Cargando…

Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel

The most common form of inherited lipid disorders is familial hypercholesterolemia (FH). It is characterized primarily by high concentrations of the clinical triad of low-density lipoprotein cholesterol, tendon xanthomas and premature CVD. The well-known genetic background are mutations in LDLR, APO...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rutkowska, Lena, Sałacińska, Kinga, Salachna, Dominik, Matusik, Paweł, Pinkier, Iwona, Kępczyński, Łukasz, Piotrowicz, Małgorzata, Starostecka, Ewa, Lewiński, Andrzej, Gach, Agnieszka
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223034/ https://www.ncbi.nlm.nih.gov/pubmed/35741760 http://dx.doi.org/10.3390/genes13060999

Ejemplares similares

Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients
por: Rutkowska, Lena, et al.
Publicado: (2022)

NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study
por: Sałacińska, Kinga, et al.
Publicado: (2023)

The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta
por: Sałacińska, Kinga, et al.
Publicado: (2022)

Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regions
por: Sałacińska, Kinga, et al.
Publicado: (2021)

New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism
por: Gach, Agnieszka, et al.
Publicado: (2020)

Familial Partial Lipodystrophy—Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3
por: Rutkowska, Lena, et al.
Publicado: (2022)

“Apple does not fall far from the tree” – subclinical atherosclerosis in children with familial hypercholesterolemia
por: Podgórski, Michał, et al.
Publicado: (2020)

A Novel Intronic Splice—Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development
por: Matusik, Pawel, et al.
Publicado: (2021)

Clinical utility of custom-designed NGS panel testing in pediatric tumors
por: Surrey, Lea F., et al.
Publicado: (2019)

Molecular Analysis of Biliary Tract Cancers with the Custom 3′ RACE-Based NGS Panel
por: Mitiushkina, Natalia V., et al.
Publicado: (2023)

Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients
por: Montaño, Adrián, et al.
Publicado: (2020)

Development and Validation of a Targeted ‘Liquid’ NGS Panel for Treatment Customization in Patients with Metastatic Colorectal Cancer
por: Kastrisiou, Myrto, et al.
Publicado: (2021)

A Custom DNA-Based NGS Panel for the Molecular Characterization of Patients With Diffuse Gliomas: Diagnostic and Therapeutic Applications
por: Tirrò, Elena, et al.
Publicado: (2022)

Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design
por: Aguilera-Diaz, Almudena, et al.
Publicado: (2020)

Clinical Features of Familial Hypercholesterolemia in Children and Adults in EAS-FHSC Regional Center for Rare Diseases in Poland
por: Lewek, Joanna, et al.
Publicado: (2021)

Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications
por: La Cognata, Valentina, et al.
Publicado: (2021)

NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital
por: Sandoval-Talamantes, Ana Karen, et al.
Publicado: (2023)

Validation of an NGS mutation detection panel for melanoma
por: Reiman, Anne, et al.
Publicado: (2017)

Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes
por: Gach, Agnieszka, et al.
Publicado: (2020)

PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels
por: Schmidtke, Jörg, et al.
Publicado: (2022)

PB2390: STUDY OF GENETIC ALTERATIONS USING A CUSTOM LYMPHOID TARGETED NGS PANEL IN PATIENTS WITH FOLLICULAR LYMPHOMA: A PILOT STUDY
por: Куневич, Евгений, et al.
Publicado: (2023)

Novel LDLR Variant in Familial Hypercholesterolemia: NGS-Based Identification, In Silico Characterization, and Pharmacogenetic Insights
por: Athar, Mohammad, et al.
Publicado: (2023)

Key considerations for comprehensive validation of an RNA fusion NGS panel
por: Barua, Subit, et al.
Publicado: (2020)

Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia
por: Ravasi, Giulia, et al.
Publicado: (2021)

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics
por: Moreno-Cabrera, José Marcos, et al.
Publicado: (2020)

Helpful Criteria When Implementing NGS Panels in Childhood Lymphoblastic Leukemia
por: Vega-Garcia, Nerea, et al.
Publicado: (2020)

Management of Familial Hypercholesterolemia: A Review of the Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
por: Robinson, Jennifer G.
Publicado: (2013)

A duck RH panel and its potential for assisting NGS genome assembly
por: Rao, Man, et al.
Publicado: (2012)

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart
por: Brusius-Facchin, Ana Carolina, et al.
Publicado: (2019)

Comparison of NGS panel and Sanger sequencing for genotyping CAG repeats in the AR gene
por: Rocca, Maria Santa, et al.
Publicado: (2020)

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice
por: García-García, Gema, et al.
Publicado: (2020)

Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors
por: Martínez-Fernández, Paula, et al.
Publicado: (2021)

Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis
por: Anaclerio, Federico, et al.
Publicado: (2023)

No evidence for change in expression of TBC1D1 and TBC1D4 genes in cultured human adipocytes stimulated by myokines and adipokines
por: Kępczyński, Łukasz, et al.
Publicado: (2021)

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
por: Perez-Carro, Raquel, et al.
Publicado: (2016)

panelcn.MOPS: Copy‐number detection in targeted NGS panel data for clinical diagnostics
por: Povysil, Gundula, et al.
Publicado: (2017)

Bioinformatic strategies for the analysis of genomic aberrations detected by targeted NGS panels with clinical application
por: Hynst, Jakub, et al.
Publicado: (2021)

Validation of an NGS Panel Designed for Detection of Actionable Mutations in Tumors Common in Latin America
por: Salvo, Mauricio, et al.
Publicado: (2021)

What’s new in molecular genetic pathology 2021: solid tumors and NGS panel selection
por: Chen, Guoli, et al.
Publicado: (2021)

SoftPanel: a website for grouping diseases and related disorders for generation of customized panels
por: Wang, Likun, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_12r7vcl1k8lf6kf9b9m0b8pukg