215 related articles for article (PubMed ID: 35266280)
21. 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]
22. 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]
23. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T; Yapici E; Bliek J; Pereda A; Begemann M; Russo S; Tannorella P; Calzari L; de Nanclares GP; Lombardi P; Temple IK; Mackay D; Riccio A; Kagami M; Ogata T; Lapunzina P; Monk D; Maher ER; Tümer Z
Clin Epigenetics; 2022 Mar; 14(1):41. PubMed ID: 35296332
[TBL] [Abstract][Full Text] [Related]
24. Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progeny.
Tannorella P; Calzari L; Daolio C; Mainini E; Vimercati A; Gentilini D; Soli F; Pedrolli A; Bonati MT; Larizza L; Russo S
Clin Epigenetics; 2022 Mar; 14(1):43. PubMed ID: 35317853
[TBL] [Abstract][Full Text] [Related]
25. Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.
Kagami M; Mizuno S; Matsubara K; Nakabayashi K; Sano S; Fuke T; Fukami M; Ogata T
Eur J Hum Genet; 2015 Aug; 23(8):1062-7. PubMed ID: 25351781
[TBL] [Abstract][Full Text] [Related]
26. No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation.
Schönherr N; Meyer E; Binder G; Wollmann HA; Eggermann T
J Pediatr Endocrinol Metab; 2007 Dec; 20(12):1329-31. PubMed ID: 18341093
[TBL] [Abstract][Full Text] [Related]
27. Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.
Mackay DJG; Bliek J; Lombardi MP; Russo S; Calzari L; Guzzetti S; Izzi C; Selicorni A; Melis D; Temple K; Maher E; Brioude F; Netchine I; Eggermann T
Genet Res (Camb); 2019 Mar; 101():e3. PubMed ID: 30829192
[TBL] [Abstract][Full Text] [Related]
28. The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.
Vals MA; Yakoreva M; Kahre T; Mee P; Muru K; Joost K; Teek R; Soellner L; Eggermann T; Õunap K
Genet Test Mol Biomarkers; 2015 Dec; 19(12):684-91. PubMed ID: 26505556
[TBL] [Abstract][Full Text] [Related]
29. Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.
Eggermann T; Brioude F; Russo S; Lombardi MP; Bliek J; Maher ER; Larizza L; Prawitt D; Netchine I; Gonzales M; Grønskov K; Tümer Z; Monk D; Mannens M; Chrzanowska K; Walasek MK; Begemann M; Soellner L; Eggermann K; Tenorio J; Nevado J; Moore GE; Mackay DJ; Temple K; Gillessen-Kaesbach G; Ogata T; Weksberg R; Algar E; Lapunzina P
Eur J Hum Genet; 2016 Jun; 24(6):784-93. PubMed ID: 26508573
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes.
Azzi S; Steunou V; Rousseau A; Rossignol S; Thibaud N; Danton F; Le Jule M; Gicquel C; Le Bouc Y; Netchine I
Hum Mutat; 2011 Feb; 32(2):249-58. PubMed ID: 21280150
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. 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]
35. Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
Chang S; Bartolomei MS
Dis Model Mech; 2020 May; 13(5):. PubMed ID: 32424032
[TBL] [Abstract][Full Text] [Related]
36. Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome.
Pignata L; Sparago A; Palumbo O; Andreucci E; Lapi E; Tenconi R; Carella M; Riccio A; Cerrato F
Genes (Basel); 2021 Apr; 12(4):. PubMed ID: 33923683
[TBL] [Abstract][Full Text] [Related]
37. Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.
Inoue T; Nakamura A; Iwahashi-Odano M; Tanase-Nakao K; Matsubara K; Nishioka J; Maruo Y; Hasegawa Y; Suzumura H; Sato S; Kobayashi Y; Murakami N; Nakabayashi K; Yamazawa K; Fuke T; Narumi S; Oka A; Ogata T; Fukami M; Kagami M
Clin Epigenetics; 2020 Jun; 12(1):86. PubMed ID: 32546215
[TBL] [Abstract][Full Text] [Related]
38. Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family.
Cardarelli L; Sparago A; De Crescenzo A; Nalesso E; Zavan B; Cubellis MV; Selicorni A; Cavicchioli P; Pozzan GB; Petrella M; Riccio A
Pediatr Dev Pathol; 2010; 13(4):326-30. PubMed ID: 20028213
[TBL] [Abstract][Full Text] [Related]
39. Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR.
Kagami M; Yanagisawa A; Ota M; Matsuoka K; Nakamura A; Matsubara K; Nakabayashi K; Takada S; Fukami M; Ogata T
Clin Epigenetics; 2019 Mar; 11(1):42. PubMed ID: 30846001
[TBL] [Abstract][Full Text] [Related]
40. Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
Geoffron S; Abi Habib W; Chantot-Bastaraud S; Dubern B; Steunou V; Azzi S; Afenjar A; Busa T; Pinheiro Canton A; Chalouhi C; Dufourg MN; Esteva B; Fradin M; Geneviève D; Heide S; Isidor B; Linglart A; Morice Picard F; Naud-Saudreau C; Oliver Petit I; Philip N; Pienkowski C; Rio M; Rossignol S; Tauber M; Thevenon J; Vu-Hong TA; Harbison MD; Salem J; Brioude F; Netchine I; Giabicani E
J Clin Endocrinol Metab; 2018 Jul; 103(7):2436-2446. PubMed ID: 29659920
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
