Molecular findings in Beckwith–Wiedemann syndrome
S Choufani, C Shuman… - American Journal of …, 2013 - Wiley Online Library
Abstract Our understanding of Beckwith–Wiedemann syndrome (BWS) has recently been
enhanced by advances in its molecular characterization. These advances have further …
enhanced by advances in its molecular characterization. These advances have further …
Molecular genetics of Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder characterized by
developmental anomalies, tissue and organ hyperplasia, and an increased risk of …
developmental anomalies, tissue and organ hyperplasia, and an increased risk of …
A case of Beckwith–Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus
M Zollino, D Orteschi, G Marangi… - Journal of medical …, 2010 - jmg.bmj.com
Background Beckwith–Wiedemann syndrome (BWS) is a clinically variable and genetically
heterogeneous disorder, providing evidence that imprinted genes play key roles in the …
heterogeneous disorder, providing evidence that imprinted genes play key roles in the …
Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome
JR Engel, A Smallwood, A Harper… - Journal of medical …, 2000 - jmg.bmj.com
Beckwith-Wiedemann syndrome (BWS) is a model imprinting disorder resulting from
mutations or epigenetic events involving imprinted genes at chromosome 11p15. 5. Thus …
mutations or epigenetic events involving imprinted genes at chromosome 11p15. 5. Thus …
Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndrome
M Alders, A Ryan, M Hodges, J Bliek… - The American Journal of …, 2000 - cell.com
The genetics of Beckwith-Wiedemann syndrome (BWS) is complex and is thought to involve
multiple genes. It is known that three regions on chromosome 11p15 (BWSCR1, BWSCR2 …
multiple genes. It is known that three regions on chromosome 11p15 (BWSCR1, BWSCR2 …
Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome
WN Cooper, A Luharia, GA Evans, H Raza… - European journal of …, 2005 - nature.com
Abstract Beckwith–Wiedemann Syndrome (BWS) results from mutations or epigenetic
events involving imprinted genes at 11p15. 5. Most BWS cases are sporadic and uniparental …
events involving imprinted genes at 11p15. 5. Most BWS cases are sporadic and uniparental …
New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome
AC Smith, T Rubin, C Shuman, L Estabrooks… - … and Genome Research, 2006 - karger.com
Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome demonstrating
heterogeneous molecular alterations of two imprinted domains on chromosome 11p15. The …
heterogeneous molecular alterations of two imprinted domains on chromosome 11p15. The …
Brain abnormalities in patients with Beckwith–Wiedemann syndrome
K Gardiner, D Chitayat, S Choufani… - American Journal of …, 2012 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder with variability in clinical
manifestations and molecular causes. In most cases, patients with BWS have normal …
manifestations and molecular causes. In most cases, patients with BWS have normal …
Beckwith-Wiedemann syndrome: imprinting in clusters revisited
Genomic imprinting, a process that causes genes to be expressed according to their
parental origin, affects a minority of human genes, probably less than 1,000. Nevertheless …
parental origin, affects a minority of human genes, probably less than 1,000. Nevertheless …
Beckwith–Wiedemann syndrome demonstrates a role for epigenetic control of normal development
Abstract The Beckwith–Wiedemann syndrome (BWS) is characterized by somatic
overgrowth and a predisposition to pediatric embryonal tumors. It is associated with genetic …
overgrowth and a predisposition to pediatric embryonal tumors. It is associated with genetic …
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