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Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease.
- Published in:
- Disease Markers, 2010, v. 28, n. 5, p. 287, doi. 10.1155/2010/530360
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- Publication type:
- Article
22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects.
- Published in:
- Children, 2022, v. 9, n. 6, p. 772, doi. 10.3390/children9060772
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- Publication type:
- Article
Congenital superior caval vein aneurysm in a newborn with cystic lymphangioma: a rare case report.
- Published in:
- 2018
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- Publication type:
- journal article
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
- Published in:
- Human Mutation, 2020, v. 41, n. 12, p. 2087, doi. 10.1002/humu.24112
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- Publication type:
- Article
Clinical and functional characterization of a novel RASopathy‐causing SHOC2 mutation associated with prenatal‐onset hypertrophic cardiomyopathy.
- Published in:
- Human Mutation, 2019, v. 40, n. 8, p. 1046, doi. 10.1002/humu.23767
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- Publication type:
- Article
Cover Image, Volume 39, Issue 10.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. i, doi. 10.1002/humu.23622
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- Publication type:
- Article
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1428, doi. 10.1002/humu.23593
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- Publication type:
- Article
Neuroinflammatory Markers in the Serum of Prepubertal Children with Down Syndrome.
- Published in:
- 2020
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- Publication type:
- journal article
Atrioventricular canal defect in patients with RASopathies.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 200, doi. 10.1038/ejhg.2012.145
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- Publication type:
- Article
Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 146, doi. 10.3390/genes14010146
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- Publication type:
- Article
Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study.
- Published in:
- Genes, 2022, v. 13, n. 12, p. 2334, doi. 10.3390/genes13122334
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- Publication type:
- Article
Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 1047, doi. 10.3390/genes12071047
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- Publication type:
- Article
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.
- Published in:
- Genes, 2019, v. 10, n. 9, p. 675, doi. 10.3390/genes10090675
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- Publication type:
- Article
Isolated persistence of the fifth aortic arch in an infant presenting with congestive heart failure.
- Published in:
- Annals of Pediatric Cardiology, 2020, v. 13, n. 1, p. 91, doi. 10.4103/apc.APC_53_19
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- Publication type:
- Article
Impaction of regurgitation jet on anterior mitral leaflet is associated with diastolic dysfunction in patients with bicuspid aortic valve and mild insufficiency: a cardiovascular magnetic resonance study.
- Published in:
- International Journal of Cardiovascular Imaging, 2022, v. 38, n. 1, p. 211, doi. 10.1007/s10554-021-02384-z
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- Publication type:
- Article
Paroxysmal reciprocating supraventricular tachycardia in infants: electrophysiologically guided medical treatment and long-term evolution of the re-entry circuit.
- Published in:
- EP: Europace, 2008, v. 10, n. 5, p. 629, doi. 10.1093/europace/eun069
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- Publication type:
- Article
Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.
- Published in:
- PLoS ONE, 2019, v. 14, n. 4, p. 1, doi. 10.1371/journal.pone.0211170
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- Publication type:
- Article
Neonatal Marfan Syndrome by Inherited Mutation.
- Published in:
- 2021
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- Publication type:
- Letter
The role of terlipressin in the management of severe pulmonary hypertension in congenital diaphragmatic hernia.
- Published in:
- 2009
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- Publication type:
- Letter
Hybrid Single-Stage Repair of Kommerell's Diverticulum in a Right Aortic Arch in a Patient With 22q11.2 Deletion Syndrome.
- Published in:
- Vascular & Endovascular Surgery, 2022, v. 56, n. 6, p. 595, doi. 10.1177/15385744221090911
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- Publication type:
- Article
Reply to: Comment on Long-Term Renal Function in Unilateral Non-Syndromic Renal Tumor Survivors Treated According to International Society of Pediatric Oncology Protocols.
- Published in:
- 2015
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- Publication type:
- commentary
Long-term renal function in unilateral non-syndromic renal tumor survivors treated according to International Society of Pediatric Oncology protocols.
- Published in:
- 2015
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- Publication type:
- journal article
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
- Published in:
- Diagnostics (2075-4418), 2024, v. 14, n. 6, p. 594, doi. 10.3390/diagnostics14060594
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- Publication type:
- Article
The heart in RASopathies.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 440, doi. 10.1002/ajmg.c.32014
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- Publication type:
- Article
Is Osteogenesis Imperfecta Associated with Cardiovascular Abnormalities? A Systematic Review of the Literature.
- Published in:
- Calcified Tissue International, 2024, v. 114, n. 3, p. 210, doi. 10.1007/s00223-023-01171-3
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- Publication type:
- Article
Ebstein's anomaly in a child with osteogenesis imperfecta type I.
- Published in:
- 2011
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- Publication type:
- Case Study
Influence of physical activity on cardiorespiratory fitness in children after renal transplantation.
- Published in:
- Nephrology Dialysis Transplantation, 2012, v. 27, n. 4, p. 1677, doi. 10.1093/ndt/gfr434
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- Publication type:
- Article
Might there be an association between polycystic kidney desease and noncompaction of the ventricular myocardium?
- Published in:
- Nephrology Dialysis Transplantation, 2009, v. 24, n. 12, p. 3884, doi. 10.1093/ndt/gfp499
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- Publication type:
- Article
Isolated Cleft of the Mitral Valve: Its Pathogenic Relationship with Endocardial Cushion Defects.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes—A report of 74 cases with systematic review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2351, doi. 10.1002/ajmg.a.62763
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- Publication type:
- Article
Congenital heart defects in molecularly confirmed KBG syndrome patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1149, doi. 10.1002/ajmg.a.62632
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- Publication type:
- Article
Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2003, doi. 10.1002/ajmg.a.62196
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- Publication type:
- Article
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1073, doi. 10.1002/ajmg.a.61524
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- Publication type:
- Article
Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiers.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2087, doi. 10.1002/ajmg.a.38662
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- Publication type:
- Article
Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2196, doi. 10.1002/ajmg.a.34131
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- Publication type:
- Article
Genetics of atrioventricular canal defects.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00825-4
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- Publication type:
- Article
Association of Nonalcoholic Fatty Liver Disease with Subclinical Cardiovascular Changes: A Systematic Review and Meta-Analysis.
- Published in:
- 2015
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- Publication type:
- journal article
Laterality, heterotaxy, and isolated congenital heart defects: The genetic basis of the segmental nature of the heart.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01375-8
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- Publication type:
- Article
Atrioventricular canal defect is the classic congenital heart disease in Bardet–Biedl syndrome.
- Published in:
- Annals of Human Genetics, 2021, v. 85, n. 3, p. 101, doi. 10.1111/ahg.12413
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- Publication type:
- Article