Lin28a transgenic mice manifest size and puberty phenotypes identified in human genetic association studies

H Zhu, S Shah, N Shyh-Chang, G Shinoda… - Nature …, 2010 - nature.com
Recently, genome-wide association studies have implicated the human LIN28B locus in
regulating height and the timing of menarche,,,,. LIN28B and its homolog LIN28A are …

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 …

[HTML][HTML] Imprinting disorders and assisted reproductive technology

S Manipalviratn, A DeCherney, J Segars - Fertility and sterility, 2009 - Elsevier
OBJECTIVE: To review currently available literature on the association between imprinting
disorders (Beckwith-Wiedemann syndrome [BWS], Angelman syndrome [AS] and …

Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour

RH Scott, CA Stiller, L Walker… - Journal of medical genetics, 2006 - jmg.bmj.com
Wilms tumour has been reported in association with over 50 different clinical conditions and
several abnormal constitutional karyotypes. Conclusive evidence of an increased risk of …

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome

R Weksberg, C Shuman, O Caluseriu… - Human Molecular …, 2002 - academic.oup.com
Beckwith–Wiedemann syndrome (BWS) presents with visceromegaly, macroglossia, tumor
predisposition and other congenital abnormalities, and is usually associated with …

Hyperinsulinism in infancy: from basic science to clinical disease

MJ Dunne, KE Cosgrove, RM Shepherd… - Physiological …, 2004 - journals.physiology.org
Dunne, Mark J., Karen E. Cosgrove, Ruth M. Shepherd, Albert Aynsley-Green, and Keith J.
Lindley. Hyperinsulinism in Infancy: From Basic Science to Clinical Disease. Physiol Rev 84 …

Beckwith–wiedemann syndrome

R Weksberg, C Shuman… - American Journal of …, 2005 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome
associated with an increased risk for embryonal tumor development. BWS provides an ideal …

Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith–Wiedemann and Simpson–Golabi–Behmel syndromes

J Eggenschwiler, T Ludwig, P Fisher… - Genes & …, 1997 - genesdev.cshlp.org
In mice, the imprinted Igf2 gene (expressed from the paternal allele), which encodes a
growth-promoting factor (IGF-II), is linked closely to the reciprocally imprinted H19 locus on …

Risk of tumorigenesis in overgrowth syndromes: a comprehensive review

P Lapunzina - American Journal of Medical Genetics Part C …, 2005 - Wiley Online Library
Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders in which the
main characteristic is that either weight, height, or head circumference is 2–3 standard …

Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance

F Brioude, A Lacoste, I Netchine, MP Vazquez… - Hormone research in …, 2014 - karger.com
Background: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated
with an increased risk of pediatric tumors. The underlying molecular abnormalities may be …