Results 241 to 250 of about 594,887 (306)

Seminars in epileptology: Holistic management of epilepsy in adults with intellectual development disorders

Epileptic Disorders, EarlyView.
Abstract This seminar addresses the complexity of the management of epilepsy in adults with intellectual development disorders (IDD), advocating holistic and multidisciplinary care aligned with the learning objectives of the International League Against Epilepsy. Epilepsy is significantly more prevalent in people with IDD, presenting unique diagnostic,
Elena Fonseca, Antonella Riva, Samuel López‐Maza, Malin Zaddach, Marie‐Claire Porter, Ingo Borggraefe, Lance Watkins, Andreas Schulze‐Bonhage, Rohit Shankar, Pasquale Striano, Lina Nashef   +10 more
wiley   +1 more source

Neuroprotective Mechanisms of Ciliary Neurotrophic Factor in Retinal Ganglion Cells: Insights from Microarray Analysis. [PDF]

Korean J Ophthalmol
Lee S, Choi JO, Hwang A, Kim CY, Lee K.
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

Prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis: a seven-year single-center retrospective study. [PDF]

BMC Pregnancy Childbirth
Zhuang J, Huang N, Chen Y, Wu J, Ye X, Chen C.   +5 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

Findings in Chromosomal Microarray Analysis during Prenatal Diagnosis in High-Risk Individuals. [PDF]

Mol Syndromol
Carrasco Salas P, Granell Escobar R, Serrano Mira A, Pérez Saldaña A, Cosculluela Vidal M, Garrido C, Vázquez Rico I.   +6 more
europepmc   +1 more source

Microarray analysis of the effects of Acthar Gel versus methylprednisolone in a model of focal segmental glomerulosclerosis in female rats. [PDF]

Physiol Rep
Hayes K, Wright D.
europepmc   +1 more source

<i>PSG</i> and Other Candidate Genes as Potential Biomarkers of Therapy Resistance in B-ALL: Insights from Chromosomal Microarray Analysis and Machine Learning. [PDF]

Int J Mol Sci
Surimova V, Risinskaya N, Kotova E, Abdulpatakhov A, Vasileva A, Chabaeva Y, Starchenko S, Aleshina O, Kapranov N, Galtseva I, Ponomareva A, Kanivets I, Korostelev S, Kulikov S, Sudarikov A, Parovichnikova E.   +15 more
europepmc   +1 more source

Clinical application of chromosome microarray analysis and karyotyping in prenatal diagnosis in Northwest China. [PDF]

Front Genet
Xue S, Liu Y, Wang L, Zhang L, Chang B, Ding G, Dai P.   +6 more
europepmc   +1 more source