Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome-Reference-Cited by-同舟云学术

Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome

Published:2020-05-12 Issue:7 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Lombardo Barbara¹²^ORCID,D'Argenio Valeria¹²,Monda Emanuele³⁴,Vitale Andrea²⁵,Caiazza Martina³⁴,Sacchetti Lucia²,Pastore Lucio¹²,Limongelli Giuseppe³⁴,Frisso Giulia¹²,Mazzaccara Cristina¹²^ORCID

Affiliation:

1. Department of Molecular Medicine and Medical Biotechnology University of Naples “Federico II” Naples Italy

2. CEINGE Advanced Biotechnologies Naples Italy

3. Department of Translational Medical Sciences University of Campania ‘Luigi Vanvitelli’ Caserta Italy

4. Cardiomyopathies and Heart Failure Department Monaldi HospitalUniversity of Campania 'Luigi Vanvitelli' Naples Italy

5. Department of Motor Science and Health University of Naples, Parthenope Naples Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1260

Reference27 articles.

1. Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome

2. Significance of Sarcomere Gene Mutations Analysis in the End-Stage Phase of Hypertrophic Cardiomyopathy

3. Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients

4. Oculo-facio-cardio-dental (OFCD) syndrome: The first Italian case of BCOR and co-occurring OTC gene deletion

5. A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic Alterations in a Large Population of Italian Patients Affected by Neurodevelopmental Disorders;Genes;2024-03-28

2. Positive effects of physical activity in autism spectrum disorder: how influences behavior, metabolic disorder and gut microbiota;Frontiers in Psychiatry;2023-10-10

3. Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis;Journal of Medical Genetics;2023-06-15

4. Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method;Genes;2023-05-15

5. Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy;Genes;2023-04-26