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Taiwanese Journal of Obstetrics and Gynecology
Volume 46, Issue 2
, Pages 96-102
, June 2007
Syndromes and Disorders Associated with Omphalocele (I): Beckwith–Wiedemann Syndrome
References
- . Clinical features and natural history of Beckwith–Wiedemann syndrome: presentation of 74 new cases . Clin Genet . 1994;46:168–174
-
.
Beckwith– Wiedemann syndrome demonstrates a role for epigenetic control of normal development
.
Hum Mol Genet
. 2003;12(Suppl 1):R61–R68
-
.
Beckwith–Wiedemann syndrome
.
Am J Med Genet
. 2005;137C:12–23
- . Tumour-suppressor activity of H19 RNA . Nature . 1993;365:764–767
- . The protein CTCF is required for the enhancer blocking activity of vertebrate insulators . Cell . 1999;98:387–396
- . Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith–Wiedemann syndrome chromosomal rearrangements . Nat Genet . 1997;15:181–185
-
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith–Wiedemann syndrome
.
Proc Natl Acad Sci USA
. 1999;96:8064–8069
-
.
Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith–Wiedemann syndrome and is independent of insulin-like growth factor II imprinting
.
Proc Natl Acad Sci USA
. 1999;96:5203–5208
- Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith– Wiedemann syndrome . Eur J Hum Genet . 2001;9:409–418
- . Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS . Hum Mol Genet . 2001;10:467–476
- . Cloning of p57(KIP2), a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution . Genes Dev . 1995;9:639–649
- An imprinted gene p57(KIP2) is mutated in Beckwith–Wiedemann syndrome . Nat Genet . 1996;14:171–173
- Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith–Wiedemann syndrome (BWS) provides a novel genotype–phenotype correlation . J Med Genet . 1999;36:518–523
- Imprinting status of 11p15 genes in Beckwith–Wiedemann syndrome patients with CDKN1C mutations . Genomics . 2001;74:370–376
- Paradoxical NSD1 mutations in Beckwith–Wiedemann syndrome and 11p15 anomalies in Sotos syndrome . Am J Hum Genet . 2004;74:715–720
- A rapid microarray based whole genome analysis for detection of uniparental disomy . Hum Mutat . 2005;26:153–159
- . Chromosome-wide identification of novel imprinted genes using microarrays and uniparental disomies . Nucleic Acids Res . 2006;34:e88
- . Molecular diagnosis of Beckwith–Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reaction . Genet Med . 2006;8:628–634
-
Epigenotype– phenotype correlations in Beckwith–Wiedemann syndrome
.
J Med Genet
. 2000;37:921–926
- Tumor development in the Beckwith–Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1 . Hum Mol Genet . 2001;10:2989–3000
- . Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith–Wiedemann syndrome with cancer and birth defects . Am J Hum Genet . 2002;70:604–611
- Molecular sub-types and phenotypic expression of Beckwith–Wiedemann syndrome . Eur J Hum Genet . 2005;13:1025–1032
- New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith–Wiedemann syndrome . Cytogenet Genome Res . 2006;113:313–317
- Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome . Hum Mol Genet . 2002;11:1317–1325
- . Genomic imprinting, monozygous twinning, and X inactivation . Lancet . 1991;337:1288
- . Association of in vitro fertilization with Beckwith–Wiedemann syndrome and epi-genetic alterations of LIT1 and H19 . Am J Hum Genet . 2003;72:156–160
- . In vitro fertilization may increase the risk of Beckwith–Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene . Am J Hum Genet . 2003;72:1338–1341
-
Beckwith– Wiedemann syndrome and assisted reproduction technology (ART)
.
J Med Genet
. 2003;40:62–64
- . Beckwith– Wiedemann syndrome and IVF: a case-control study . Am J Hum Genet . 2004;75:526–528
-
The epigenetic imprinting defect of patients with Beckwith–Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region
.
J Med Genet
. 2006;43:902–907
- Assisted reproductive therapies and imprinting disorders: a preliminary British survey . Hum Reprod . 2006;21:1009–1011
- . Association between Beckwith–Wiedemann syndrome and assisted reproductive technology: a case series of 19 patients . Fertil Steril . 2005;83:349–354
- . Epigenetics and assisted reproductive technology . Fertil Steril . 2006;85:269
- . Regulation of S-adenosyl methionine synthesis in the mouse embryo . Life Sci . 1989;44:1601–1609
- . Maternal epigenetics and methyl supplements affect agouti gene expression in Avy/a mice . FASEB J . 1998;12:949–957
- . Epigenetics and assisted reproductive technology: a call for investigation . Am J Hum Genet . 2004;74:599–609
-
.
Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples
.
J Med Genet
. 2005;42:289–291
- . Prenatal identification of fetal overgrowth, abdominal wall defect, and neural tube defect in pregnancies achieved by assisted reproductive technology . Prenat Diagn . 2004;24:396–398
- . Prenatal diagnosis of Beckwith–Wiedemann syndrome . Prenat Diagn . 2005;25:879–884
-
.
Beckwith–Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives
.
Pediatr Develop Pathol
. 2005;8:287–304
- . Tumours and hemihypertrophy associated with Wiedemann–Beckwith syndrome . Eur J Pediatr . 1983;141:129
- . Risk of cancer during the first four years of life in children from the Beckwith–Wiedemann syndrome registry . J Pediatr . 1998;132:398–400
- . Prenatally detected cystic adrenal mass associated with Beckwith–Wiedemann syndrome . Fetal Diagn Ther . 2004;19:465–469
- . Bilateral hemorrhagic adrenal cysts in an incomplete form of Beckwith–Wiedemann syndrome: MRI and prenatal US findings . Abdom Imaging . 2005;30:786–789
- . Prenatal diagnosis of fetal bilateral adrenal carcinoma . Ultrasound Obstet Gynecol . 2005;26:669–671
- . Prenatal detection of a congenital pancreatic cyst and Beckwith–Wiedemann syndrome . Prenat Diagn . 1997;17:276–280
- . Antenatal manifestation of congenital pancreatoblastoma in a fetus with Beckwith–Wiedemann syndrome . Prenat Diagn . 2003;23:292–294
- . Unusual prenatal presentation of Beckwith–Wiedemann syndrome . Prenat Diagn . 2004;24:501–503
- . Nonimmune fetal hydrops and placentomegaly: diagnosis of familial Wiedemann–Beckwith syndrome with trisomy 11p15 using FISH . Am J Med Genet . 1996;62:145–149
- . Placentomegaly with massive hydrops of placental stem villi, diploid DNA content, and fetal omphaloceles: Possible association with Beckwith–Wiedemann syndrome . Hum Pathol . 1991;22:591–597
- . Beckwith–Wiedemann syndrome, placental abnormalities, and gestational proteinuric hypertension . Obstet Gynecol . 1994;83:813–817
- . Sonographic appearance of placental villous hydrops associated with Beckwith–Wiedemann syndrome . J Ultrasound Med . 1995;14:61–64
- . Placental vascular anomaly with diffuse mesenchymal stem villous hyperplasia: a new clinicopathological entity? . Pathol Res Pract . 1991;187:324–328
- . Angiomatous malformation of placental chorionic stem vessels and pseudo-partial molar placentas: report of five cases . Pediatr Pathol . 1993;13:621–633
- . Pregnancy with concomitant chorangioma and placental vascular malformation with mesenchymal hyper-plasia . Hum Reprod . 1997;12:2553–2556
- . Perinatal features associated with placental mesenchymal dysplasia . Placenta . 1997;18:701–706
-
.
Placental mesenchymal dysplasia
.
Arch Pathol Lab Med
. 2007;131:131–137
- . Placental mesenchymal dysplasia associated with fetal aneuploidy . Prenat Diagn . 2005;25:187–192
- . Pseudo-partial moles: placental stem vessel hydrops and the association with Beckwith–Wiedemann syndrome and complete moles . Histopathology . 2001;39:447–454
-
.
Placental mesenchymal dysplasia: a report of four cases with differentiation from partial hydatidiform mole
.
Aust NZ J Obstet Gynaecol
. 2003;43:475–479
- . Placental mesenchymal dysplasia is associated with high rates of intrauterine growth restriction and fetal demise: a report of 11 new cases and a review of the literature . Am J Clin Pathol . 2006;126:67–78
- . Wiedemann–Beckwith syndrome: further prenatal characterization of the condition . Am J Med Genet . 2002;107:209–213
-
Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype–genotype correlations in Beckwith–Wiedemann syndrome
.
J Med Genet
. 2007;44:257–263
PII: S1028-4559(07)60002-3
doi: 10.1016/S1028-4559(07)60002-3
© 2007 Taiwan Association of Obstetric & Gynecology. Published by Elsevier Inc. All rights reserved.
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Taiwanese Journal of Obstetrics and Gynecology
Volume 46, Issue 2
, Pages 96-102
, June 2007
