Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association
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 …
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 …
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 …
[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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
Wiedemann syndrome (BWS), children with BWS were followed up from birth until death …