Cargando…

Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil

Hereditary anemias are a group of heterogeneous disorders including hemolytic anemias and hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA). Causative mutations occur in a wide range of genes leading to deficiencies in red cell production, structure, or function. The genetic scr...

Descripción completa

Detalles Bibliográficos
Autores principales:	Svidnicki, M. C. C. M., Zanetta, G. K., Congrains-Castillo, A., Costa, F. F., Saad, S. T. O.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2020
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7241966/ https://www.ncbi.nlm.nih.gov/pubmed/32266426 http://dx.doi.org/10.1007/s00277-020-03986-8

Ejemplares similares

Targeted Next Generation Sequencing (NGS) to Diagnose Hereditary Hemolytic Anemias
por: Bharadwaj, Rishab, et al.
Publicado: (2020)

Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia
por: Choi, Yu Jeong, et al.
Publicado: (2023)

Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing
por: Ameziane, Najim, et al.
Publicado: (2012)

Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility
por: Mantere, Tuomo, et al.
Publicado: (2016)

P1527: NEXT GENERATION SEQUENCING IN HEREDITARY SPHEROCYTOSIS DIAGNOSIS
por: García Feria, A., et al.
Publicado: (2022)

CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS)
por: El-Husny, Antonette, et al.
Publicado: (2016)

Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson’s syndrome
por: Bull, Katherine R, et al.
Publicado: (2013)

Targeted next-generation sequencing identifies a novel nonsense mutation in ANK1 for hereditary spherocytosis: A case report
por: Fu, Pan, et al.
Publicado: (2022)

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels
por: LaDuca, Holly, et al.
Publicado: (2017)

Next-generation sequencing of the whole mitochondrial genome identifies functionally deleterious mutations in patients with multiple sclerosis
por: Al-Kafaji, Ghada, et al.
Publicado: (2022)

Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family
por: Shin, Soyoung, et al.
Publicado: (2018)

Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing
por: Park, Hye-Sun, et al.
Publicado: (2022)

Development and validation of next generation sequencing based 35-gene hereditary cancer panel
por: Chan, Wing, et al.
Publicado: (2020)

Novel mutations associated with pyruvate kinase deficiency in Brazil
por: Svidnicki, Maria Carolina Costa Melo, et al.
Publicado: (2018)

Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing
por: Kang, Hyunseok P., et al.
Publicado: (2016)

Identification of point mutations and large intragenic deletions in Fanconi anemia using next‐generation sequencing technology
por: Nicchia, Elena, et al.
Publicado: (2015)

Next‐generation sequencing reveals the presence of DDX41 mutations in acute lymphoblastic leukemia and aplastic anemia
por: Zhang, Yang, et al.
Publicado: (2021)

Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology
por: Jin, Xin, et al.
Publicado: (2014)

Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing
por: Hensiek, Anke, et al.
Publicado: (2014)

Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing
por: Stanislaw, Christine, et al.
Publicado: (2016)

Genetic analysis of Iranian family with hereditary cardiac arrhythmias by next generation sequencing
por: Asadi, Marzieh, et al.
Publicado: (2016)

Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era
por: Gomy, Israel, et al.
Publicado: (2016)

Potential Mutations in Uveal Melanoma Identified Using Targeted Next-Generation Sequencing
por: Yu, Jiayi, et al.
Publicado: (2019)

Novel Mutations Identified in the Chinese Han Population with Keratoconus by Next-Generation Sequencing
por: Chen, Binbin, et al.
Publicado: (2022)

Performance Characterization and Validation of Saliva as an Alternative Specimen Source for Detecting Hereditary Breast Cancer Mutations by Next Generation Sequencing
por: Meghnani, Varsha, et al.
Publicado: (2016)

Intestinal Microbiota in Children with Anemia in Southern Peru through Next-Generation Sequencing Technology
por: Díaz-Rodríguez, Karla, et al.
Publicado: (2022)

How will next generation sequencing (NGS) improve the diagnosis of congenital hemolytic anemia?
por: Bianchi, Paola, et al.
Publicado: (2020)

Spectrum of gene mutations identified by targeted next‐generation sequencing in Chinese leukemia patients
por: Yao, Hongxia, et al.
Publicado: (2020)

Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis
por: Lu, Yan, et al.
Publicado: (2018)

Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer
por: Nicolussi, Arianna, et al.
Publicado: (2019)

Estimating HIV-1 Genetic Diversity in Brazil Through Next-Generation Sequencing
por: Alves, Brunna M., et al.
Publicado: (2019)

Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders
por: Mahmud, Shafi, et al.
Publicado: (2022)

Targeted next generation sequencing identifies somatic mutations in a cohort of Egyptian breast cancer patients
por: Nassar, Auhood, et al.
Publicado: (2020)

Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients
por: Maksemous, Neven, et al.
Publicado: (2016)

Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing
por: Mancini-DiNardo, Debora, et al.
Publicado: (2019)

Corrigendum: Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis
por: Lu, Yan, et al.
Publicado: (2018)

Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma
por: Lu, Hongyang, et al.
Publicado: (2018)

Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients
por: Nguyen, Thong T., et al.
Publicado: (2018)

Targeted next generation sequencing identifies somatic mutations and gene fusions in papillary thyroid carcinoma
por: Lu, Zheming, et al.
Publicado: (2017)

Targeted next generation sequencing of mucosal melanomas identifies frequent NF1 and RAS mutations
por: Cosgarea, Ioana, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_llao6s4nmua7k48d1luivid5k7