Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association

ME Pierpont, M Brueckner, WK Chung, V Garg… - Circulation, 2018 - Am Heart Assoc
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

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 …

[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 …

[HTML][HTML] An evolutionarily conserved function of the Drosophila insulin receptor and insulin-like peptides in growth control

W Brogiolo, H Stocker, T Ikeya, F Rintelen… - Current biology, 2001 - cell.com
Background: Size regulation is fundamental in developing multicellular organisms and
occurs through the control of cell number and cell size. Studies in Drosophila have identified …

Beckwith–wiedemann syndrome

R Weksberg, C Shuman, JB Beckwith - European journal of human …, 2010 - nature.com
Beckwith–Wiedemann syndrome (BWS) is a model disorder for the study of imprinting,
growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an …

Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups

SM Maas, F Vansenne, DJM Kadouch… - American journal of …, 2016 - Wiley Online Library
Patients with Beckwith–Wiedemann syndrome (BWS) have an increased risk to develop
cancer in childhood, especially Wilms tumor and hepatoblastoma. The risk varies depending …

Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith–Wiedemann syndrome

P Zhang, NJ Liégeois, C Wong, M Finegold, H Hou… - Nature, 1997 - nature.com
Mice lacking the imprinted Cdk inhibitor p57KIP2 have altered cell proliferation and
differentiation, leading to abdominal muscle defects; cleft palate; endochondral bone …

[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 …

Beckwith–Wiedemann syndrome

S Choufani, C Shuman… - American Journal of …, 2010 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder characterized by
overgrowth, tumor predisposition, and congenital malformations. Approximately 85% of …

Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry

MR DeBaun, MA Tucker - The Journal of pediatrics, 1998 - Elsevier
To determine the incidence and relative risk (RR) of cancer in children with Beckwith-
Wiedemann syndrome (BWS), children with BWS were followed up from birth until death …