Review
Published on 27 Sep 2019
Bradykinin-Mediated Angioedema: An Update of the Genetic Causes and the Impact of Genomics
in Genomic Medicine
Frontiers in Genetics
doi 10.3389/fgene.2019.00900
- 14,992 views
- 39 citations
15 articles related to "Hereditary Forms"
Articles
Original Research
Published on 03 Nov 2025
Family-based NGS panel testing of cardiopathies and arrhythmic syndromes
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1677311
- 1,973 views
Brief Research Report
Published on 24 Sep 2025
Exploring the binding sites of VRT534 at Cx26 as a putative chemical chaperone for targeted treatment of hereditary hearing disorders
in Precision Medicine
Frontiers in Medicine
doi 10.3389/fmed.2025.1607598
- 1,306 views
Review
Published on 17 Jul 2024
Gene therapy advancements for the treatment of acquired and hereditary hearing loss
in Auditory Science
Frontiers in Audiology and Otology
doi 10.3389/fauot.2024.1423853
- 11,911 views
- 7 citations
Mini Review
Published on 12 Feb 2015
Insights into Muscle Degeneration from Heritable Inclusion Body Myopathies
in Neuroinflammation and Neuropathy
Frontiers in Aging Neuroscience
doi 10.3389/fnagi.2015.00013
- 8,794 views
- 11 citations
Case Report
Published on 07 Aug 2025
Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1589397
- 2,362 views
Original Research
Published on 06 Jul 2017
Cardiac Subtype-Specific Modeling of Kv1.5 Ion Channel Deficiency Using Human Pluripotent Stem Cells
in Cardiac Electrophysiology
Frontiers in Physiology
doi 10.3389/fphys.2017.00469
- 8,261 views
- 46 citations
Review
Published on 07 Dec 2012
More epigenetic hits than meets the eye: microRNAs and genes associated with the tumorigenesis of retinoblastoma
in RNA
Frontiers in Genetics
doi 10.3389/fgene.2012.00284
- 10,166 views
- 56 citations
Methods
Published on 11 Jul 2022
Unilateral Surgery for Medullary Thyroid Carcinoma: Seeking for Clinical Practice Guidelines
in Cancer Endocrinology
Frontiers in Endocrinology
doi 10.3389/fendo.2022.875875
- 5,448 views
- 16 citations
Perspective
Published on 21 Apr 2020
Disentangling the Amyloid Pathways: A Mechanistic Approach to Etiology
in Neurodegeneration
Frontiers in Neuroscience
doi 10.3389/fnins.2020.00256
- 11,386 views
- 32 citations
Original Research
Published on 11 Nov 2022
Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.975665
- 3,517 views
- 3 citations
Original Research
Published on 25 Jun 2021
Compound Heterozygosity for KLF1 Mutations Causing Hemolytic Anemia in Children: A Case Report and Literature Review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2021.691461
- 4,595 views
- 9 citations
Original Research
Published on 08 Apr 2022
Postnatal Smad3 Inactivation in Murine Smooth Muscle Cells Elicits a Temporally and Regionally Distinct Transcriptional Response
in Atherosclerosis and Vascular Medicine
Frontiers in Cardiovascular Medicine
doi 10.3389/fcvm.2022.826495
- 7,127 views
- 17 citations
Original Research
Published on 02 Aug 2019
Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer
in Cancer Genetics
Frontiers in Oncology
doi 10.3389/fonc.2019.00673
- 18,943 views
- 51 citations
Original Research
Published on 18 Jul 2022
Molecular Genetic Screening in Patients With ACE Inhibitor/Angiotensin Receptor Blocker-Induced Angioedema to Explore the Role of Hereditary Angioedema Genes
in Pharmacogenetics and Pharmacogenomics
Frontiers in Genetics
doi 10.3389/fgene.2022.914376
- 5,473 views
- 12 citations