433 related articles for article (PubMed ID: 14997421)
21. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects.
DeBaun MR; Niemitz EL; McNeil DE; Brandenburg SA; Lee MP; Feinberg AP
Am J Hum Genet; 2002 Mar; 70(3):604-11. PubMed ID: 11813134
[TBL] [Abstract][Full Text] [Related]
22. A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome.
Smilinich NJ; Day CD; Fitzpatrick GV; Caldwell GM; Lossie AC; Cooper PR; Smallwood AC; Joyce JA; Schofield PN; Reik W; Nicholls RD; Weksberg R; Driscoll DJ; Maher ER; Shows TB; Higgins MJ
Proc Natl Acad Sci U S A; 1999 Jul; 96(14):8064-9. PubMed ID: 10393948
[TBL] [Abstract][Full Text] [Related]
23. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.
Douglas J; Hanks S; Temple IK; Davies S; Murray A; Upadhyaya M; Tomkins S; Hughes HE; Cole TR; Rahman N
Am J Hum Genet; 2003 Jan; 72(1):132-43. PubMed ID: 12464997
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus.
Zollino M; Orteschi D; Marangi G; De Crescenzo A; Pecile V; Riccio A; Neri G
J Med Genet; 2010 Jun; 47(6):429-32. PubMed ID: 19843502
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. (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]
28. Clinical and molecular overlap in overgrowth syndromes.
Baujat G; Rio M; Rossignol S; Sanlaville D; Lyonnet S; Le Merrer M; Munnich A; Gicquel C; Colleaux L; Cormier-Daire V
Am J Med Genet C Semin Med Genet; 2005 Aug; 137C(1):4-11. PubMed ID: 16010674
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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]
31. 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]
32. 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]
33. 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]
34. Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
Romanelli V; Meneses HN; Fernández L; Martínez-Glez V; Gracia-Bouthelier R; F Fraga M; Guillén E; Nevado J; Gean E; Martorell L; Marfil VE; García-Miñaur S; Lapunzina P
Eur J Hum Genet; 2011 Apr; 19(4):416-21. PubMed ID: 21248736
[TBL] [Abstract][Full Text] [Related]
35. The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region.
Rossignol S; Steunou V; Chalas C; Kerjean A; Rigolet M; Viegas-Pequignot E; Jouannet P; Le Bouc Y; Gicquel C
J Med Genet; 2006 Dec; 43(12):902-7. PubMed ID: 16825435
[TBL] [Abstract][Full Text] [Related]
36. Sequence-based structural features between Kvlqt1 and Tapa1 on mouse chromosome 7F4/F5 corresponding to the Beckwith-Wiedemann syndrome region on human 11p15.5: long-stretches of unusually well conserved intronic sequences of kvlqt1 between mouse and human.
Yatsuki H; Watanabe H; Hattori M; Joh K; Soejima H; Komoda H; Xin Z; Zhu X; Higashimoto K; Nishimura M; Kuratomi S; Sasaki H; Sakaki Y; Mukai T
DNA Res; 2000 Jun; 7(3):195-206. PubMed ID: 10907850
[TBL] [Abstract][Full Text] [Related]
37. Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
Türkmen S; Gillessen-Kaesbach G; Meinecke P; Albrecht B; Neumann LM; Hesse V; Palanduz S; Balg S; Majewski F; Fuchs S; Zschieschang P; Greiwe M; Mennicke K; Kreuz FR; Dehmel HJ; Rodeck B; Kunze J; Tinschert S; Mundlos S; Horn D
Eur J Hum Genet; 2003 Nov; 11(11):858-65. PubMed ID: 14571271
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. 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]
40. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.
Slatter RE; Elliott M; Welham K; Carrera M; Schofield PN; Barton DE; Maher ER
J Med Genet; 1994 Oct; 31(10):749-53. PubMed ID: 7837249
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
