Results 101 to 110 of about 49,281 (297)

Genome Sequence of the Chestnut Blight Fungus Cryphonectria parasitica EP155: A Fundamental Resource for an Archetypical Invasive Plant Pathogen. [PDF]

, 2020
Cryphonectria parasitica is the causal agent of chestnut blight, a fungal disease that almost entirely eliminated mature American chestnut from North America over a 50-year period. Here, we formally report the genome of C. parasitica EP155 using a Sanger
Aerts, Andrea, Barry, Kerrie, Churchill, Alice CL, Crouch, Jo Anne, Dawe, Angus, Grigoriev, Igor V, Grimwood, Jane, Hillman, Bradley I, Milgroom, Michael G, Nuss, Donald L, Pangilinan, Jasmyn, Salamov, Asaf, Schmutz, Jeremy, Smith, Myron, Yadav, Jagjit S   +14 more
core  

Smoldering Systemic Mastocytosis Without Detectable KIT Mutation: A Debilitating Course and Therapeutic Challenge

Cancer Nexus, EarlyView.
Graphical abstract illustrating the clinical course and treatment response. ABSTRACT Systemic mastocytosis (SM) is a clonal hematologic neoplasm driven by activating KIT mutations, particularly D816V. Indolent SM typically follows a stable course, progression to higher‐burden subtypes is uncommon.
Homeniuk Anna, Medina Esenbekova, Micheal Bishara, Layo Akinrinwoye, Leila Metellus, Joane Titus   +5 more
wiley   +1 more source

Prenatal diagnosis of paternal duplication of 11p15.5→14.3: Its implication of Beckwith–Wiedemann syndrome

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: To characterize a prenatally detected chromosomal aberration with molecular cytogenetic approaches and explore its relationship with Beckwith–Wiedemann syndrome (BWS).
Kuan Ju Chen, Yu Mei Liu, Chien Hong Li, Yao Lung Chang, Shuenn Dyh Chang   +4 more
doaj   +1 more source

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

Evaluation of an automated karyotyping system for chromosome aberration analysis [PDF]

Chromosome aberration analysis is a promising complement to conventional radiation dosimetry, particularly in the complex radiation fields encountered in the space environment.
Prichard, Howard M.
core   +1 more source

Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations

Epilepsia, EarlyView.
Abstract Ring chromosome 20 (ring 20) is a rare genetic condition usually presenting as developmental and epileptic encephalopathy. The disease is caused by fusion of the long and short arms of chromosome 20. Patients are symptomatic even if there is no loss of genetic material.
Asma Khamis, Emilia Ricci, Maria Paola Canevini, Lieven Lagae, Kentaro Tokumoto, Yushi Inoue, Tim Buckinx, Allison Watson, Kenneth A. Myers   +8 more
wiley   +1 more source

Diagnosis and management guidelines for infantile epileptic spasms syndrome around the world: A scoping review and comparative study of international approaches

Epilepsia, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) is an epileptic encephalopathy requiring rapid diagnosis and treatment to optimize neurodevelopmental outcomes. Although multiple national and regional guidelines exist, recommendations vary.
Gozde Erdemir, Chethan K. Rao, Anne Francine Pino, Christina Briscoe, Debopam Samanta, Jo M. Wilmshurst, Sonal Bhatia, Jessica L. Carpenter, Christina Hoei‐Hansen, Puneet Jain, Tommy Stodberg, Robyn Whitney, Ryuki Matsuura, Karina Rosso Astorga, Keryma Acevedo Gallinato, Pratibha Singhi, Aristides Hadijinicolaou, Gia Melikishvili, Patricia Smeyers, Nicola Specchio, Stéphane Auvin, Pediatric Epilepsy Research Consortium Infantile Spasm Work Group and International Committee   +21 more
wiley   +1 more source

KARYOTYPE ANALYSIS IN ALMOND

Acta Horticulturae, 2003
Peer ...
Martínez-Gómez, Pedro, Vaknin, Y., Gradziel, Thomas M., Dicenta, Federico   +3 more
openaire   +2 more sources

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