142 related articles for article (PubMed ID: 30817313)
1. Hepatoblastoma and Wilms' tumour in an infant with Beckwith-Wiedemann syndrome and diazoxide resistant congenital hyperinsulinism.
Uppal S; Blackburn J; Didi M; Shukla R; Hayden J; Senniappan S
Endocrinol Diabetes Metab Case Rep; 2019 Feb; 2019():. PubMed ID: 30817313
[TBL] [Abstract][Full Text] [Related]
2. Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.
Cooper WN; Luharia A; Evans GA; Raza H; Haire AC; Grundy R; Bowdin SC; Riccio A; Sebastio G; Bliek J; Schofield PN; Reik W; Macdonald F; Maher ER
Eur J Hum Genet; 2005 Sep; 13(9):1025-32. PubMed ID: 15999116
[TBL] [Abstract][Full Text] [Related]
3. Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.
Weksberg R; Nishikawa J; Caluseriu O; Fei YL; Shuman C; Wei C; Steele L; Cameron J; Smith A; Ambus I; Li M; Ray PN; Sadowski P; Squire J
Hum Mol Genet; 2001 Dec; 10(26):2989-3000. PubMed ID: 11751681
[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. Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation.
Kiff S; Babb C; Guemes M; Dastamani A; Gilbert C; Flanagan SE; Ellard S; Barton J; Dattani M; Shah P
Endocrinol Diabetes Metab Case Rep; 2019 Feb; 2019():. PubMed ID: 30753133
[TBL] [Abstract][Full Text] [Related]
6. Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR.
Urakawa T; Ozawa J; Tanaka M; Narusawa H; Matsuoka K; Fukami M; Nagasaki K; Kagami M
Eur J Med Genet; 2023 Jan; 66(1):104671. PubMed ID: 36402267
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.
Maas SM; Vansenne F; Kadouch DJ; Ibrahim A; Bliek J; Hopman S; Mannens MM; Merks JH; Maher ER; Hennekam RC
Am J Med Genet A; 2016 Sep; 170(9):2248-60. PubMed ID: 27419809
[TBL] [Abstract][Full Text] [Related]
9. Pancreatic surgery in infants with Beckwith-Wiedemann syndrome and hyperinsulinism.
Laje P; Palladino AA; Bhatti TR; States LJ; Stanley CA; Adzick NS
J Pediatr Surg; 2013 Dec; 48(12):2511-6. PubMed ID: 24314195
[TBL] [Abstract][Full Text] [Related]
10. Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour.
Sparago A; Russo S; Cerrato F; Ferraiuolo S; Castorina P; Selicorni A; Schwienbacher C; Negrini M; Ferrero GB; Silengo MC; Anichini C; Larizza L; Riccio A
Hum Mol Genet; 2007 Feb; 16(3):254-64. PubMed ID: 17158821
[TBL] [Abstract][Full Text] [Related]
11. Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.
Calton EA; Temple IK; Mackay DJ; Lever M; Ellard S; Flanagan SE; Davies JH; Hussain K; Gray JC
Eur J Med Genet; 2013 Feb; 56(2):114-7. PubMed ID: 23261959
[TBL] [Abstract][Full Text] [Related]
12. Favorable outcome in children with Beckwith-Wiedemann syndrome and intraabdominal malignant tumors.
Vaughan WG; Sanders DW; Grosfeld JL; Plumley DA; Rescorla FJ; Scherer LR; West KW; Breitfeld PP
J Pediatr Surg; 1995 Jul; 30(7):1042-4; discussion 1044-5. PubMed ID: 7472929
[TBL] [Abstract][Full Text] [Related]
13. Feasibility of partial nephrectomy for Wilms' tumor in children with Beckwith-Wiedemann syndrome who have been screened with abdominal ultrasonography.
McNeil DE; Langer JC; Choyke P; DeBaun MR
J Pediatr Surg; 2002 Jan; 37(1):57-60. PubMed ID: 11781987
[TBL] [Abstract][Full Text] [Related]
14. Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour.
Cerrato F; Sparago A; Verde G; De Crescenzo A; Citro V; Cubellis MV; Rinaldi MM; Boccuto L; Neri G; Magnani C; D'Angelo P; Collini P; Perotti D; Sebastio G; Maher ER; Riccio A
Hum Mol Genet; 2008 May; 17(10):1427-35. PubMed ID: 18245780
[TBL] [Abstract][Full Text] [Related]
15. Genomic profiles of a hepatoblastoma from a patient with Beckwith-Wiedemann syndrome with uniparental disomy on chromosome 11p15 and germline mutation of APC and PALB2.
Kim SY; Jung SH; Kim MS; Han MR; Park HC; Jung ES; Lee SH; Lee SH; Chung YJ
Oncotarget; 2017 Nov; 8(54):91950-91957. PubMed ID: 29190888
[TBL] [Abstract][Full Text] [Related]
16. Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15.
Smith AC; Shuman C; Chitayat D; Steele L; Ray PN; Bourgeois J; Weksberg R
Am J Med Genet A; 2007 Dec; 143A(24):3010-5. PubMed ID: 18000906
[TBL] [Abstract][Full Text] [Related]
17. Beckwith-Wiedemann syndrome-associated hepatoblastoma: wnt signal activation occurs later in tumorigenesis in patients with 11p15.5 uniparental disomy.
Fukuzawa R; Hata J; Hayashi Y; Ikeda H; Reeve AE
Pediatr Dev Pathol; 2003; 6(4):299-306. PubMed ID: 14692643
[TBL] [Abstract][Full Text] [Related]
18. Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis.
Bachmann N; Crazzolara R; Bohne F; Kotzot D; Maurer K; Enklaar T; Prawitt D; Bergmann C
Pediatr Blood Cancer; 2017 Mar; 64(3):. PubMed ID: 27650505
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]