Results 131 to 140 of about 113,215 (275)

P22.04: Clinical value of chromosomal microarray analysis in prenatally diagnosed transposition of the great arteries [PDF]

, 2017
M. Lee, Hye‐Sung Won, Hyun Mee Ryu
openalex   +1 more source

(Re)-conciliation of genetics and genomics approaches for cotton fiber quality improvement [PDF]

, 2008
The integration of genomics and plant breeding is driven by the increasing availability of sequence resources and by technological developments. The simultaneous measurement of the expression of thousands of genes is possible, and comparisons between ...
Al-Ghazi, Yves, Arioli, Tony, Claverie, Michel, Dennis, Elizabeth, Derycker, Ruud, Forestier-Chiron, Nelly, Giband, Marc, Jacobs, John, Jean, Janine, Lacape, Jean-Marc, Llewellyn, Danny, Viot, Christopher   +11 more
core  

A two‐sample Mendelian randomization study and mediation analysis exploring the link between cathepsins and epilepsy

Epilepsia Open, EarlyView.
Abstract Objective This study aims to investigate the causal relationship between cathepsins and epilepsy, using Mendelian randomization (MR) and mediation analysis. Methods Publicly accessible summary statistics on epilepsy were obtained from FinnGen and the International League Against Epilepsy Consortium.
Huaiyu Sun, Di Ma, Wuqiong Zhang, Shuai Hou, Zhiqing Chen, Xuewei Li, Hongmei Meng, Daguang Zhang   +7 more
wiley   +1 more source

Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring

Frontiers in Genetics
BackgroundBalanced translocations are common chromosomal structural abnormalities that usually do not involve a gain or loss of genetic material; and carriers usually display normal phenotypes and intelligence.
Jing Zhao, Ping Chen, Yijia Ren, Shurong Li, Weiyi Zhang, Yan Li, Fengyu Wang   +6 more
doaj   +1 more source

A sparse regulatory network of copy-number driven expression reveals putative breast cancer oncogenes

, 2010
The influence of DNA cis-regulatory elements on a gene's expression has been intensively studied. However, little is known about expressions driven by trans-acting DNA hotspots.
Caldas, Carlos, Curtis, Christina, Markowetz, Florian, Yuan, Yinyin   +3 more
core   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

A linear mixed model approach to gene expression-tumor aneuploidy association studies. [PDF]

, 2019
Aneuploidy, defined as abnormal chromosome number or somatic DNA copy number, is a characteristic of many aggressive tumors and is thought to drive tumorigenesis.
Balanis, Nikolas G, Eskin, Eleazar, Graeber, Thomas G, Yao, Douglas W   +3 more
core  

Visualizing dimensionality reduction of systems biology data

, 2012
One of the challenges in analyzing high-dimensional expression data is the detection of important biological signals. A common approach is to apply a dimension reduction method, such as principal component analysis. Typically, after application of such a
A Hyvaerinen, A Hyvaerinen, A Inselberg, A Inselberg, A Saeed, Albert Pritzkau, Andreas Lehrmann, Aydin C. Polatkan, DH Jeong, DJ Lockhart, F Battke, F Battke, GH Golub, H Abdi, H Hotelling, HF Kaiser, J Shendure, JB Tenenbaum, K Pearson, Kay Nieselt, KQ Weinberger, LK Saul, M Fontes, M Harrower, M Schena, Michael Huber, P Mannfolk, R Karbauskaite, R Tarjan, S Roweis, Z Zhang, Ö Altug-Teber   +31 more
core   +1 more source

Predictors of etiology and drug resistance in children with new‐onset focal seizures

Epilepsia Open, EarlyView.
Abstract Objective To examine the clinical features of new‐onset focal seizures in children and investigate clinical associations and predictors of underlying etiology and drug resistance. Methods Data were gathered from The Children's Hospital at Westmead admissions for patients aged 1 month to 18 years who presented with new‐onset focal seizures ...
Byoung Chan Lee, Russell C. Dale, Elizabeth H. Barnes, Shekeeb S. Mohammad, Sachin Gupta, Chong Wong, Deepak Gill, Kavitha Kothur   +7 more
wiley   +1 more source

Diagnosis of de novo 17p11.2 microduplication - potocki-lupski syndrome identified by chromosomal microarray analysis: a case report / Diagnóstico de novo 17p11.2 microduplicação - potocki-lupski síndrome identificada por análise de microarray chromosomal: um relatório de caso [PDF]

, 2021
Irene Plaza Pinto, Lysa Bernardes Minasi, Aldaíres Vieira de Melo, Alex Silva da Cruz, Cristiano Luiz Ribeiro, Cláudio Carlos da Silva, Aparecido Divino da Cruz   +6 more
openalex   +1 more source