Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement …

F Brioude, JM Kalish, A Mussa, AC Foster… - Nat Rev …, 2018 - openaccess.sgul.ac.uk
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

Neuroblastoma: paradigm for precision medicine

MS Irwin, JR Park - Pediatric Clinics, 2015 - pediatric.theclinics.com
Neuroblastoma (NB), the most common extracranial tumor of childhood, is a cancer of
primordial neural crest cells that give rise to sympathetic neural ganglia and adrenal …

The history of cancer epigenetics

AP Feinberg, B Tycko - Nature Reviews Cancer, 2004 - nature.com
Since its discovery in 1983, the epigenetics of human cancer has been in the shadows of
human cancer genetics. But this area has become increasingly visible with a growing …

[图书][B] Pathology and genetics of tumours of soft tissue and bone

CDM Fletcher, KK Unni, F Mertens - 2002 - books.google.com
This WHO classification covers tumors of soft tissue and bone including inherited tumor
syndromes. Each entity is extensively discussed with information on clinicopathological …

Phenotypic plasticity and the epigenetics of human disease

AP Feinberg - Nature, 2007 - nature.com
It is becoming clear that epigenetic changes are involved in human disease as well as
during normal development. A unifying theme of disease epigenetics is defects in …

DNA hypomethylation and human diseases

AS Wilson, BE Power, PL Molloy - … et Biophysica Acta (BBA)-Reviews on …, 2007 - Elsevier
Changes in human DNA methylation patterns are an important feature of cancer
development and progression and a potential role in other conditions such as …

Surveillance recommendations for children with overgrowth syndromes and predisposition to Wilms tumors and hepatoblastoma

JM Kalish, L Doros, LJ Helman, RC Hennekam… - Clinical Cancer …, 2017 - AACR
A number of genetic syndromes have been linked to increased risk for Wilms tumor (WT),
hepatoblastoma (HB), and other embryonal tumors. Here, we outline these rare syndromes …

Long noncoding RNAs: emerging stars in gene regulation, epigenetics and human disease

A Bhan, SS Mandal - ChemMedChem, 2014 - Wiley Online Library
Noncoding RNAs (ncRNAs) are classes of transcripts that are encoded by the genome and
transcribed but never get translated into proteins. Though not translated into proteins …

Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19

MR DeBaun, EL Niemitz, AP Feinberg - The American Journal of Human …, 2003 - cell.com
Recent data in humans and animals suggest that assisted reproductive technology (ART)
might affect the epigenetics of early embryogenesis and might cause birth defects. We report …

The epidemiology of hepatoblastoma

LG Spector, J Birch - Pediatric blood & cancer, 2012 - Wiley Online Library
Few causes of hepatoblastoma have been conclusively identified, mainly due to the extreme
rarity of the disease. Inherited conditions including Familial Adenomatous Polyposis and …