Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.

RE Slatter, M Elliott, K Welham, M Carrera… - Journal of medical …, 1994 - jmg.bmj.com
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome with variable
expression. The major features are anterior abdominal wall defects, macroglossia, and …

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.

D Catchpoole, WW Lam, D Valler, IK Temple… - Journal of medical …, 1997 - jmg.bmj.com
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome associated
with a characteristic pattern of visceromegaly and predisposition to childhood tumours. BWS …

Severe presentation of Beckwith–Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15

AC Smith, C Shuman, D Chitayat… - American Journal of …, 2007 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by
macrosomia, macroglossia, omphalocele, hemihyperplasia, and increased tumor risk. BWS …

[HTML][HTML] Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

V Romanelli, HNM Meneses, L Fernández… - European journal of …, 2011 - nature.com
Beckwith–Wiedemann syndrome (BWS) is a phenotypically and genotypically
heterogeneous overgrowth syndrome characterized by somatic overgrowth, macroglossia …

Molecular characterization of cytogenetic alterations associated with the Beckwith—Wiedemann syndrome (BWS) phenotype refines the localization and suggests the …

R Weksberg, I Teshima, BRG Williams… - Human molecular …, 1993 - academic.oup.com
To define the region of 11p15 involved in Beckwlth–Wiedemann syndrome (BWS), we have
carried out a molecular genetic analysis of six patients with features of BWS and …

Wiedemann‐Beckwith syndrome: further prenatal characterization of the condition

O Reish, I Lerer, A Amiel, E Heyman… - American journal of …, 2002 - Wiley Online Library
We describe three unrelated cases of Wiedemann‐Beckwith syndrome (WBS). Two of them
were diagnosed postnatally while the third was detected during pregnancy that resulted in …

Allelic methylation of H19 and IGF2 in the Beckwith—Wiedemann syndrome

W Reik, K W. Brown, R E. Slatter, P Sartor… - Human molecular …, 1994 - academic.oup.com
Abstract Beckwith-Wiedemann syndrome (BWS) Is a congenital overgrowth syndrome with
associated embryonal tumours. Most BWS cases are sporadic but familial cases occur In …

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome

B Baskin, S Choufani, Y Chen, C Shuman, N Parkinson… - Human Genetics, 2014 - Springer
Abstract Beckwith–Wiedemann syndrome (BWS), an overgrowth and tumor predisposition
syndrome is clinically heterogeneous. Its variable presentation makes molecular diagnosis …

[HTML][HTML] Mitotic recombination and uniparental disomy in Beckwith–Wiedemann syndrome

WN Cooper, R Curley, F Macdonald, ER Maher - Genomics, 2007 - Elsevier
Beckwith–Wiedemann syndrome (BWS) is a model human imprinting disorder resulting from
altered activity of one or more genes in the 11p15. 5 imprinted gene cluster. Approximately …

Clinical features and natural history of Beckwith‐Wiedemann syndrome: presentation of 74 new cases

M Elliott, R Bayly, T Cole, IK Temple… - Clinical genetics, 1994 - Wiley Online Library
Beckwith‐Wiedemann syndrome (BWS) is a congenital overgrowth syndrome with variable
expression. To define the range and frequency of complications in BWS, we have studied a …