Results 111 to 120 of about 99,772 (304)

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Pulse oximetry screening for congenital heart defects in newborn infants (PulseOx): a test accuracy study

, 2011
Background Screening for congenital heart defects relies on antenatal ultrasonography and postnatal clinical examination; however, life-threatening defects often are not detected.
Middleton, Lee; id_orcid, Thangaratinam, Shakila; id_orcid, Jane P Daniels, Deeks, Jonathan, Alexandra T Furmston, Thangaratinam, S, Khan, Khalid, Abhay Bhoyar, Ewer, Andrew; id_orcid, Khan, KS, Lee J Middleton, Andrew K Ewer, Jonathan J Deeks, Furmston, Alexandra, Bhoyar, A, Shakila Thangaratinam, Khalid S Khan, Daniels, Jane   +17 more
core   +1 more source

Prognostic value of right ventricular dyssynchrony in adults with repaired tetralogy of Fallot

Open Heart
Objective Residual sequelae after surgical repair of tetralogy of Fallot (rTOF) affect clinical outcome. We investigated the prognostic impact of right ventricular (RV) dyssynchrony in adults with rTOF years after the surgical repair.Methods Patients ...
Markus Schwerzmann, Matthias Greutmann, Daniel Tobler, Kerstin Wustmann, Andrea Papa, Clement Nussbaumer, Eleni Goulouti, Fabienne Schwitz   +7 more
doaj   +1 more source

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

Developmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick, Lorraine Eley, Deborah J. Henderson, Bill Chaudhry   +3 more
wiley   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 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

Neurodevelopmental functioning in infants with congenital heart defects

, 2006
This thesis consists of two papers: the first is a literature review providing a summary of the existing research documenting neuropsychological outcome in infants and children with congenital heart defects; the second paper presents the findings from an
Winterson, Amy
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

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

, 2010
Background: the 8p23.1 duplication syndrome and copy number variation of the 8p23.1 defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level.
Emma-Jane Taylor, Liehr, Thomas, Susanne Morlot, Joana Trindade, Ocraft, Kevin, Ana I Paramos, Viv K Maloney, Paramos Ana I, Bunyan Dave, Curtis, Merryl, Claudia Alves, Merryl Curtis, Maloney, Viv K., Dermitzel Anette, Bunyan, Dave, Denise Robinson, Dermitzel, Anette, Thomas Liehr, Alves Claudia, John CK Barber, Kevin Ocraft, Taylor, Emma-Jane, Clare Cooper, Alves, Claudia, Taylor Emma-Jane, Anette Dermitzel, Curtis Merryl, Ocraft Kevin, Barber John CK, Cooper Clare, Paramos, Ana I., Cooper, Clare, Liehr Thomas, Barber, John C.K., Robinson, Denise, Trindade Joana, Morlot, Susanne, Morlot Susanne, Robinson Denise, Maloney Viv K, Dave Bunyan, Trindade, Joana   +41 more
core   +1 more source

A first in disease trial of the safety, tolerability, and anti‐seizure effects of ES‐481 in drug‐resistant epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives ES‐481 is a novel potent and selective antagonist of TARP‐y8‐dependent AMPA receptors. We aimed to assess the potential efficacy, safety and tolerability, and pharmacokinetics of different doses of ES‐481 as an add‐on anti‐seizure medication (ASM) in adults with drug‐resistant epilepsy (DRE). Methods This was a Phase 2A double‐blind,
Emma C. Foster, Lyn Millist, Jack Germaine, Stephanie Chamorro, Caitlin Roberts, John‐Paul Nicolo, Sean Hosking, Piero Perucca, Saul Mullen, Heather Robinson, Rebecca Wharrie, Brittany Walsh, David Reutens, Kimberley Irwin, Hao Zeng, Robert Niecestro, Terence J. O'Brien   +16 more
wiley   +1 more source