Cargando…

Genetic Evaluation of Inpatient Neonatal and Infantile Congenital Heart Defects: New Findings and Review of the Literature

The use of clinical genetics evaluations and testing for infants with congenital heart defects (CHDs) is subject to practice variation. This single-institution cross-sectional study of all inpatient infants with severe CHDs evaluated 440 patients using a cardiovascular genetics service (2014–2019)....

Descripción completa

Detalles Bibliográficos
Autores principales:	Helm, Benjamin M., Landis, Benjamin J., Ware, Stephanie M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391303/ https://www.ncbi.nlm.nih.gov/pubmed/34440418 http://dx.doi.org/10.3390/genes12081244

Ejemplares similares

Learning to Crawl: Determining the Role of Genetic Abnormalities on Postoperative Outcomes in Congenital Heart Disease
por: Landis, Benjamin J., et al.
Publicado: (2022)

The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges
por: Landis, Benjamin J., et al.
Publicado: (2016)

Cutaneous eruption in neonate with congenital heart defect
por: Raman, Justin, et al.
Publicado: (2022)

Congenital heart defects in genetics syndromes
por: Digilio, M Cristina, et al.
Publicado: (2015)

A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease
por: Landis, Benjamin J., et al.
Publicado: (2023)

New insights in genetics of congenital heart defects
por: Digilio, MC
Publicado: (2002)

What Is New in Genetics of Congenital Heart Defects?
por: Digilio, Maria Cristina, et al.
Publicado: (2016)

Genetic Evaluation and Use of Chromosome Microarray in Patients with Isolated Heart Defects: Benefits and Challenges of a New Model in Cardiovascular Care
por: Helm, Benjamin M., et al.
Publicado: (2016)

Genetic causes of neonatal and infantile hypercalcaemia
por: Gorvin, Caroline M.
Publicado: (2021)

RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects
por: Zheng, Simin, et al.
Publicado: (2022)

Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling
por: Armstrong, Margaret E., et al.
Publicado: (2018)

Modern Strategy for Identification of Congenital Heart Defects in the Neonatal Period
por: Kardasevic, Mediha, et al.
Publicado: (2016)

Tunable Blood Shunt for Neonates With Complex Congenital Heart Defects
por: Garven, Ellen, et al.
Publicado: (2022)

Neuropathology of Congenital Heart Disease in an Inpatient Autopsy Cohort 2000–2017
por: Rettenmaier, Leigh A., et al.
Publicado: (2020)

Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome
por: Weijerman, Michel Emile, et al.
Publicado: (2010)

Neurometabolic changes in neonates with congenital heart defects and their relation to neurodevelopmental outcome
por: Steger, Céline, et al.
Publicado: (2022)

The significance of neonatal thymectomy for shaping the immune system in children with congenital heart defects
por: Stosio, Małgorzata, et al.
Publicado: (2017)

Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns
por: Diz, Olga María, et al.
Publicado: (2021)

The prevalence of genetic diagnoses in fetuses with severe congenital heart defects
por: van Nisselrooij, Amber E. L., et al.
Publicado: (2020)

Cost-effectiveness analysis of neonatal screening of critical congenital heart defects in China
por: Tobe, Ruoyan Gai, et al.
Publicado: (2017)

Can Erythropoietin Reduce Hypoxemic Neurological Damages in Neonates With Congenital Heart Defects?
por: Ottolenghi, Sara, et al.
Publicado: (2021)

Pattern of congenital heart diseases in Rwandan children with genetic defects
por: Teteli, Raissa, et al.
Publicado: (2014)

Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects
por: Delea, Marisol, et al.
Publicado: (2018)

Focused Strategies for Defining the Genetic Architecture of Congenital Heart Defects
por: Martin, Lisa J., et al.
Publicado: (2021)

Nationwide Survey Reveals High Prevalence of Non-Swimmers among Children with Congenital Heart Defects
por: Apitz, Christian, et al.
Publicado: (2023)

Clinicopathological and genetic findings of infantile nodular fasciitis
por: Qiu, Yan, et al.
Publicado: (2021)

Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome
por: Trevino, Cristina E., et al.
Publicado: (2020)

Surgery for Congenital Heart Defects
por: Singleton, Matthew J.
Publicado: (2008)

Genetic link between renal birth defects and congenital heart disease
por: San Agustin, Jovenal T., et al.
Publicado: (2016)

The current state of prenatal detection of genetic conditions in congenital heart defects
por: Findley, Tina O., et al.
Publicado: (2021)

Physical Activity Among Children With Congenital Heart Defects in Germany: A Nationwide Survey
por: Siaplaouras, Jannos, et al.
Publicado: (2020)

Clinical and genetic findings in patients with congenital cataract and heart diseases
por: Li, Xinru, et al.
Publicado: (2021)

The Genetic Architecture of a Congenital Heart Defect Is Related to Its Fitness Cost
por: Akhirome, Ehiole, et al.
Publicado: (2021)

Congenital infantile digital fibromatosis: a case report and review of the literature
por: Failla, Valérie, et al.
Publicado: (2009)

Congenital infantile digital fibromatosis: a case report and review of the literature
por: Adegoke, Omolade O, et al.
Publicado: (2020)

Epigenomic signature of major congenital heart defects in newborns with Down syndrome
por: Mouat, Julia S., et al.
Publicado: (2023)

Epigenomic signature of major congenital heart defects in newborns with Down syndrome
por: Mouat, Julia S., et al.
Publicado: (2023)

Evaluation of critical congenital heart defects screening using pulse oximetry in the neonatal intensive care unit
por: Van Naarden Braun, K, et al.
Publicado: (2017)

Double Aneuploidy 48,XXY,+21 Associated with a Congenital Heart Defect in a Neonate
por: Shu, X, et al.
Publicado: (2013)

Neonates with critical congenital heart defects: Impact of fetal diagnosis on immediate and short-term outcomes
por: Colaco, Sylvia Michael, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_ack43l18jak5aa1uonvt9fgc3n