Results 71 to 80 of about 19,041 (213)

A new karyotypic formula for the genus Amphisbaena (Squamata: Amphisbaenidae) [PDF]

Phyllomedusa: Journal of Herpetology, 2010
To contribute to the knowledge of chromosome evolution in Amphisbaena, we describe the karyotype constitution and the NOR location of Amphisbaena bolivica Mertens, 1929.
Camila Falcione, Alejandra Hernando
doaj  

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Genetic testing among patients evaluated for epilepsy surgery

Epileptic Disorders, EarlyView.
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela, Veera‐Julia Kuronen, Oskari Timonen, Leena Jutila, Katri Silvennoinen, Annemari Kilpeläinen, Jarkko Kirjavainen, Reetta Kälviäinen   +7 more
wiley   +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

Chromosome number, karyotype morphology, heterochromatin distribution and nuclear DNA content of some talitroidean amphipods (Crustacea: Gammaridea)

European Journal of Entomology, 2008
Chromosome number, karyotype formula, C-banding pattern, genome size and DNA base composition were studied in three species of Hyalidae and seven species of Talitridae.
Angelo LIBERTINI, Renata TRISOLINI, Massimiliano RAMPIN   +2 more
doaj   +1 more source

Pediatric new‐onset seizure‐like events: Yield of diagnostic work‐up

Epileptic Disorders, EarlyView.
Abstract Objective To assess the diagnostic yield of ancillary investigations in children presenting with new‐onset seizure‐like events (SLEs) at a tertiary first seizure clinic (FSC). Methods We conducted a retrospective cohort study including 1213 children evaluated for new‐onset SLEs at a tertiary FSC.
Geertruida Slinger, Lotte Noorlag, Willem M. Otte, Maeike Zijlmans, Rosalie L. Neijzen, Sandra M. A. van der Salm, Floor E. Jansen, Kees P. J. Braun, Eric van Diessen   +8 more
wiley   +1 more source

Extensive Karyotype Reorganization in the Fish Gymnotus arapaima (Gymnotiformes, Gymnotidae) Highlighted by Zoo-FISH Analysis

Frontiers in Genetics, 2018
The genus Gymnotus (Gymnotiformes) contains over 40 species of freshwater electric fishes exhibiting a wide distribution throughout Central and South America, and being particularly prevalent in the Amazon basin.
Milla de Andrade Machado, Julio C. Pieczarka, Fernando H. R. Silva, Patricia C. M. O'Brien, Malcolm A. Ferguson-Smith, Cleusa Y. Nagamachi   +5 more
doaj   +1 more source

Establishing consensus diagnostic criteria for ring chromosome 20 syndrome: A modified electronic Delphi consensus study

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to establish expert consensus clinical and diagnostic criteria for ring chromosome 20 syndrome using a modified electronic Delphi process. Methods In this modified two‐round electronic Delphi consensus study, international experts rated candidate statements using a 9‐point Likert scale.
Abizairie Sánchez‐Feliciano, William D. James, Mark P. Fitzgerald, Allison Watson, Angela Peron, Antonio Gil‐Nagel, Kenneth A. Myers, Kentaro Tokumoto, Lieven Lagae, Nancy B. Spinner, Rhys H. Thomas, Rudolf R. Roth, Sarah Woodson, Tim Buckinx, Yushi Inoue, John S. Barbieri   +15 more
wiley   +1 more source

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