Cargando…

Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management

Whole-exome sequencing (WES) is a powerful and comprehensive tool for the genetic diagnosis of rare diseases, but few reports describe its timely application and clinical impact on infantile cardiomyopathies (CM). We conducted a retrospective analysis of patients with infantile CMs who had trio (pro...

Descripción completa

Detalles Bibliográficos
Autores principales:	Pezzoli, Laura, Pezzani, Lidia, Bonanomi, Ezio, Marrone, Chiara, Scatigno, Agnese, Cereda, Anna, Bedeschi, Maria Francesca, Selicorni, Angelo, Gasperini, Serena, Bini, Paolo, Maitz, Silvia, Maccioni, Carla, Pedron, Cristina, Colombo, Lorenzo, Marchetti, Daniela, Bellini, Matteo, Lincesso, Anna Rita, Perego, Loredana, Pingue, Monica, Della Malva, Nunzia, Mangili, Giovanna, Ferrazzi, Paolo, Iascone, Maria
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8780486/ https://www.ncbi.nlm.nih.gov/pubmed/35050212 http://dx.doi.org/10.3390/jcdd9010002

Ejemplares similares

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?
por: Pezzani, Lidia, et al.
Publicado: (2020)

Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients
por: Rosina, Erica, et al.
Publicado: (2022)

A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation
por: Sana, Maria Elena, et al.
Publicado: (2016)

14q32.3-qter trisomic segment: a case report and literature review
por: Villa, Nicoletta, et al.
Publicado: (2016)

Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome
por: Grazioli, Paolo, et al.
Publicado: (2021)

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders
por: Fontana, L., et al.
Publicado: (2018)

A contemporary European experience with surgical septal myectomy in hypertrophic cardiomyopathy
por: Iacovoni, Attilio, et al.
Publicado: (2012)

Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literature
por: Militaru, Sebastian, et al.
Publicado: (2019)

Covid-19 Massive Vaccination Center Layouts. A modular and Scalable Model for Lombardy Region, Italy
por: Brambilla, Andrea, et al.
Publicado: (2021)

Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review
por: Nacinovich, Renata, et al.
Publicado: (2014)

Menkes disease complicated by concurrent ACY1 deficiency: A case report
por: Mauri, Alessia, et al.
Publicado: (2023)

Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome
por: Mio, Catia, et al.
Publicado: (2020)

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome
por: Crippa, Milena, et al.
Publicado: (2015)

Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature
por: Scelsa, Barbara, et al.
Publicado: (2019)

Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating Leukodystrophy
por: Solazzi, Roberta, et al.
Publicado: (2022)

Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene
por: Bossi, Grazia, et al.
Publicado: (2017)

Ischemic and hemorrhagic abdominal complications in COVID-19 patients: experience from the first Italian wave
por: Bonaffini, Pietro Andrea, et al.
Publicado: (2022)

Vitamin D supplementation and outcomes in coronavirus disease 2019 (COVID-19) patients from the outbreak area of Lombardy, Italy
por: Cereda, Emanuele, et al.
Publicado: (2021)

Infantile ATP7B-Related End-Stage Liver Disease: An Exceptional Wilson Disease Phenotype From Consecutive Generations
por: Nicastro, Emanuele, et al.
Publicado: (2021)

Divergent Thinking in Parkinsonism: A Case–Control Study
por: Canesi, Margherita, et al.
Publicado: (2017)

Detection of 12 respiratory viruses by duplex real time PCR assays in respiratory samples
por: Arvia, Rosaria, et al.
Publicado: (2015)

Efficacy of rasagiline and selegiline in Parkinson’s disease: a head-to-head 3-year retrospective case–control study
por: Cereda, Emanuele, et al.
Publicado: (2017)

Erratum to: Efficacy of rasagiline and selegiline in Parkinson’s disease: a head-to-head 3-year retrospective case–control study
por: Cereda, Emanuele, et al.
Publicado: (2017)

Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction
por: Caleca, Laura, et al.
Publicado: (2018)

The Ecology of Defensive Medicine and Malpractice Litigation
por: Antoci, Angelo, et al.
Publicado: (2016)

Levetiracetam Improves Upper Limb Spasticity in a Patient With Unresponsive Wakefulness Syndrome: A Case Report
por: Pingue, Valeria, et al.
Publicado: (2020)

Impact of Cranioplasty on Rehabilitation Course of Patients with Traumatic or Hemorrhagic Brain Injury
por: Mele, Chiara, et al.
Publicado: (2022)

Neutron Imaging and Learning Algorithms: New Perspectives in Cultural Heritage Applications
por: Scatigno, Claudia, et al.
Publicado: (2022)

Refining the Phenotype of Recurrent Rearrangements of Chromosome 16
por: Redaelli, Serena, et al.
Publicado: (2019)

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
por: Gervasini, Cristina, et al.
Publicado: (2013)

Functional outcome in patients with traumatic or hemorrhagic brain injuries undergoing decompressive craniectomy versus craniotomy and 6-month rehabilitation
por: Pingue, Valeria, et al.
Publicado: (2023)

Diabetes and Risk of Parkinson’s Disease: A systematic review and meta-analysis
por: Cereda, Emanuele, et al.
Publicado: (2011)

Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome
por: Avagliano, Laura, et al.
Publicado: (2017)

The Role of Decompressive Craniectomy on Functional Outcome, Mortality and Seizure Onset after Traumatic Brain Injury
por: Pingue, Valeria, et al.
Publicado: (2023)

Hypomania, Depression, Euthymia: New Evidence in Parkinson's Disease
por: Canesi, Margherita, et al.
Publicado: (2020)

Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts
por: Pistocchi, A, et al.
Publicado: (2013)

Extensive Characterization of the Hemostatic Derangement Occurring in COVID-19 Patients Admitted to the Bergamo Hospital
por: Gomez-Rosas, Patricia, et al.
Publicado: (2020)

Sometimes, the Least Demanding Solution Is the Most Suitable: A Careful Survey of NMR Spectra of a Phosphonium Salt Accounted for Its “Unusual Wittig Reaction”
por: Fantinati, Anna, et al.
Publicado: (2018)

The Fascinating Chemistry of α‐Haloamides
por: Fantinati, Anna, et al.
Publicado: (2020)

The Urokinase Receptor Takes Control of Cell Migration by Recruiting Integrins and FPR1 on the Cell Surface
por: Gorrasi, Anna, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_71v8sskma8ogi1ek4e9o1c5fie