Results 131 to 140 of about 22,467,747 (285)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21: A Case Report and Review of the Literature

Case Reports in Genetics, 2014
We report a case of a neonate who was shown with routine chromosome analysis on peripheral blood lymphocytes to have full monosomy 21. Further investigation on fibroblast cells using conventional chromosome and FISH analysis revealed two additional ...
Trent Burgess, Lilian Downie, Mark D. Pertile, David Francis, Melissa Glass, Sara Nouri, Rosalynn Pszczola   +6 more
doaj   +1 more source

Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies. [PDF]

Genet Res (Camb), 2022
Wang J, Wang D, Yin Y, Deng Y, Ye M, Wei P, Zhang Z, Chen C, Qin S, Wang X.   +9 more
europepmc   +1 more source

Comparison and Analysis of Microarray Databases

, 2014
Microarray technology has become widely utilized by biologists as an important functional genomics approach. Combined with the Internet and web technologies, a load of microarray databases have been developed.
許輝煌, Hsu, Hui-Huang; Yang, Andy C.; Lu, Ming-Da   +1 more
core  

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Array of Testing Characterizes Prenatal Diagnosis of Mosaic Tetrasomy 9p24q22.3 Associated With an Unusually Mild Phenotype and Favourable Outcome

Molecular Genetics & Genomic Medicine
Background Tetrasomy 9p is a rare chromosomal disorder with distinct clinical features, but wide phenotypic variability. Historically, tetrasomy 9p has been detected by conventional cytogenetic analysis, but newer technologies such as non‐invasive ...
Crystle Lee, Ellen Casey, David J. Amor
doaj   +1 more source

Application of chromosome microarray analysis and karyotyping in diagnostic assessment of abnormal Down syndrome screening results. [PDF]

BMC Pregnancy Childbirth, 2022
Kang H, Wang L, Li X, Gao C, Xie Y, Hu Y.   +5 more
europepmc   +1 more source

Factor Analysis for Multiple Testing (FAMT): An R Package for Large-Scale Significance Testing under Dependence [PDF]

The R package FAMT (factor analysis for multiple testing) provides a powerful method for large-scale significance testing under dependence. It is especially designed to select differentially expressed genes in microarray data when the correlation ...
Chloe Friguet, David Causeur, Magalie Houee-Bigot, Maela Kloareg   +3 more
core  

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

Management of Infantile Epileptic Spasms Syndrome: A survey of US pediatric hospitals

Epilepsia Open, EarlyView.
Abstract Objective To evaluate the management practices of Infantile Epileptic Spasms Syndrome (IESS) across tertiary pediatric hospitals in the United States using a survey‐based approach. Methods A 21‐question survey focused on management setting, work‐up, follow‐up and treatment was created and sent to 45 member institutions of the Pediatric ...
Akshat Katyayan, Christina Briscoe, Sonam Bhalla, Sonal Bhatia, Gozde Erdemir, Chellamani Harini, Senyene E. Hunter, John R. Mytinger, Duyu Nie, Archana Pasupuleti, Shital H. Patel, Debopam Samanta, Amanda Sandoval Karamian, Avantika Singh, Deepa Sirsi, Danielle S. Takacs, Shaun A. Hussain   +16 more
wiley   +1 more source