195 related articles for article (PubMed ID: 36402267)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.
Tenorio J; Romanelli V; Martin-Trujillo A; Fernández GM; Segovia M; Perandones C; Pérez Jurado LA; Esteller M; Fraga M; Arias P; Gordo G; Dapía I; Mena R; Palomares M; Pérez de Nanclares G; Nevado J; García-Miñaur S; Santos-Simarro F; Martinez-Glez V; Vallespín E; ; Monk D; Lapunzina P
Am J Med Genet A; 2016 Oct; 170(10):2740-9. PubMed ID: 27480579
[TBL] [Abstract][Full Text] [Related]
7. Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study.
Wang R; Xiao Y; Li D; Hu H; Li X; Ge T; Yu R; Wang Y; Zhang T
Ital J Pediatr; 2020 Apr; 46(1):55. PubMed ID: 32349794
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.
Weksberg R; Nishikawa J; Caluseriu O; Fei YL; Shuman C; Wei C; Steele L; Cameron J; Smith A; Ambus I; Li M; Ray PN; Sadowski P; Squire J
Hum Mol Genet; 2001 Dec; 10(26):2989-3000. PubMed ID: 11751681
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. (Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome.
Fontana L; Bedeschi MF; Cagnoli GA; Costanza J; Persico N; Gangi S; Porro M; Ajmone PF; Colapietro P; Santaniello C; Crippa M; Sirchia SM; Miozzo M; Tabano S
Mol Genet Genomic Med; 2020 Sep; 8(9):e1386. PubMed ID: 32627967
[TBL] [Abstract][Full Text] [Related]
14. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.
Gaston V; Le Bouc Y; Soupre V; Burglen L; Donadieu J; Oro H; Audry G; Vazquez MP; Gicquel C
Eur J Hum Genet; 2001 Jun; 9(6):409-18. PubMed ID: 11436121
[TBL] [Abstract][Full Text] [Related]
15. Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene.
Kaltenbach S; Capri Y; Rossignol S; Denjoy I; Soudée S; Aboura A; Baumann C; Verloes A
Clin Genet; 2013 Jul; 84(1):78-81. PubMed ID: 23061425
[TBL] [Abstract][Full Text] [Related]
16. No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome.
Boonen SE; Hahnemann JM; Mackay D; Tommerup N; Brøndum-Nielsen K; Tümer Z; Grønskov K
Eur J Hum Genet; 2012 Jan; 20(1):119-21. PubMed ID: 21863059
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.
Fontana L; Tabano S; Maitz S; Colapietro P; Garzia E; Gerli AG; Sirchia SM; Miozzo M
Int J Mol Sci; 2021 Mar; 22(7):. PubMed ID: 33810554
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]