600 related articles for article (PubMed ID: 23719190)
1. 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]
2. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.
Azzi S; Rossignol S; Steunou V; Sas T; Thibaud N; Danton F; Le Jule M; Heinrichs C; Cabrol S; Gicquel C; Le Bouc Y; Netchine I
Hum Mol Genet; 2009 Dec; 18(24):4724-33. PubMed ID: 19755383
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.
Demars J; Rossignol S; Netchine I; Lee KS; Shmela M; Faivre L; Weill J; Odent S; Azzi S; Callier P; Lucas J; Dubourg C; Andrieux J; Le Bouc Y; El-Osta A; Gicquel C
Hum Mutat; 2011 Oct; 32(10):1171-82. PubMed ID: 21780245
[TBL] [Abstract][Full Text] [Related]
6. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.
Li M; Squire J; Shuman C; Fei YL; Atkin J; Pauli R; Smith A; Nishikawa J; Chitayat D; Weksberg R
Genomics; 2001 Jun; 74(3):370-6. PubMed ID: 11414765
[TBL] [Abstract][Full Text] [Related]
7. Aberrant CpG methylation of the imprinting control region KvDMR1 detected in assisted reproductive technology-produced calves and pathogenesis of large offspring syndrome.
Hori N; Nagai M; Hirayama M; Hirai T; Matsuda K; Hayashi M; Tanaka T; Ozawa T; Horike S
Anim Reprod Sci; 2010 Dec; 122(3-4):303-12. PubMed ID: 21035970
[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. 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]
10. Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes.
Netchine I; Rossignol S; Azzi S; Brioude F; Le Bouc Y
Endocr Dev; 2012; 23():60-70. PubMed ID: 23182821
[TBL] [Abstract][Full Text] [Related]
11. [Epigenetics, genomic imprinting and developmental disorders].
Le Bouc Y; Rossignol S; Azzi S; Brioude F; Cabrol S; Gicquel C; Netchine I
Bull Acad Natl Med; 2010 Feb; 194(2):287-97; discussion 297-300. PubMed ID: 21166119
[TBL] [Abstract][Full Text] [Related]
12. Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.
Goldman M; Smith A; Shuman C; Caluseriu O; Wei C; Steele L; Ray P; Sadowski P; Squire J; Weksberg R; Rosenblum ND
J Am Soc Nephrol; 2002 Aug; 13(8):2077-84. PubMed ID: 12138139
[TBL] [Abstract][Full Text] [Related]
13. Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.
Eggermann T
Horm Res; 2009 Apr; 71 Suppl 2():30-5. PubMed ID: 19407494
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.
Demars J; Shmela ME; Rossignol S; Okabe J; Netchine I; Azzi S; Cabrol S; Le Caignec C; David A; Le Bouc Y; El-Osta A; Gicquel C
Hum Mol Genet; 2010 Mar; 19(5):803-14. PubMed ID: 20007505
[TBL] [Abstract][Full Text] [Related]
16. (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]
17. Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.
Demars J; Gicquel C
Clin Genet; 2012 Apr; 81(4):350-61. PubMed ID: 22150955
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]