204 related articles for article (PubMed ID: 22615066)
1. Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.
Niederhoffer KY; Peñaherrera M; Pugash D; Rupps R; Arbour L; Tessier F; Choufani S; Zhao C; Manokhina I; Shuman C; Robinson WP; Weksberg R; Boerkoel CF
Am J Med Genet A; 2012 Jul; 158A(7):1662-9. PubMed ID: 22615066
[TBL] [Abstract][Full Text] [Related]
2. Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome.
Choufani S; Ko JM; Lou Y; Shuman C; Fishman L; Weksberg R
Genes (Basel); 2021 Jan; 12(2):. PubMed ID: 33513760
[TBL] [Abstract][Full Text] [Related]
3. Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.
Lim D; Bowdin SC; Tee L; Kirby GA; Blair E; Fryer A; Lam W; Oley C; Cole T; Brueton LA; Reik W; Macdonald F; Maher ER
Hum Reprod; 2009 Mar; 24(3):741-7. PubMed ID: 19073614
[TBL] [Abstract][Full Text] [Related]
4. High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
Baskin B; Choufani S; Chen YA; Shuman C; Parkinson N; Lemyre E; Micheil Innes A; Stavropoulos DJ; Ray PN; Weksberg R
Hum Genet; 2014 Mar; 133(3):321-30. PubMed ID: 24154661
[TBL] [Abstract][Full Text] [Related]
5. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
Russo S; Calzari L; Mussa A; Mainini E; Cassina M; Di Candia S; Clementi M; Guzzetti S; Tabano S; Miozzo M; Sirchia S; Finelli P; Prontera P; Maitz S; Sorge G; Calcagno A; Maghnie M; Divizia MT; Melis D; Manfredini E; Ferrero GB; Pecile V; Larizza L
Clin Epigenetics; 2016; 8():23. PubMed ID: 26933465
[TBL] [Abstract][Full Text] [Related]
6. Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
Lee BH; Kim GH; Oh TJ; Kim JH; Lee JJ; Choi SH; Lee JY; Kim JM; Choi IH; Kim YM; Choi JH; Yoo HW
J Hum Genet; 2013 Sep; 58(9):604-10. PubMed ID: 23803580
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. DNA methylation studies on imprinted loci in a male monozygotic twin pair discordant for Beckwith-Wiedemann syndrome.
Tierling S; Souren NY; Reither S; Zang KD; Meng-Hentschel J; Leitner D; Oehl-Jaschkowitz B; Walter J
Clin Genet; 2011 Jun; 79(6):546-53. PubMed ID: 20618351
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome.
Smith AC; Rubin T; Shuman C; Estabrooks L; Aylsworth AS; McDonald MT; Steele L; Ray PN; Weksberg R
Cytogenet Genome Res; 2006; 113(1-4):313-7. PubMed ID: 16575195
[TBL] [Abstract][Full Text] [Related]
12. Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2.
Duffy KA; Hathaway ER; Klein SD; Ganguly A; Kalish JM
Cold Spring Harb Mol Case Stud; 2021 Dec; 7(6):. PubMed ID: 34697083
[TBL] [Abstract][Full Text] [Related]
13. Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome.
Kim HY; Shin CH; Lee YA; Shin CH; Kim GH; Ko JM
Ann Lab Med; 2022 Nov; 42(6):668-677. PubMed ID: 35765875
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
Soejima H; Higashimoto K
J Hum Genet; 2013 Jul; 58(7):402-9. PubMed ID: 23719190
[TBL] [Abstract][Full Text] [Related]
16. Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome.
Lin HY; Chuang CK; Tu RY; Fang YY; Su YN; Chen CP; Chang CY; Liu HC; Chu TH; Niu DM; Lin SP
Mol Genet Metab; 2016 Sep; 119(1-2):8-13. PubMed ID: 27436784
[TBL] [Abstract][Full Text] [Related]
17. A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.
Jurkiewicz D; Kugaudo M; Skórka A; Śmigiel R; Smyk M; Ciara E; Chrzanowska K; Krajewska-Walasek M
Am J Med Genet A; 2017 Jan; 173(1):72-78. PubMed ID: 27612309
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report.
Lekszas C; Nanda I; Vona B; Böck J; Ashrafzadeh F; Donyadideh N; Ebrahimzadeh F; Ahangari N; Maroofian R; Karimiani EG; Haaf T
BMC Med Genomics; 2019 Jun; 12(1):83. PubMed ID: 31174542
[TBL] [Abstract][Full Text] [Related]
20. Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.
Maeda T; Higashimoto K; Jozaki K; Yatsuki H; Nakabayashi K; Makita Y; Tonoki H; Okamoto N; Takada F; Ohashi H; Migita M; Kosaki R; Matsubara K; Ogata T; Matsuo M; Hamasaki Y; Ohtsuka Y; Nishioka K; Joh K; Mukai T; Hata K; Soejima H
Genet Med; 2014 Dec; 16(12):903-12. PubMed ID: 24810686
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
