153 related articles for article (PubMed ID: 30778172)
1. Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment.
Beygo J; Bürger J; Strom TM; Kaya S; Buiting K
Eur J Hum Genet; 2019 Jun; 27(6):903-908. PubMed ID: 30778172
[TBL] [Abstract][Full Text] [Related]
2. Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR.
Urakawa T; Ozawa J; Tanaka M; Narusawa H; Matsuoka K; Fukami M; Nagasaki K; Kagami M
Eur J Med Genet; 2023 Jan; 66(1):104671. PubMed ID: 36402267
[TBL] [Abstract][Full Text] [Related]
3. A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome.
Beygo J; Joksic I; Strom TM; Lüdecke HJ; Kolarova J; Siebert R; Mikovic Z; Horsthemke B; Buiting K
Eur J Hum Genet; 2016 Aug; 24(9):1280-6. PubMed ID: 26839037
[TBL] [Abstract][Full Text] [Related]
4. Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.
Dagar V; Hutchison W; Muscat A; Krishnan A; Hoke D; Buckle A; Siswara P; Amor DJ; Mann J; Pinner J; Colley A; Wilson M; Sachdev R; McGillivray G; Edwards M; Kirk E; Collins F; Jones K; Taylor J; Hayes I; Thompson E; Barnett C; Haan E; Freckmann ML; Turner A; White S; Kamien B; Ma A; Mackenzie F; Baynam G; Kiraly-Borri C; Field M; Dudding-Byth T; Algar EM
Clin Epigenetics; 2018 Aug; 10(1):114. PubMed ID: 30165906
[TBL] [Abstract][Full Text] [Related]
5. Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome.
Eßinger C; Karch S; Moog U; Fekete G; Lengyel A; Pinti E; Eggermann T; Begemann M
Clin Epigenetics; 2020 May; 12(1):63. PubMed ID: 32393365
[TBL] [Abstract][Full Text] [Related]
6. Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.
Valente FM; Sparago A; Freschi A; Hill-Harfe K; Maas SM; Frints SGM; Alders M; Pignata L; Franzese M; Angelini C; Carli D; Mussa A; Gazzin A; Gabbarini F; Acurzio B; Ferrero GB; Bliek J; Williams CA; Riccio A; Cerrato F
Genet Med; 2019 Aug; 21(8):1808-1820. PubMed ID: 30635621
[TBL] [Abstract][Full Text] [Related]
7. Paternal 132 bp deletion affecting
Eggermann T; Kraft F; Lausberg E; Ergezinger K; Kunstmann E
J Med Genet; 2021 Mar; 58(3):173-176. PubMed ID: 32447323
[TBL] [Abstract][Full Text] [Related]
8. The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.
Chiesa N; De Crescenzo A; Mishra K; Perone L; Carella M; Palumbo O; Mussa A; Sparago A; Cerrato F; Russo S; Lapi E; Cubellis MV; Kanduri C; Cirillo Silengo M; Riccio A; Ferrero GB
Hum Mol Genet; 2012 Jan; 21(1):10-25. PubMed ID: 21920939
[TBL] [Abstract][Full Text] [Related]
9. Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.
Demars J; Shmela ME; Khan AW; Lee KS; Azzi S; Dehais P; Netchine I; Rossignol S; Le Bouc Y; El-Osta A; Gicquel C
J Med Genet; 2014 Aug; 51(8):502-11. PubMed ID: 24996904
[TBL] [Abstract][Full Text] [Related]
10. Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprinting.
Engemann S; Strödicke M; Paulsen M; Franck O; Reinhardt R; Lane N; Reik W; Walter J
Hum Mol Genet; 2000 Nov; 9(18):2691-706. PubMed ID: 11063728
[TBL] [Abstract][Full Text] [Related]
11. 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.
Sperandeo MP; Ungaro P; Vernucci M; Pedone PV; Cerrato F; Perone L; Casola S; Cubellis MV; Bruni CB; Andria G; Sebastio G; Riccio A
Am J Hum Genet; 2000 Mar; 66(3):841-7. PubMed ID: 10712200
[TBL] [Abstract][Full Text] [Related]
12. Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.
Bedeschi MF; Calvello M; Paganini L; Pezzani L; Baccarin M; Fontana L; Sirchia SM; Guerneri S; Canazza L; Leva E; Colombo L; Lalatta F; Mosca F; Tabano S; Miozzo M
BMC Med Genet; 2017 Oct; 18(1):115. PubMed ID: 29047350
[TBL] [Abstract][Full Text] [Related]
13. A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.
Grosvenor SE; Davies JH; Lever M; Sillibourne J; Mackay DJG; Temple IK
Am J Med Genet A; 2022 Jun; 188(6):1896-1903. PubMed ID: 35266280
[TBL] [Abstract][Full Text] [Related]
14. Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.
Bliek J; Maas SM; Ruijter JM; Hennekam RC; Alders M; Westerveld A; Mannens MM
Hum Mol Genet; 2001 Mar; 10(5):467-76. PubMed ID: 11181570
[TBL] [Abstract][Full Text] [Related]
15. Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains.
Eggermann T; Begemann M; Pfeiffer L
Clin Epigenetics; 2021 Feb; 13(1):30. PubMed ID: 33541417
[TBL] [Abstract][Full Text] [Related]
16. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
Engel JR; Smallwood A; Harper A; Higgins MJ; Oshimura M; Reik W; Schofield PN; Maher ER
J Med Genet; 2000 Dec; 37(12):921-6. PubMed ID: 11106355
[TBL] [Abstract][Full Text] [Related]
17. Blocked transcription through KvDMR1 results in absence of methylation and gene silencing resembling Beckwith-Wiedemann syndrome.
Singh VB; Sribenja S; Wilson KE; Attwood KM; Hillman JC; Pathak S; Higgins MJ
Development; 2017 May; 144(10):1820-1830. PubMed ID: 28428215
[TBL] [Abstract][Full Text] [Related]
18. Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi.
Paganini L; Carlessi N; Fontana L; Silipigni R; Motta S; Fiori S; Guerneri S; Lalatta F; Cereda A; Sirchia S; Miozzo M; Tabano S
Epigenetics; 2015; 10(7):643-9. PubMed ID: 26061650
[TBL] [Abstract][Full Text] [Related]
19. Imprinting disruption of the CDKN1C/KCNQ1OT1 domain: the molecular mechanisms causing Beckwith-Wiedemann syndrome and cancer.
Higashimoto K; Soejima H; Saito T; Okumura K; Mukai T
Cytogenet Genome Res; 2006; 113(1-4):306-12. PubMed ID: 16575194
[TBL] [Abstract][Full Text] [Related]
20. Epigenetics, genomic imprinting and assisted reproductive technology.
Le Bouc Y; Rossignol S; Azzi S; Steunou V; Netchine I; Gicquel C
Ann Endocrinol (Paris); 2010 May; 71(3):237-8. PubMed ID: 20362968
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
