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Case Report: An association of left ventricular outflow tract obstruction with 5p deletions.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1451746
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- Article
A descriptive investigation of clinical practice models used by cardiovascular genetic counselors in North America.
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- Journal of Genetic Counseling, 2023, v. 32, n. 2, p. 362, doi. 10.1002/jgc4.1643
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- Article
Assessing genetic counselors' graduate school education and training in congenital heart defects.
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- Journal of Genetic Counseling, 2022, v. 31, n. 3, p. 735, doi. 10.1002/jgc4.1540
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- Article
The impact of cardiovascular genetic counseling on patient empowerment.
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- Journal of Genetic Counseling, 2019, v. 28, n. 3, p. 570, doi. 10.1002/jgc4.1050
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- Article
The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services.
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- Journal of Genetic Counseling, 2018, v. 27, n. 3, p. 558, doi. 10.1007/s10897-017-0169-5
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- Article
Persistent left superior vena cava: an overlooked feature of CHARGE syndrome?
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- Cardiogenetics, 2015, v. 5, n. 1, p. 21, doi. 10.4081/cardiogenetics.2015.5511
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- Article
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1711, doi. 10.1002/ajmg.a.38854
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- Article
Analysis of TFGBR1*6A variant in individuals evaluated for Marfan syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1786, doi. 10.1002/ajmg.a.37668
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- Article
Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1288, doi. 10.1002/ajmg.a.37568
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- Publication type:
- Article
Aortopathy in the 7q11.23 microduplication syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 363, doi. 10.1002/ajmg.a.36859
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- Publication type:
- Article
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: Case report of a novel SALL1 deletion and review of the literature.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 533, doi. 10.1002/ajmg.a.34426
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- Article
Molecular Characterization of Pediatric Restrictive Cardiomyopathy from Integrative Genomics.
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- Scientific Reports, 2017, p. 39276, doi. 10.1038/srep39276
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- Publication type:
- Article
The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5.
- Published in:
- Scientific Reports, 2016, p. 33231, doi. 10.1038/srep33231
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- Publication type:
- Article
Adolescents with congenital heart defects: a patient and parental perspective of genetic information and genetic risk.
- Published in:
- 2020
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- Publication type:
- journal article
High burden of genetic conditions diagnosed in a cardiac neurodevelopmental clinic.
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- 2017
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- Publication type:
- journal article
Evaluation of genetic causes of cardiomyopathy in childhood.
- Published in:
- 2015
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- Publication type:
- journal article
Replacement of the Aortic Valve in a Patient with Mucolipidosis III.
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- Cardiology in the Young, 2009, v. 19, n. 6, p. 641, doi. 10.1017/S1047951109991120
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- Publication type:
- Article
Identification of a Novel ZIC3 Isoform and Mutation Screening in Patients with Heterotaxy and Congenital Heart Disease.
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- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023755
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- Article
Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.
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- 2018
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- Publication type:
- journal article
Genetics of human heterotaxias.
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- European Journal of Human Genetics, 2006, v. 14, n. 1, p. 17, doi. 10.1038/sj.ejhg.5201506
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- Publication type:
- Article
A multi-disciplinary, comprehensive approach to management of children with heterotaxy.
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- 2022
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- Publication type:
- journal article
Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.
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- 2019
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- Publication type:
- journal article
Congenital heart defects caused by FOXJ1.
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- Human Molecular Genetics, 2023, v. 32, n. 14, p. 2335, doi. 10.1093/hmg/ddad065
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- Publication type:
- Article
SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.
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- Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r91
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- Publication type:
- Article
Heart defects in X‐linked heterotaxy: Evidence for a genetic interaction of Zic3 with the nodal signaling pathwayThis article was accepted for inclusion in Developmental Dynamics 235 #1 –Cardiovascular Special Issue.
- Published in:
- Developmental Dynamics, 2006, v. 235, n. 6, p. 1631
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- Publication type:
- Article
Zic3 is critical for early embryonic patterning during gastrulation.
- Published in:
- Developmental Dynamics, 2006, v. 235, n. 3, p. 776
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- Publication type:
- Article
Approaches to Studying Outcomes in Patients With Congenital Heart Disease With Genetic Syndromes: What Down Syndrome Can Teach Us.
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- Journal of the American Heart Association, 2024, v. 13, n. 2, p. 1, doi. 10.1161/JAHA.123.033193
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- Publication type:
- Article
Progressive Left Ventricular Remodeling for Predicting Mortality in Children With Dilated Cardiomyopathy: The Pediatric Cardiomyopathy Registry.
- Published in:
- Journal of the American Heart Association, 2024, v. 13, n. 2, p. 1, doi. 10.1161/JAHA.121.022557
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- Publication type:
- Article
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.
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- Journal of the American Heart Association, 2023, v. 12, n. 18, p. 1, doi. 10.1161/JAHA.123.029340
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- Publication type:
- Article
Learning to Crawl: Determining the Role of Genetic Abnormalities on Postoperative Outcomes in Congenital Heart Disease.
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- 2022
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- Publication type:
- journal article
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
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- 2021
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- Publication type:
- journal article
Loss of Zic3 impairs planar cell polarity leading to abnormal left–right signaling, heart defects and neural tube defects.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 24, p. 2402, doi. 10.1093/hmg/ddab195
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- Publication type:
- Article
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
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- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4339, doi. 10.1093/hmg/ddt283
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- Publication type:
- Article
Zic3 is required in the migrating primitive streak for node morphogenesis and left-right patterning.
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- Human Molecular Genetics, 2013, v. 22, n. 10, p. 1913, doi. 10.1093/hmg/ddt001
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- Publication type:
- Article
Preaxial polydactyly caused by Gli3 haploinsufficiency is rescued by Zic3 loss of function in mice.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1888, doi. 10.1093/hmg/dds002
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- Publication type:
- Article
Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.
- Published in:
- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0372-6
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- Publication type:
- Article
Genetic Testing Practices in Infants with Congenital Heart Disease.
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- Congenital Heart Disease, 2014, v. 9, n. 2, p. 158, doi. 10.1111/chd.12112
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- Article
Back Cover, Volume 39, Issue 12.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. ii, doi. 10.1002/humu.23685
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- Article
Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy.
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- Human Mutation, 2018, v. 39, n. 12, p. 2083, doi. 10.1002/humu.23661
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- Article
Genetic and Functional Analyses of ZIC3 Variants in Congenital Heart Disease.
- Published in:
- Human Mutation, 2014, v. 35, n. 1, p. 66, doi. 10.1002/humu.22457
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- Publication type:
- Article
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 861, doi. 10.1093/hmg/ddn411
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- Article
Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3.
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- Human Molecular Genetics, 2007, v. 16, n. 2, p. 187, doi. 10.1093/hmg/ddl461
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- Publication type:
- Article
Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing.
- Published in:
- Genes, 2024, v. 15, n. 4, p. 505, doi. 10.3390/genes15040505
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- Publication type:
- Article
Genetic Evaluation of Inpatient Neonatal and Infantile Congenital Heart Defects: New Findings and Review of the Literature.
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- Genes, 2021, v. 12, n. 8, p. 1244, doi. 10.3390/genes12081244
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- Article
Single cell RNA analysis of the left–right organizer transcriptome reveals potential novel heterotaxy genes.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-36862-2
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- Publication type:
- Article
DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 2, p. 1, doi. 10.1371/journal.pgen.1005821
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- Article