The clinical phenotype of mosaicism for genome‐wide paternal uniparental disomy: Two new reports

A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith–Wiedemann syndrome

1999 • 405 citations

Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples

2005 • 306 citations

Beckwith–Wiedemann syndrome

2005 • 296 citations

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

2005 • 265 citations

Assisted reproductive therapies and imprinting disorders—a preliminary British survey

2005 • 260 citations

The epigenetic imprinting defect of patients with Beckwith--Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

2006 • 224 citations

A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.

1997 • 163 citations

Perinatal features associated with placental mesenchymal dysplasia

1997 • 161 citations

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

2006 • 159 citations

Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families

2004 • 153 citations

A Single-Tube PCR Test for the Diagnosis of Angelman and Prader-Willi Syndrome Based on Allelic Methylation Differences at the SNRPN Locus

1997 • 145 citations

Pseudo‐partial moles: placental stem vessel hydrops and the association with Beckwith–Wiedemann syndrome and complete moles

2001 • 135 citations

Epigenetic alteration at the DLK1-GTL2 imprinted domain in human neoplasia: analysis of neuroblastoma, phaeochromocytoma and Wilms' tumour

2005 • 133 citations

Postzygotic diploidization of triploids as a source of unusual cases of mosaicism, chimerism and twinning

2003 • 113 citations

Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas

2003 • 111 citations

Placental mesenchymal dysplasia associated with fetal aneuploidy

2005 • 106 citations

Chimera and other fertilization errors

2006 • 93 citations

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

1997 • 93 citations

Complete hydatidiform mole and normal live birth: a novel case of confined placental mosaicism: Case report

2002 • 88 citations

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect

2004 • 80 citations

Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies

2006 • 78 citations

Origin and outcome of pregnancies affected by androgenetic/biparental chimerism

2006 • 75 citations

Twin pregnancy with a chimeric androgenetic and biparental placenta in one twin displaying placental mesenchymal dysplasia phenotype

2005 • 75 citations

Seven cases of Wiedemann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11

1998 • 62 citations

Epigenetic analysis of HIC1, CASP8, FLIP, TSP1, DCR1, DCR2, DR4, DR5, KvDMR1, H19 and preferential 11p15.5 maternal-allele loss in von Hippel-Lindau and sporadic phaeochromocytomas

2005 • 59 citations

Disruption of parental‐specific expression of imprinted genes in uniparental fetuses

2006 • 41 citations

Genome-wide loss of maternal alleles in a nephrogenic rest and Wilms' tumour from a BWS patient

1995 • 38 citations

Relaxation of Insulin-like Growth Factor 2 Imprinting and Discordant Methylation at KvDMR1 in Two First Cousins Affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber Syndromes

2000 • 33 citations

Pheochromocytoma-associated syndromes: genes, proteins and functions of RET, VHL and SDHx

2005 • 31 citations

Blood group chimerism

2006 • 25 citations

Successful laparoscopic operation of bilateral pheochromocytoma in a patient with Beckwith-Wiedemann syndrome

2002 • 22 citations

Beckwith-Wiedemann syndrome and bilateral adrenal pheochromocytoma: sonography and MRI findings

2005 • 10 citations

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