[HTML][HTML] Diagnosis and management of Silver–Russell syndrome: first international consensus statement
EL Wakeling, F Brioude, O Lokulo-Sodipe… - Nature Reviews …, 2017 - nature.com
Abstract This Consensus Statement summarizes recommendations for clinical diagnosis,
investigation and management of patients with Silver–Russell syndrome (SRS), an …
investigation and management of patients with Silver–Russell syndrome (SRS), an …
[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 …
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome
Background Russell Silver syndrome (RSS) leads to prenatal and postnatal growth
retardation. About 55% of RSS patients present a loss-of-methylation of the paternal ICR1 …
retardation. About 55% of RSS patients present a loss-of-methylation of the paternal ICR1 …
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell …
N Chiesa, A De Crescenzo, K Mishra… - Human molecular …, 2012 - academic.oup.com
A cluster of imprinted genes at chromosome 11p15. 5 is associated with the growth
disorders, Silver–Russell syndrome (SRS) and Beckwith–Wiedemann syndrome (BWS). The …
disorders, Silver–Russell syndrome (SRS) and Beckwith–Wiedemann syndrome (BWS). The …
Diagnostic interpretation of array data using public databases and internet sources
N De Leeuw, T Dijkhuizen, JY Hehir‐Kwa… - Human …, 2012 - Wiley Online Library
The range of commercially available array platforms and analysis software packages is
expanding and their utility is improving, making reliable detection of copy‐number variants …
expanding and their utility is improving, making reliable detection of copy‐number variants …
Beckwith–Wiedemann and Russell–Silver Syndromes: From new molecular insights to the comprehension of imprinting regulation
Beckwith–Wiedemann and Russell–Silver Syndromes: from new mo... : Current Opinion in
Endocrinology, Diabetes and Obesity Beckwith–Wiedemann and Russell–Silver Syndromes: from …
Endocrinology, Diabetes and Obesity Beckwith–Wiedemann and Russell–Silver Syndromes: from …
[HTML][HTML] Up-regulation of 91H promotes tumor metastasis and predicts poor prognosis for patients with colorectal cancer
Q Deng, B He, T Gao, Y Pan, H Sun, Y Xu, R Li, H Ying… - PloS one, 2014 - journals.plos.org
Background Long noncoding RNAs (lncRNAs) play widespread roles in gene regulation
and cellular processes. However, the functional roles of lncRNAs in colorectal cancer (CRC) …
and cellular processes. However, the functional roles of lncRNAs in colorectal cancer (CRC) …
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder associating macroglossia,
abdominal wall defects, visceromegaly, and a high risk of childhood tumor. Molecular …
abdominal wall defects, visceromegaly, and a high risk of childhood tumor. Molecular …
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining …
Abstract At chromosome 11p15. 5, the imprinting centre 1 (IC1) controls the parent of origin-
specific expression of the IGF2 and H19 genes. The 5 kb IC1 region contains multiple target …
specific expression of the IGF2 and H19 genes. The 5 kb IC1 region contains multiple target …
[HTML][HTML] Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus
Abstract Purpose Beckwith–Wiedemann syndrome (BWS) is a developmental disorder
caused by dysregulation of the imprinted gene cluster of chromosome 11p15. 5 and often …
caused by dysregulation of the imprinted gene cluster of chromosome 11p15. 5 and often …