26 more
core   +1 more source