Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement …
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …
characterized by phenotypic variability that might include overgrowth, macroglossia …
[HTML][HTML] Diagnosis and management of Beckwith-Wiedemann syndrome
KH Wang, J Kupa, KA Duffy, JM Kalish - Frontiers in pediatrics, 2020 - frontiersin.org
Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that
presents with a wide spectrum of clinical features including overgrowth, abdominal wall …
presents with a wide spectrum of clinical features including overgrowth, abdominal wall …
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
T Eggermann, G Perez de Nanclares, ER Maher… - Clinical …, 2015 - Springer
Congenital imprinting disorders (IDs) are characterised by molecular changes affecting
imprinted chromosomal regions and genes, ie genes that are expressed in a parent-of-origin …
imprinted chromosomal regions and genes, ie genes that are expressed in a parent-of-origin …
Cancer risk in Beckwith-Wiedemann syndrome: a systematic review and meta-analysis outlining a novel (Epi) genotype specific histotype targeted screening protocol
A Mussa, C Molinatto, G Baldassarre, E Riberi… - The Journal of …, 2016 - Elsevier
Objective To compare tumor risk in the 4 Beckwith-Wiedemann syndrome (BWS) molecular
subgroups: Imprinting Control Region 1 Gain of Methylation (ICR1-GoM), Imprinting Control …
subgroups: Imprinting Control Region 1 Gain of Methylation (ICR1-GoM), Imprinting Control …
(Epi) genotype–phenotype correlations in Beckwith–Wiedemann syndrome
Beckwith–Wiedemann syndrome (BWS) is characterized by cancer predisposition,
overgrowth and highly variable association of macroglossia, abdominal wall defects …
overgrowth and highly variable association of macroglossia, abdominal wall defects …
[HTML][HTML] Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
Abstract Beckwith–Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …
characterized by phenotypic variability that might include overgrowth, macroglossia …
Effects of canagliflozin on amputation risk in type 2 diabetes: the CANVAS Program
Aims/hypothesis The primary analysis of the Canagliflozin cardioVascular Assessment
Study (CANVAS) Program showed canagliflozin to have a beneficial effect on …
Study (CANVAS) Program showed canagliflozin to have a beneficial effect on …
[PDF][PDF] Epigenetics and imprinting in human disease
Most genes are expressed from both parental chromosomes; however, a small number of
genes in mammals are imprinted and expressed in a parent-of-origin specific manner …
genes in mammals are imprinted and expressed in a parent-of-origin specific manner …
[PDF][PDF] Characterization of prevalence and health consequences of uniparental disomy in four million individuals from the general population
Meiotic nondisjunction and resulting aneuploidy can lead to severe health consequences in
humans. Aneuploidy rescue can restore euploidy but may result in uniparental disomy …
humans. Aneuploidy rescue can restore euploidy but may result in uniparental disomy …
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
D Mackay, J Bliek, M Kagami, J Tenorio-Castano… - Clinical …, 2022 - Springer
Background Imprinting disorders, which affect growth, development, metabolism and
neoplasia risk, are caused by genetic or epigenetic changes to genes that are expressed …
neoplasia risk, are caused by genetic or epigenetic changes to genes that are expressed …