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Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era

Pediatric cardiology, 2024-01

2024

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Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype

Journal of cardiovascular development and disease, 2017-09, Vol.4 (3), p.14

2017

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Genetic counseling for congenital heart disease – Practice resource of the National Society of Genetic Counselors

Journal of genetic counseling, 2022-02, Vol.31 (1), p.9-33

2022

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Inherited intragenic PBX1 deletion: Expanding the phenotype

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.234-237

2021

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Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

American journal of human genetics, 2008-07, Vol.83 (1), p.106-111

2008

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Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27

Journal of human genetics, 2015-03, Vol.60 (3), p.151-155

2015

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Molecular characterization of the calcium release channel deficiency syndrome

JCI insight, 2020-08, Vol.5 (15)

2020

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Ovarian function in Duarte galactosemia

Fertility and sterility, 2011-08, Vol.96 (2), p.469-473.e1

2011

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Sudden cardiac death in children and young adults without structural heart disease: a comprehensive review

Reviews in cardiovascular medicine, 2020-06, Vol.21 (2), p.205

2020

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Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm

Case reports in genetics, 2014-01, Vol.2014, p.591516-4

2014

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eP160 - KCNJ5 pathogenic variant p.Gly151Glu and its association with familial hyperaldosteronism and risk for long QT syndrome

Molecular genetics and metabolism, 2021-04, Vol.132, p.S106-S106

2021

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KCNJ5 pathogenic variant p.Gly151Glu and its association with familial hyperaldosteronism and risk for long QT syndrome

Molecular genetics and metabolism, 2021-04, Vol.132, p.S106

2021

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Abstract 10665: Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Underrecognized Preclinical Cardiomyopathy in Pediatrics

Circulation (New York, N.Y.), 2019-11, Vol.140 (Suppl_1 Suppl 1), p.A10665-A10665

2019

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Abstract 12295: Characterization of a Novel Homozygous Multi-exon Ryr2 Duplication Associated With Exertion-related Sudden Unexplained Death in the Young in the Amish Community Using Patient-specific Hipsc-cardiomyocytes

Circulation (New York, N.Y.), 2019-11, Vol.140 (Suppl_1 Suppl 1), p.A12295-A12295

2019

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Abstract 12260: Whole Exome Molecular Autopsy With Copy Number Variant Analysis of Multiple Autopsy Negative Sudden Unexplained Deaths Among Amish Siblings Yields the Discovery of a Novel Homozygous Multi-exon Duplication in the Ryr2-Encoded Ryanodine Receptor

Circulation (New York, N.Y.), 2019-11, Vol.140 (Suppl_1 Suppl 1), p.A12260-A12260

2019

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Inherited intragenic PBX1 deletion: Expanding the phenotype

American journal of medical genetics. Part A, 2021, Vol.185 (1), p.234-237

2021

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Catheter-free ablation of infarct scar through proton beam therapy: Tissue effects in a porcine model

Heart rhythm, 2020-12, Vol.17 (12), p.2190-2199

2020

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The impact of heart valve and partial heart transplant models on the development of banking methods for tissues and organs: A concise review

Cryobiology, 2024-06, Vol.115, p.104880-104880, Article 104880

2024

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Build & Belong: A Peer-Based Intervention to Reduce Medical Student Social Isolation

Teaching and learning in medicine, 2022-10, Vol.34 (5), p.504-513

2022

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Spinal muscular atrophy: A modifiable disease emerges

Paediatric respiratory reviews, 2018-09, Vol.28, p.1-2

2018

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Development of a Quality Improvement Learning Collaborative to Improve Pediatric Sepsis Outcomes

Pediatrics (Evanston), 2021-01, Vol.147 (1), p.1

2021

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Surgical Protocol for Partial Heart Transplantation in Growing Piglets

World journal for pediatric & congenital heart surgery, 2024-05, p.21501351241245115-21501351241245115

2024

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The relationship among physical activity, obesity, and physical function in community-dwelling older women

Preventive medicine, 2004-07, Vol.39 (1), p.74-80

2004

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Caffeine Use in Military Personnel With PTSD: Prevalence and Impact on Sleep

Behavioral sleep medicine, 2019-03, Vol.17 (2), p.202-212

2019

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Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era

Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype

Genetic counseling for congenital heart disease – Practice resource of the National Society of Genetic Counselors

Inherited intragenic PBX1 deletion: Expanding the phenotype

Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community

Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27

Molecular characterization of the calcium release channel deficiency syndrome

Ovarian function in Duarte galactosemia

Sudden cardiac death in children and young adults without structural heart disease: a comprehensive review

Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm

eP160 - KCNJ5 pathogenic variant p.Gly151Glu and its association with familial hyperaldosteronism and risk for long QT syndrome

KCNJ5 pathogenic variant p.Gly151Glu and its association with familial hyperaldosteronism and risk for long QT syndrome

Abstract 10665: Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Underrecognized Preclinical Cardiomyopathy in Pediatrics

Abstract 12295: Characterization of a Novel Homozygous Multi-exon Ryr2 Duplication Associated With Exertion-related Sudden Unexplained Death in the Young in the Amish Community Using Patient-specific Hipsc-cardiomyocytes

Abstract 12260: Whole Exome Molecular Autopsy With Copy Number Variant Analysis of Multiple Autopsy Negative Sudden Unexplained Deaths Among Amish Siblings Yields the Discovery of a Novel Homozygous Multi-exon Duplication in the Ryr2-Encoded Ryanodine Receptor

Inherited intragenic PBX1 deletion: Expanding the phenotype

Catheter-free ablation of infarct scar through proton beam therapy: Tissue effects in a porcine model

The impact of heart valve and partial heart transplant models on the development of banking methods for tissues and organs: A concise review

Build & Belong: A Peer-Based Intervention to Reduce Medical Student Social Isolation

Spinal muscular atrophy: A modifiable disease emerges

Development of a Quality Improvement Learning Collaborative to Improve Pediatric Sepsis Outcomes

Surgical Protocol for Partial Heart Transplantation in Growing Piglets

The relationship among physical activity, obesity, and physical function in community-dwelling older women

Caffeine Use in Military Personnel With PTSD: Prevalence and Impact on Sleep

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