205 related articles for article (PubMed ID: 27313795)
1. Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.
Boonen SE; Freschi A; Christensen R; Valente FM; Lildballe DL; Perone L; Palumbo O; Carella M; Uldbjerg N; Sparago A; Riccio A; Cerrato F
Clin Epigenetics; 2016; 8():69. PubMed ID: 27313795
[TBL] [Abstract][Full Text] [Related]
2. The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.
Chiesa N; De Crescenzo A; Mishra K; Perone L; Carella M; Palumbo O; Mussa A; Sparago A; Cerrato F; Russo S; Lapi E; Cubellis MV; Kanduri C; Cirillo Silengo M; Riccio A; Ferrero GB
Hum Mol Genet; 2012 Jan; 21(1):10-25. PubMed ID: 21920939
[TBL] [Abstract][Full Text] [Related]
3. Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.
Heide S; Chantot-Bastaraud S; Keren B; Harbison MD; Azzi S; Rossignol S; Michot C; Lackmy-Port Lys M; Demeer B; Heinrichs C; Newfield RS; Sarda P; Van Maldergem L; Trifard V; Giabicani E; Siffroi JP; Le Bouc Y; Netchine I; Brioude F
J Med Genet; 2018 Mar; 55(3):205-213. PubMed ID: 29223973
[TBL] [Abstract][Full Text] [Related]
4. Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction.
De Crescenzo A; Sparago A; Cerrato F; Palumbo O; Carella M; Miceli M; Bronshtein M; Riccio A; Yaron Y
J Med Genet; 2013 Feb; 50(2):99-103. PubMed ID: 23243085
[TBL] [Abstract][Full Text] [Related]
5. The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
Schönherr N; Meyer E; Roos A; Schmidt A; Wollmann HA; Eggermann T
J Med Genet; 2007 Jan; 44(1):59-63. PubMed ID: 16963484
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.
Bonaldi A; Mazzeu JF; Costa SS; Honjo RS; Bertola DR; Albano LM; Furquim IM; Kim CA; Vianna-Morgante AM
Am J Med Genet A; 2011 Oct; 155A(10):2479-83. PubMed ID: 21910219
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression.
Smith AC; Suzuki M; Thompson R; Choufani S; Higgins MJ; Chiu IW; Squire JA; Greally JM; Weksberg R
Genomics; 2012 Jan; 99(1):25-35. PubMed ID: 22079941
[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. CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.
Brioude F; Oliver-Petit I; Blaise A; Praz F; Rossignol S; Le Jule M; Thibaud N; Faussat AM; Tauber M; Le Bouc Y; Netchine I
J Med Genet; 2013 Dec; 50(12):823-30. PubMed ID: 24065356
[TBL] [Abstract][Full Text] [Related]
17.
Hara-Isono K; Yamazawa K; Tanaka S; Nishi E; Fukami M; Kagami M
J Med Genet; 2022 Dec; 59(12):1241-1246. PubMed ID: 35906012
[TBL] [Abstract][Full Text] [Related]
18. Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C.
Nakashima S; Kato F; Kosho T; Nagasaki K; Kikuchi T; Kagami M; Fukami M; Ogata T
J Hum Genet; 2015 Feb; 60(2):91-5. PubMed ID: 25427884
[TBL] [Abstract][Full Text] [Related]
19. Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions.
Bliek J; Snijder S; Maas SM; Polstra A; van der Lip K; Alders M; Knegt AC; Mannens MM
Eur J Med Genet; 2009; 52(6):404-8. PubMed ID: 19735747
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
