Cargando…
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation
IMPORTANCE: Neuroinflammatory disorders are a range of severe neurological disorders causing brain and spinal inflammation and are now increasingly recognized in the pediatric population. They are often characterized by marked genotypic and phenotypic heterogeneity, complicating diagnostic work in c...
Autores principales: | McCreary, Dara, Omoyinmi, Ebun, Hong, Ying, Mulhern, Ciara, Papadopoulou, Charalampia, Casimir, Marina, Hacohen, Yael, Nyanhete, Rodney, Ahlfors, Helena, Cullup, Thomas, Lim, Ming, Gilmour, Kimberly, Mankad, Kshitij, Wassmer, Evangeline, Berg, Stefan, Hemingway, Cheryl, Brogan, Paul, Eleftheriou, Despina |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Medical Association
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824223/ https://www.ncbi.nlm.nih.gov/pubmed/31664448 http://dx.doi.org/10.1001/jamanetworkopen.2019.14274 |
Ejemplares similares
-
A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours
por: McCreary, Dara, et al.
Publicado: (2022) -
Janus kinase 1/2 inhibition with baricitinib in the treatment of juvenile dermatomyositis
por: Papadopoulou, Charalampia, et al.
Publicado: (2019) -
Janus kinase 1/2 inhibition for the treatment of autoinflammation associated with heterozygous TNFAIP3 mutation
por: Mulhern, Ciara M., et al.
Publicado: (2019) -
Cutaneous Vasculitis and Digital Ischaemia Caused by Heterozygous Gain-of-Function Mutation in C3
por: Omoyinmi, Ebun, et al.
Publicado: (2018) -
Moyamoya-like cerebrovascular disease in a child with a novel mutation in myosin heavy chain 11
por: Keylock, Annette, et al.
Publicado: (2018)