Cargando…

A Data-Driven Approach to Carrier Screening for Common Recessive Diseases

Genetic screening is an advanced tool for reducing recessive disease burden. Nowadays, it is still unclear as to the number of genes or their variants that are necessary for effective screening. This paper describes the development of a carrier screening custom panel for cystic fibrosis, phenylketon...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kiseleva, Anna V., Klimushina, Marina V., Sotnikova, Evgeniia A., Divashuk, Mikhail G., Ershova, Alexandra I., Skirko, Olga P., Kurilova, Olga V., Zharikova, Anastasia A., Khlebus, Eleonora Yu., Efimova, Irina A., Pokrovskaya, Maria S., Slominsky, Petr A., Shalnova, Svetlana A., Meshkov, Alexey N., Drapkina, Oxana M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563953/ https://www.ncbi.nlm.nih.gov/pubmed/32971794 http://dx.doi.org/10.3390/jpm10030140

Ejemplares similares

Cystic Fibrosis Polymorphic Variants in a Russian Population
por: Kiseleva, Anna, et al.
Publicado: (2020)

Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases
por: Sotnikova, Evgeniia A., et al.
Publicado: (2022)

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region
por: Ramensky, Vasily E., et al.
Publicado: (2021)

Phenotypic vs. genetic cascade screening for familial hypercholesterolemia: A case report
por: Blokhina, Anastasia V., et al.
Publicado: (2022)

Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study
por: Blokhina, Anastasia V., et al.
Publicado: (2023)

The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia
por: Meshkov, Alexey, et al.
Publicado: (2021)

The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report
por: Myasnikov, Roman, et al.
Publicado: (2021)

The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study
por: Meshkov, Alexey N., et al.
Publicado: (2021)

Genetic landscape in Russian patients with familial left ventricular noncompaction
por: Meshkov, Alexey N., et al.
Publicado: (2023)

Associations of SNPs of the ADIPOQ Gene with Serum Adiponectin Levels, Unstable Angina, and Coronary Artery Disease
por: Smetnev, Stepan, et al.
Publicado: (2019)

Case Report: Hypertriglyceridemia and Premature Atherosclerosis in a Patient With Apolipoprotein E Gene ε2ε1 Genotype
por: Limonova, Alena S., et al.
Publicado: (2021)

Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset
por: Brodehl, Andreas, et al.
Publicado: (2021)

Case Report: Next Generation Sequencing in Clinical Practice–A Real Tool for Ending the Protracted Diagnostic Odyssey
por: Limonova, Alena S., et al.
Publicado: (2022)

A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene
por: Myasnikov, Roman, et al.
Publicado: (2022)

Multiple rare and common variants in APOB gene locus associated with oxidatively modified low-density lipoprotein levels
por: Khlebus, Eleonora, et al.
Publicado: (2019)

Levels of nitric oxide metabolites, adiponectin and endothelin are associated with SNPs of the adiponectin and endothelin genes
por: Gumanova, Nadezhda G., et al.
Publicado: (2019)

The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy
por: Kulikova, Olga, et al.
Publicado: (2021)

A Splice Variant of the MYH7 Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy
por: Myasnikov, Roman P., et al.
Publicado: (2022)

Chronic Respiratory Diseases in the Regions of Northern Russia: Epidemiological Distinctions in the Results of a National Population Study
por: Gambaryan, Marine H., et al.
Publicado: (2017)

Lipoprotein Profile in Populations from Regions of the Russian Federation: ESSE-RF Study
por: Metelskaya, Victoria A., et al.
Publicado: (2022)

Lipoprotein(a) in an adult sample from the Russian population: distribution and association with atherosclerotic cardiovascular diseases
por: Ezhov, Marat V., et al.
Publicado: (2021)

The prevalence of familial hypercholesterolemia in the West Siberian region of the Russian Federation: A substudy of the ESSE-RF
por: Ershova, Alexandra I., et al.
Publicado: (2017)

Regional Living Conditions and Individual Dietary Characteristics of the Russian Population
por: Maksimov, Sergey A., et al.
Publicado: (2023)

Sociodemographic and Regional Determinants of Dietary Patterns in Russia
por: Maksimov, Sergey, et al.
Publicado: (2020)

Classification of Deprivation Indices That Applied to Detect Health Inequality: A Scoping Review
por: Zelenina, Anastasia, et al.
Publicado: (2022)

Characteristics of Composite Deprivation Indices Used in Public Health: A Scoping Review Protocol
por: Zelenina, Anastasia, et al.
Publicado: (2022)

Regional living conditions and the prevalence, awareness, treatment, control of hypertension at the individual level in Russia
por: Maksimov, Sergey Alekseevich, et al.
Publicado: (2022)

Variation in Copy Number of Ty3/Gypsy Centromeric Retrotransposons in the Genomes of Thinopyrum intermedium and Its Diploid Progenitors
por: Divashuk, Mikhail G., et al.
Publicado: (2016)

Major and minor ECG abnormalities depending on regional living conditions in Russia
por: Maksimov, Sergey, et al.
Publicado: (2023)

Age and Serum AMH and FSH Levels as Predictors of the Number of Oocytes Retrieved from Chromosomal Translocation Carriers after Controlled Ovarian Hyperstimulation: Applicability and Limitations
por: Shilenkova, Yulia V., et al.
Publicado: (2020)

Fengycin induces ion channels in lipid bilayers mimicking target fungal cell membranes
por: Zakharova, Anastasiia A., et al.
Publicado: (2019)

What Regional Living Conditions Affect Individual Smoking of Adults in Russia
por: Maksimov, Sergey A., et al.
Publicado: (2021)

Probing Amphotericin B Single Channel Activity by Membrane Dipole Modifiers
por: Ostroumova, Olga S., et al.
Publicado: (2012)

Mental Health of the Russian Federation Population versus Regional Living Conditions and Individual Income
por: Maksimov, Sergey A., et al.
Publicado: (2023)

Blocking ion channels induced by antifungal lipopeptide syringomycin E with amide-linked local anesthetics
por: Zakharova, Anastasiia A., et al.
Publicado: (2018)

Enhanced Dopamine Transmission and Hyperactivity in the Dopamine Transporter Heterozygous Mice Lacking the D3 Dopamine Receptor
por: Sotnikova, Tatyana D., et al.
Publicado: (2020)

Alkaloids Modulate the Functioning of Ion Channels Produced by Antimicrobial Agents via an Influence on the Lipid Host
por: Efimova, Svetlana S., et al.
Publicado: (2020)

Phosphodiesterase Type 5 Inhibitors Greatly Affect Physicochemical Properties of Model Lipid Membranes
por: Zakharova, Anastasiia A., et al.
Publicado: (2021)

Lipid Microenvironment Modulates the Pore-Forming Ability of Polymyxin B
por: Zakharova, Anastasiia A., et al.
Publicado: (2022)

Molecular pathways of liver regeneration: A comprehensive review
por: Kiseleva, Yana V, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_62mf3t9608hd29fv43qpo8kfrc