Results 221 to 230 of about 18,741 (315)

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

Chromosomal evolution and phylogeny in the Nullicauda group (Chiroptera, Phyllostomidae): evidence from multidirectional chromosome painting. [PDF]

BMC Evol Biol, 2018
Gomes AJB, Nagamachi CY, Rodrigues LRR, Ferguson-Smith MA, Yang F, O'Brien PCM, Pieczarka JC.   +6 more
europepmc   +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

Chromosomal evolution among leaf-nosed nectarivorous bats – evidence from cross-species chromosome painting (Phyllostomidae, Chiroptera) [PDF]

, 2013
Cibele G. Sotero-Caio, Marianne Volleth, Lauren Gollahon, Beiyuan Fu, William Cheng, Bee Ling Ng, Fengtang Yang, Robert J. Baker   +7 more
openalex   +1 more source

Genetic landscape of patients with atypical absence status epilepticus: A systematic review

Epilepsia Open, EarlyView.
Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Maria Cristina Cioclu, Giada Giovannini, Stefano Meletti   +2 more
wiley   +1 more source

FISH of Alu-PCR amplified YAC clones and applications in tumor cytogenetics [PDF]

, 1994
Choo, K. H. A., Cremer, Thomas, Lengauer, Christoph, Speicher, Michael R.   +3 more
core  

Paintig of defined chromosomal regions by in situ suppression hybridization of libraries from laser-microdissected chromosomes [PDF]

, 1991
Cremer, Thomas, Eckelt, A., Endlich, N., Greulich, K. O., Lengauer, Christoph, Lichter, Peter, Ponelies, N., Weith, A.   +7 more
core   +1 more source

Chromosome Painting in Neotropical Long- and Short-Tailed Parrots (Aves, Psittaciformes): Phylogeny and Proposal for a Putative Ancestral Karyotype for Tribe Arini. [PDF]

Genes (Basel), 2018
de Oliveira Furo I, Kretschmer R, O'Brien PCM, Pereira JC, Del Valle Garnero A, Gunski RJ, Ferguson-Smith MA, de Oliveira EHC.   +7 more
europepmc   +1 more source

Dietary and biomarker‐guided strategies as supportive measures in the fragile X syndrome

Food Biomacromolecules, EarlyView.
Abstract The fragile X syndrome (FXS) is an inherited neurodevelopmental disorder that primarily affects males, often resulting in an IQ below 55, while about two‐thirds of females also experience intellectual disability. Physical features may include an elongated face, prominent ears, finger joint laxity, and enlarged testes in males.
Jailan E. El Halawani, Reem R. AlOlaby
wiley   +1 more source

High-resolution chromosome painting with repetitive and single-copy oligonucleotides in Arachis species identifies structural rearrangements and genome differentiation. [PDF]

BMC Plant Biol, 2018
Du P, Li L, Liu H, Fu L, Qin L, Zhang Z, Cui C, Sun Z, Han S, Xu J, Dai X, Huang B, Dong W, Tang F, Zhuang L, Han Y, Qi Z, Zhang X.   +17 more
europepmc   +1 more source