MeSH Terms
Animals
Beckwith-Wiedemann Syndrome/etiology
DNA Methylation
DNA, Antisense/genetics
Fertilization in Vitro/adverse effects
Genomic Imprinting
Humans
Introns
KCNQ Potassium Channels
KCNQ1 Potassium Channel
Membrane Proteins
Odds Ratio
Poisson Distribution
Potassium Channels/genetics
Potassium Channels, Voltage-Gated
RNA, Long Noncoding
RNA, Untranslated/genetics
Risk
Risk Assessment
Chemicals
DNA, Antisense
KCNQ Potassium Channels
KCNQ1 Potassium Channel
KCNQ1 protein, human
KCNQ1OT1 RNA
KCNQ1OT1 long non-coding RNA, human
Membrane Proteins
Potassium Channels
Potassium Channels, Voltage-Gated
RNA, Long Noncoding
RNA, Untranslated
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Gicquel Christine
Gaston Véronique
Mandelbaum Jacqueline
Siffroi Jean-Pierre
Flahault Antoine
Le Bouc Yves
References (23)
23 references, click to expand
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Epigenetic change in IGF2R is associated with fetal overgrowth after sheep embryo culture.
Nat Genet. 2001 Feb;27(2):153-4
PMID: 11175780
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Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome.
Horm Res. 2000;54(1):1-5
PMID: 11182628
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Genomic imprinting: parental influence on the genome.
Nat Rev Genet. 2001 Jan;2(1):21-32
PMID: 11253064
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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 Jun;9(6):409-18
PMID: 11436121
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Epigenetic instability in ES cells and cloned mice.
Science. 2001 Jul 6;293(5527):95-7
PMID: 11441181
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Perinatal outcome of pregnancy after GnRH antagonist (ganirelix) treatment during ovarian stimulation for conventional IVF or ICSI: a preliminary report.
Hum Reprod. 2001 Aug;16(8):1588-91
PMID: 11473947
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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 U S A. 1999 Jul 6;96(14):8064-9
PMID: 10393948
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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 Dec 15;10(26):2989-3000
PMID: 11751681
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Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects.
Am J Hum Genet. 2002 Mar;70(3):604-11
PMID: 11813134
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Intracytoplasmic sperm injection may increase the risk of imprinting defects.
Am J Hum Genet. 2002 Jul;71(1):162-4
PMID: 12016591
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Chromatin modification and epigenetic reprogramming in mammalian development.
Nat Rev Genet. 2002 Sep;3(9):662-73
PMID: 12209141
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Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1.
Nat Genet. 2002 Nov;32(3):426-31
PMID: 12410230
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Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19.
Am J Hum Genet. 2003 Jan;72(1):156-60
PMID: 12439823
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Beckwith-Wiedemann syndrome and assisted reproduction technology (ART).
J Med Genet. 2003 Jan;40(1):62-4
PMID: 12525545
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Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection.
Am J Hum Genet. 2003 Jan;72(1):218-9
PMID: 12549484
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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 Mar 1;10(5):467-76
PMID: 11181570
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Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
J Med Genet. 2000 Dec;37(12):921-6
PMID: 11106355
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Large offspring syndrome in cattle and sheep.
Rev Reprod. 1998 Sep;3(3):155-63
PMID: 9829550
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Nuclear cloning and epigenetic reprogramming of the genome.
Science. 2001 Aug 10;293(5532):1093-8
PMID: 11498580
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Beckwith-Wiedemann syndrome: imprinting in clusters revisited.
J Clin Invest. 2000 Feb;105(3):247-52
PMID: 10675349
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Study of DNA-methylation patterns at chromosome 15q11-q13 in children born after ICSI reveals no imprinting defects.
Mol Hum Reprod. 2000 Nov;6(11):1049-53
PMID: 11044469
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LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids.
Hum Mol Genet. 1999 Jul;8(7):1209-17
PMID: 10369866
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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 U S A. 1999 Apr 27;96(9):5203-8
PMID: 10220444