A5075046653- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- Prenatal Screening and Diagnostics
- Renal and related cancers
- RNA modifications and cancer
- Tumors and Oncological Cases
- Genomics and Rare Diseases
- Ethics and Legal Issues in Pediatric Healthcare
- CRISPR and Genetic Engineering
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Urological Disorders and Treatments
- Connective tissue disorders research
- Congenital heart defects research
- Protein Tyrosine Phosphatases
- Advanced biosensing and bioanalysis techniques
- Genetic and Kidney Cyst Diseases
- DNA and Nucleic Acid Chemistry
- Assisted Reproductive Technology and Twin Pregnancy
- Genomic variations and chromosomal abnormalities
- Congenital Diaphragmatic Hernia Studies
- Hedgehog Signaling Pathway Studies
- DNA Repair Mechanisms
- Tracheal and airway disorders
- Telemedicine and Telehealth Implementation
- Eosinophilic Disorders and Syndromes
Children's Hospital of Philadelphia
2016-2025
University of Pennsylvania
2016-2025
Pediatrics and Genetics
2021-2025
California University of Pennsylvania
2024
Philadelphia University
2020-2023
Creative Commons
2023
Yale University
2005-2006
<h3>Background</h3> Congenital hyperinsulinism (HI) can have monogenic or syndromic causes. Although HI has long been recognised to be common in children with Beckwith–Wiedemann syndrome (BWS), the underlying mechanism is not known. <h3>Methods</h3> We characterised clinical features of both and BWS/11p overgrowth spectrum, evaluated contribution KATP channel mutations molecular pathogenesis their assessed associated BWS. <h3>Results</h3> identified 28 from 1997 2014. Mosaic paternal...
Abstract Beckwith‐Wiedemann syndrome (BWS) is the most common epigenetic overgrowth and cancer predisposition disorder. Due to both varying molecular defects involving chromosome 11p15 tissue mosaicism, patients can present with a variety of clinical features, leading newly defined spectrum (BWSp). The BWSp be further divided into three subsets patients: those presenting classic isolated lateralized (ILO) not fitting previous two categories, termed atypical BWSp. Previous reports BWS have...
Abstract Here we describe three subjects with mosaic genome‐wide paternal uniparental isodisomy (GWpUPD) each of whom presented initially overgrowth, hemihyperplasia (HH), and hyperinsulinism (HI). Due to the severity findings presence additional features, SNP array testing was performed, which demonstrated GWpUPD. Comparing these individuals 10 other live‐born reported in literature, predominant phenotype is that pUPD11 notable for a very high incidence tumor development. Our developed...
We designate a novel term “isolated lateralized overgrowth” (ILO) for the findings previously described as hemihypertrophy” and hemihyperplasia.” ILO is defined overgrowth in absence of recognized pattern malformations, dysplasia, or morphologic variants. likely genetically heterogeneous. Further study required to determine more underlying genetic etiologies potential associations with currently unrecognized patterns malformation.
Abstract Beckwith–Wiedemann syndrome (BWS) is a genetic associated with overgrowth and cancer predisposition, including predisposition to Wilms tumor (WT). Patients BWS spectrum are screened from birth age 7 years for BWS‐associated cancers. However, in some cases may be the first recognized manifestation of syndrome. We describe 12 patients diagnosed after presenting WT. discuss features these hypothesize that earlier detection by attention its subtler manifestations could lead children at...
The use of assisted reproductive technologies (ART) can induce a congenital overgrowth condition in humans and ruminants, namely Beckwith-Wiedemann syndrome (BWS) large offspring (LOS), respectively. Shared phenotypes epigenotypes have been found between BWS LOS. We observed global misregulation transcripts bovine foetuses with microRNAs (miRNAs) are important post-transcriptional gene expression regulators. hypothesize that there is miRNA LOS this shared BWS. In study, small RNA sequencing...
Imprinting is a classic mammalian epigenetic phenomenon that results in expression from single parental allele. defects can lead to inappropriate the normally silenced allele, but it remains unclear whether every cell mutant organism follows population average, which would have profound implications for human imprinting disorders. Here, we apply new fluorescence situ hybridization method measures allele-specific cells address this question mutants exhibiting aberrant H19/Igf2 ( insulin-like...
Multifocal atrial tachycardia (MAT) has a well‐known association with Costello syndrome, but is rarely described related RAS/MAPK pathway disorders (RASopathies). We report 11 patients RASopathies (Costello, Noonan, and Noonan syndrome multiple lentigines [formerly LEOPARD syndrome]) nonreentrant tachycardias (MAT ectopic tachycardia) demonstrating overlap in cardiac arrhythmia phenotype. Similar seen respect to skeletal, musculoskeletal cutaneous abnormalities, dysmorphic facial features,...
Abstract Background Somatic overgrowth conditions, including Proteus syndrome, Sturge–Weber and PIK3CA ‐related spectrum, are caused by post‐zygotic pathogenic variants, result in segmental mosaicism, give rise to neural, cutaneous and/or lipomatous overgrowth. These variants occur growth‐promoting pathways leading cellular proliferation expansion of tissues that arise from the affected lineage. Methods We report on 80 serial patients evaluated for somatic conditions a diagnostic laboratory...
Extensive cell-to-cell variation exists even among putatively identical cells, and there is great interest in understanding how the properties of transcription relate to this heterogeneity. Differential expression from two gene copies diploid cells could potentially contribute, yet our ability measure which copy individual RNAs originated remains limited, particularly context tissues. Here, we demonstrate quantitative, single molecule allele-specific RNA FISH adapted for use on tissue...
Constitutional or somatic mosaic epimutations are increasingly recognized as a mechanism of gene dysregulation resulting in cancer susceptibility. Beckwith-Wiedemann syndrome is the predisposition most commonly associated with epimutation and extremely variable its phenotypic presentation, which can include isolated tumors. Because to authors' knowledge large-scale germline DNA sequencing studies have not included methylation analysis, percentage pediatric that due unknown.Germline testing...