Cargando…

A recurrent de novo missense mutation in UBTF causes developmental neuroregression

Mostrar otras versiones (1)

Detalles Bibliográficos
Autores principales:	Toro, Camilo, Hori, Roderick T, Malicdan, May Christine V, Tifft, Cynthia J, Goldstein, Amy, Gahl, William A, Adams, David R, Fauni, Harper B, Wolfe, Lynne A, Xiao, Jianfeng, Khan, Mohammad M, Tian, Jun, Hope, Kevin A, Reiter, Lawrence T, Tremblay, Michel G, Moss, Tom, Franks, Alexis L, Balak, Chris, LeDoux, Mark S
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2018
Materias:	Corrigenda
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6093340/ https://www.ncbi.nlm.nih.gov/pubmed/29447355 http://dx.doi.org/10.1093/hmg/ddy049

Ejemplares similares

A recurrent de novo missense mutation in UBTF causes developmental neuroregression
por: Toro, Camilo, et al.
Publicado: (2018)

Ribosomal DNA promoter recognition is determined in vivo by cooperation between UBTF1 and SL1 and is compromised in the UBTF-E210K neuroregression syndrome
por: Tremblay, Michel G., et al.
Publicado: (2022)

Neuroregression, coarse features, and oligosaccharides in urines
por: BoAli, Ahmed Y., et al.
Publicado: (2017)

Toddler With Frequent Falls and Neuroregression: Imaging Clues!
por: Sharawat, Indar K, et al.
Publicado: (2020)

Corrigendum: An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease–related patterns
por: Jin, Bowen, et al.
Publicado: (2022)

Clinical aspects of neuroregression: our experience on batten disease
por: Kamate, Mahesh
Publicado: (2014)

The Drosophila melanogaster homolog of UBE3A is not imprinted in neurons
por: Hope, Kevin A., et al.
Publicado: (2016)

Corrigendum: Parkinson-causing α-synuclein missense mutations shift native tetramers to monomers as a mechanism for disease initiation
por: Dettmer, Ulf, et al.
Publicado: (2015)

Electroencephalography as a Diagnostic Aid in a Girl with Neuroregression and Stereotypies
por: Dhar, Debjyoti, et al.
Publicado: (2020)

Expanding the electro-clinical phenotype of CARS2associated neuroregression
por: Kapoor, Dipti, et al.
Publicado: (2021)

Persistence of UBTF tandem duplications in remission in acute myeloid leukaemia
por: Harrop, Sean, et al.
Publicado: (2023)

A Tale of Treatable Infantile Neuroregression and Diagnostic Dilemma with Glutaric Aciduria Type I
por: Yoganathan, Sangeetha, et al.
Publicado: (2017)

Quantification noise in single cell experiments
por: Reiter, M., et al.
Publicado: (2011)

A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings
por: Gu, Fangning, et al.
Publicado: (2019)

Corrigendum: Archaeal amoA and ureC genes and their transcriptional activity in the Arctic Ocean
por: Pedneault, Estelle, et al.
Publicado: (2015)

Corrigendum: Contribution of classical end-joining to PTEN inactivation in p53-mediated glioblastoma formation and drug-resistant survival
por: Kang, Youn-Jung, et al.
Publicado: (2017)

Corrigendum: Molecular characterization of a family 5 glycoside hydrolase suggests an induced-fit enzymatic mechanism
por: Liberato, Marcelo V., et al.
Publicado: (2016)

Palmaris Brevis Syndrome: A Treatable Pseudodystonia
por: LeDoux, Mark S., et al.
Publicado: (2021)

Corrigendum: Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations
por: Hayes, M. Geoffrey, et al.
Publicado: (2016)

Corrigendum to “CXCL1-Mediated Interaction of Cancer Cells with Tumor-Associated Macrophages and Cancer-Associated Fibroblasts Promotes Tumor Progression in Human Bladder Cancer” [Neoplasia 18 (2016) 636–646]
por: Miyake, Makito, et al.
Publicado: (2017)

Corrigendum: Beta 1-integrin–c-Met cooperation reveals an inside-in survival signalling on autophagy-related endomembranes
por: Barrow-McGee, Rachel, et al.
Publicado: (2016)

Corrigendum: DNA methylation signatures link prenatal famine exposure to growth and metabolism
por: Tobi, Elmar W., et al.
Publicado: (2015)

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature
por: Bastos, Filipa, et al.
Publicado: (2020)

UBTF tandem duplications define a distinct subtype of adult de novo acute myeloid leukemia
por: Duployez, Nicolas, et al.
Publicado: (2023)

Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia
por: Umeda, Masayuki, et al.
Publicado: (2022)

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease
por: Poquérusse, Jessie, et al.
Publicado: (2023)

Dissection of DLBCL microenvironment provides a gene expression-based predictor of survival applicable to formalin-fixed paraffin-embedded tissue
por: Ciavarella, S, et al.
Publicado: (2019)

Corrigendum: Critical exponents and scaling invariance in the absence of a critical point
por: Saratz, N., et al.
Publicado: (2017)

Corrigendum: Formation and reshuffling of disulfide bonds in bovine serum albumin demonstrated using tandem mass spectrometry with collision-induced and electron-transfer dissociation
por: Rombouts, Ine, et al.
Publicado: (2015)

Corrigendum: Universality in boundary domain growth by sudden bridging
por: Saberi, A. A., et al.
Publicado: (2016)

Corrigendum: Dynamics of supersonic microparticle impact on elastomers revealed by real–time multi–frame imaging
por: Veysset, David, et al.
Publicado: (2018)

CORRIGENDUM: Large cities are less green
por: Oliveira, Erneson A., et al.
Publicado: (2015)

Corrigendum: The Inhibition of the Rayleigh-Taylor Instability by Rotation
por: Baldwin, Kyle A., et al.
Publicado: (2016)

CORRIGENDUM: Recrystallization and grain growth induced by ELMs-like transient heat loads in deformed tungsten samples
por: Suslova, A., et al.
Publicado: (2015)

Corrigendum: Dynamics and genetics of a disease-driven species decline to near extinction: lessons for conservation
por: Hudson, M. A., et al.
Publicado: (2017)

Corrigendum: Risk Model for Colorectal Cancer in Spanish Population Using Environmental and Genetic Factors: Results from the MCC-Spain study
por: Ibáñez-Sanz, Gemma, et al.
Publicado: (2017)

Corrigendum: Knockout of Foxp2 disrupts vocal development in mice
por: Castellucci, Gregg A., et al.
Publicado: (2017)

Corrigendum to “Data on master regulators and transcription factor binding sites found by upstream analysis of multi-omics data on methotrexate resistance of colon cancer” [Data Brief. 10 (2016) 499–504]
por: Kel, A.E.
Publicado: (2017)

Corrigendum: Polaronic metal state at the LaAlO(3)/SrTiO(3) interface
por: Cancellieri, C., et al.
Publicado: (2016)

Adjuvant bevacizumab for melanoma patients at high risk of recurrence: survival analysis of the AVAST-M trial
por: Corrie, P G, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_htfrpsb2cejsjpae9cuut34t0f