Results 111 to 120 of about 317,190 (282)

Transcriptomic Profiling of SLC and ABC Transporters in the Human Term Placenta

Clinical Pharmacology &Therapeutics, EarlyView.
Solute carriers (SLC) and ATP‐binding cassette (ABC) transporters are essential for placental solute exchange and fetal protection, yet their transcriptomic profiles in the human placenta remain poorly characterized. Although fetal sex influences placental development and function, its impact on transporter expression is unclear.
Elijah Marsh Jung, Nicholas Ieronimakis, Bothaina Mousa, Emily D. Sheikh, Sarah E. Ligon, Joshua W. Monson, Jennifer R. Damicis, Hillary J. Kinsman, Lydia E. Bettridge, Samuel L.M. Arnold, Edward J. Kelly, Jashvant D. Unadkat, Joanne Wang   +12 more
wiley   +1 more source

Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome

Epileptic Disorders, EarlyView.
Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin, Joshua Chang, Douglas Nordli III   +2 more
wiley   +1 more source

Genomic Copy Number Variations in the Autism Clinic—Work in Progress

Frontiers in Cellular Neuroscience, 2019
The development of advanced technology for microarray-based chromosomal studies helped discover increased prevalence of genomic copy number variants (CNVs) in individuals with autism spectrum disorder (ASD).
Milen Velinov
doaj   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

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

Microarray technológia alkalmazása génexpressziós vizsgálatokhoz

, 2013
A genomika legújabb tehnológiája, a microarray technika az egyik leggyorsabban fejlődő módszer, amely számos vizsgálatra alkalmas. Szakdolgozatomban a génexpresszió vizsgálatával szorosan összefüggő alkalmazásait mutatom be.gjBiomérnökBSc ...
Kerekes, Nikoletta
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

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

Derivative Complex Small Supernumerary Marker Chromosomes (sSMC) Involving Chromosomes 2 and 15—A Novel Report

Clinical Case Reports
Small supernumerary marker chromosomes (sSMC) constitute a rare group of structural chromosomal abnormalities characterized by additional genetic material that cannot be identified by conventional banding cytogenetics.
Yazeed Alayed, Aziza Mushiba, Soha Tashkandi, Yahya Almashham, Khelad Alsaidi, Abdulrazaq Albohigan, Amer Jamhawi, Mohammad Alkheilewi, Maryam Alotaibi   +8 more
doaj   +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