Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk
Pediatric Blood &Cancer, EarlyView.ABSTRACT Children with congenital heart disease (CHD) have elevated neuroblastoma (NB) risk, potentially due to shared neural crest origins. We analyzed rare exonic de novo single‐nucleotide variants in 702 CHD and 454 NB trios from the Neuroblastoma Epidemiology in North America Study, Gabriella Miller Kids First Program, and a published cohort. Seven
Ji Yun Tark +7 more
wiley +1 more source
Frontiers in GeneticsPurposeClinical genetic testing is increasingly integrated in managing and diagnosing cardiac conditions and disease. It is important to identify ongoing challenges.
Kerstin Hundal +10 more
doaj +1 more source
Clinical Correlates of Anxiety and Depression After Diagnosis of a Pediatric Brain Tumor
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background The prevalence and clinical correlates of symptoms of anxiety and depression in pediatric patients with brain tumors are not well described. We aimed to identify clinical characteristics that are correlated with elevated symptoms of anxiety and depression following initial diagnosis.
Bryony J. Lucas +16 more
wiley +1 more source
The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) [PDF]
, 2022 Marwan K. Tayeh +9 more
openalex +1 more source
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. [PDF]
, 2018 BackgroundThe p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease.MethodsTo expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males ...
Brand, Eva +15 more
core +1 more source
Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom
Genetics in Medicine, 2016 Purpose:To ascertain whether and how recontacting occurs in the United Kingdom.Method:A Web-based survey was administered online between October 2014 and July 2015. A link to the survey was circulated via an e-mail invitation to the clinical leads of the
D. Carrieri +6 more
semanticscholar +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Anaplastic sarcoma of the kidney (ASK) is a DICER1‐associated malignant tumor presumed to arise in a benign precursor, pediatric cystic nephroma (PCN). However, the initial oncogenic alteration(s) associated with malignant transformation are unknown.
Nahir Cortes‐Santiago +6 more
wiley +1 more source
New variants of ABCA12 in harlequin ichthyosis baby
Journal of Pediatric and Neonatal Individualized Medicine, 2018 Harlequin ichthyosis (HI) is an extremely rare genetic skin disorder and the most severe form of a group of disorders, which includes lamellar ichthyosis and congenital ichthyosiform erythroderma.
Sara Peixoto +5 more
doaj +1 more source
Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. [PDF]
, 2011 We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and ...
Dipple, Katrina M +3 more
core +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Adverse childhood experiences (ACEs) are stressful or traumatic events prior to age 18 that are known to have a lasting impact on individuals’ health and well‐being. There is a gap in understanding the relationship between ACEs and Other Life Stressors and health status for adults with sickle cell disease (SCD).
Marsha Treadwell +8 more
wiley +1 more source