Results 161 to 170 of about 100,877 (263)

Genome Wide Identification and Characterization of <i>BrE2F</i> Family Gene of <i>Brassica rapa</i>. [PDF]

Int J Genomics
Sultana N, Jone MJH, Sharma AC, Saha SR, Hossain MR, Akhter S, Rahman MA, Naher J.   +7 more
europepmc   +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

A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Minale EMP, Martone S, Criscuolo C, Marra R, Lasorsa VA, Ruggiero R, Suero T, Capasso M, Andolfo I, Iolascon A, Russo R, Pinelli M.   +11 more
europepmc   +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

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Xq28 duplication not F8 inversion: integrated genetic reanalysis redefines prenatal carrier diagnosis. [PDF]

Sci Rep
Yang X, Maimaiti S, Qi Q, Zhou X, Hao N, Chang J, Li M, Yin K, Lü Y, Jiang Y.   +9 more
europepmc   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

The subunit composition of the mammalian Mediator complex is not conserved in all vertebrates: Insights from evolutionary plasticity of fish genomes. [PDF]

Protein Sci
Symonová R, Near TJ, Kubečka J.
europepmc   +1 more source

DNA Methylation and Transcriptomic Profiles of Wilms Tumour Reveal New Deregulated Genes and Epigenetic Processes Relevant for Tumour Stratification and Management

International Journal of Cancer, EarlyView.
ABSTRACT Wilms Tumour (WT), the most common kidney cancer in children, presents features of altered kidney development and frequently exhibits molecular alterations at the 11p15.5 imprinted locus, affecting the IGF2 and H19 genes, which contribute to tumour growth and predisposition.
Abu Saadat, Francesco Cecere, Federica Rossetti, Laura Pignata, Emilia D'Angelo, Carlo Giaccari, Gaetano Verde, Paola Quarello, Franca Fagioli, Josep Roma, Manel Esteller, Enrique de Álava, Flavia Cerrato, Andrea Riccio, Angela Sparago   +14 more
wiley   +1 more source

Genetic analysis of <i>F8</i> mutations in five hemophilia a carriers. [PDF]

Front Med (Lausanne)
Sun H, Mei L, He X, Gao H, Huang X, Chen J, Cai M, Li P, Ge Y, Huang Y.   +9 more
europepmc   +1 more source