Results 271 to 280 of about 462,672 (344)

Characterizing a murine breast cancer mouse model reveals chromosomal abnormalities in structure and number of single-cell clones and the presence of rare cancer stem cell-like phenotypes. [PDF]

Animal Model Exp Med
Le QV, Kocsis ZS, Liang S, Li Y, Gliddon BL, Bailey S, Nguyen AT, Turnbull T, Pitson SM, Jurányi Z, Le H, Kempson I.   +11 more
europepmc   +1 more source

Genetic testing for familial epilepsies: Diagnostic yield and genetic findings

Epilepsia, EarlyView.
Abstract Objective Genetic testing has become a routine part of clinical epilepsy care. Family history is an indication for genetic testing, but the diagnostic yield, predictors of a genetic diagnosis, and association with familial patterns are not well understood.
Colin A. Ellis, Juliette Copeland, Isabella Velez, Karen L. Oliver, Hannah Shalaby, Aaron Baldwin, Caren Armstrong, Amanda Back, Brianna Berlin, Stacey Cohen, Vishnu Anand Cuddapah, Danielle deCampo, Holly Dubbs, Natalie Ginn, Alicia G. Harrison, Naomi Lewin, Laina Lusk, Eric D. Marsh, Shavonne L. Massey, Pamela Pojomovsky McDonnell, Jillian L. McKee, Xilma Ortiz‐Gonzalez, Anna J. Prentice, Katie Rose Sullivan, Sarah M. Ruggiero, Mark P. Fitzgerald, Ethan M. Goldberg, Ingo Helbig   +27 more
wiley   +1 more source

Prognostic stratification of chordoid meningiomas: the role of chromosome 1p/22q Loss. [PDF]

Acta Neuropathol Commun
Paterra R, Zago M, Agistri F, Hernandez Gamero G, Mafficini A, Pedron S, Berlendis A, Nozzoli F, Di Meco F, Barresi V.   +9 more
europepmc   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

Detection of Copy-Number Variations in CNS Tumours From Off-Target Reads of Hybrid-Capture Sequencing. [PDF]

Neuropathol Appl Neurobiol
Schnorrenberg J, Adrian YL, Schlathölter J, Ruckert C, Horvath J, Paulus W, Hasselblatt M, Thomas C.   +7 more
europepmc   +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

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

Partial Monosomy 21q Due to De Novo t(15;21)(q26.3;q22.11): A Case Report with Clinical and Molecular Findings. [PDF]

Appl Clin Genet
Nojehdeh ST, Fattahi T, Arish S, Mokabber H, Nobakht R, Davarnia S, Davarnia B.   +6 more
europepmc   +1 more source

[Deletion of chromosome 18].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1973
P, Vesterhus, D, Aarskog
openaire   +1 more source