179 related articles for article (PubMed ID: 27255538)
1. Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome.
Brioude F; Nicolas C; Marey I; Gaillard S; Bernier M; Das Neves C; Le Bouc Y; Touraine P; Netchine I
Horm Res Paediatr; 2016; 86(3):206-211. PubMed ID: 27255538
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine.
Robbins KM; Chen Z; Wells KD; Rivera RM
J Biomed Sci; 2012 Nov; 19(1):95. PubMed ID: 23153226
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Case Report: Consecutive Adrenal Cushing's Syndrome and Cushing's Disease in a Patient With Somatic
Detomas M; Altieri B; Schlötelburg W; Appenzeller S; Schlaffer S; Coras R; Schirbel A; Wild V; Kroiss M; Sbiera S; Fassnacht M; Deutschbein T
Front Endocrinol (Lausanne); 2021; 12():731579. PubMed ID: 34489873
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.
Mussa A; Russo S; De Crescenzo A; Freschi A; Calzari L; Maitz S; Macchiaiolo M; Molinatto C; Baldassarre G; Mariani M; Tarani L; Bedeschi MF; Milani D; Melis D; Bartuli A; Cubellis MV; Selicorni A; Cirillo Silengo M; Larizza L; Riccio A; Ferrero GB
Eur J Hum Genet; 2016 Feb; 24(2):183-90. PubMed ID: 25898929
[TBL] [Abstract][Full Text] [Related]
10. Epigenetic anomalies in childhood growth disorders.
Netchine I; Rossignol S; Azzi S; Le Bouc Y
Nestle Nutr Inst Workshop Ser; 2013; 71():65-73. PubMed ID: 23502140
[TBL] [Abstract][Full Text] [Related]
11. Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients.
Rovina D; La Vecchia M; Cortesi A; Fontana L; Pesant M; Maitz S; Tabano S; Bodega B; Miozzo M; Sirchia SM
Sci Rep; 2020 May; 10(1):8275. PubMed ID: 32427849
[TBL] [Abstract][Full Text] [Related]
12. Recurrent gain-of-function USP8 mutations in Cushing's disease.
Ma ZY; Song ZJ; Chen JH; Wang YF; Li SQ; Zhou LF; Mao Y; Li YM; Hu RG; Zhang ZY; Ye HY; Shen M; Shou XF; Li ZQ; Peng H; Wang QZ; Zhou DZ; Qin XL; Ji J; Zheng J; Chen H; Wang Y; Geng DY; Tang WJ; Fu CW; Shi ZF; Zhang YC; Ye Z; He WQ; Zhang QL; Tang QS; Xie R; Shen JW; Wen ZJ; Zhou J; Wang T; Huang S; Qiu HJ; Qiao ND; Zhang Y; Pan L; Bao WM; Liu YC; Huang CX; Shi YY; Zhao Y
Cell Res; 2015 Mar; 25(3):306-17. PubMed ID: 25675982
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome.
Diaz-Meyer N; Day CD; Khatod K; Maher ER; Cooper W; Reik W; Junien C; Graham G; Algar E; Der Kaloustian VM; Higgins MJ
J Med Genet; 2003 Nov; 40(11):797-801. PubMed ID: 14627666
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Investigation of (epi)genotype causes and follow-up manifestations in the patients with classical and atypical phenotype of Beckwith-Wiedemann spectrum.
Tüysüz B; Güneş N; Geyik F; Yeşil G; Celkan T; Vural M
Am J Med Genet A; 2021 Jun; 185(6):1721-1731. PubMed ID: 33704912
[TBL] [Abstract][Full Text] [Related]
17. Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.
Azzi S; Abi Habib W; Netchine I
Curr Opin Endocrinol Diabetes Obes; 2014 Feb; 21(1):30-8. PubMed ID: 24322424
[TBL] [Abstract][Full Text] [Related]
18. Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
Brioude F; Netchine I; Praz F; Le Jule M; Calmel C; Lacombe D; Edery P; Catala M; Odent S; Isidor B; Lyonnet S; Sigaudy S; Leheup B; Audebert-Bellanger S; Burglen L; Giuliano F; Alessandri JL; Cormier-Daire V; Laffargue F; Blesson S; Coupier I; Lespinasse J; Blanchet P; Boute O; Baumann C; Polak M; Doray B; Verloes A; Viot G; Le Bouc Y; Rossignol S
Hum Mutat; 2015 Sep; 36(9):894-902. PubMed ID: 26077438
[TBL] [Abstract][Full Text] [Related]
19. Alternative mechanisms associated with silencing of CDKN1C in Beckwith-Wiedemann syndrome.
Diaz-Meyer N; Yang Y; Sait SN; Maher ER; Higgins MJ
J Med Genet; 2005 Aug; 42(8):648-55. PubMed ID: 16061564
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]