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

JAMA cardiology, 2020-03, Vol.5 (3), p.13

2020

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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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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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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 (2014), p.1-4

2014

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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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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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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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Bacteria Endocarditis Caused by Mycoplasma hyorhinis in a Juvenile, Immunosuppressed Pig (Sus scrofa domesticus) following Partial Heart Transplantation

Comparative medicine, 2024-08, Vol.74 (4), p.295-303

2024

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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

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

Molecular characterization of the calcium release channel deficiency syndrome

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

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

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

eP160 - 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

Bacteria Endocarditis Caused by Mycoplasma hyorhinis in a Juvenile, Immunosuppressed Pig (Sus scrofa domesticus) following Partial Heart Transplantation

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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