170 related articles for article (PubMed ID: 36595472)
1. Investigation of a pervasive immune, cardiac, and behavioral phenotype in Beckwith-Wiedemann syndrome: A case report.
McElroy TD; Duffy KA; Hathaway ER; Byrne ME; Kalish JM
Am J Med Genet A; 2023 Apr; 191(4):1107-1110. PubMed ID: 36595472
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
Calvello M; Tabano S; Colapietro P; Maitz S; Pansa A; Augello C; Lalatta F; Gentilin B; Spreafico F; Calzari L; Perotti D; Larizza L; Russo S; Selicorni A; Sirchia SM; Miozzo M
Epigenetics; 2013 Oct; 8(10):1053-60. PubMed ID: 23917791
[TBL] [Abstract][Full Text] [Related]
4. Investigation of (epi)genotype causes and follow-up manifestations in the patients with classical and atypical phenotype of Beckwith-Wiedemann spectrum.
Tüysüz B; Güneş N; Geyik F; Yeşil G; Celkan T; Vural M
Am J Med Genet A; 2021 Jun; 185(6):1721-1731. PubMed ID: 33704912
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases.
Correa ARE; Mishra P; Kabra M; Gupta N
Indian J Pediatr; 2020 Mar; 87(3):175-178. PubMed ID: 31997239
[TBL] [Abstract][Full Text] [Related]
9. Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study.
Wang R; Xiao Y; Li D; Hu H; Li X; Ge T; Yu R; Wang Y; Zhang T
Ital J Pediatr; 2020 Apr; 46(1):55. PubMed ID: 32349794
[TBL] [Abstract][Full Text] [Related]
10. Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome.
Kim HY; Shin CH; Lee YA; Shin CH; Kim GH; Ko JM
Ann Lab Med; 2022 Nov; 42(6):668-677. PubMed ID: 35765875
[TBL] [Abstract][Full Text] [Related]
11. Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.
Tenorio J; Romanelli V; Martin-Trujillo A; Fernández GM; Segovia M; Perandones C; Pérez Jurado LA; Esteller M; Fraga M; Arias P; Gordo G; Dapía I; Mena R; Palomares M; Pérez de Nanclares G; Nevado J; García-Miñaur S; Santos-Simarro F; Martinez-Glez V; Vallespín E; ; Monk D; Lapunzina P
Am J Med Genet A; 2016 Oct; 170(10):2740-9. PubMed ID: 27480579
[TBL] [Abstract][Full Text] [Related]
12. Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome.
Choufani S; Ko JM; Lou Y; Shuman C; Fishman L; Weksberg R
Genes (Basel); 2021 Jan; 12(2):. PubMed ID: 33513760
[TBL] [Abstract][Full Text] [Related]
13. (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]
14. Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome.
Chen CP; Chern SR; Lin CH; Hsu CY; Lin HY; Wu FT; Chen SW; Wang W
Taiwan J Obstet Gynecol; 2021 Nov; 60(6):1103-1106. PubMed ID: 34794746
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.
Fontana L; Tabano S; Maitz S; Colapietro P; Garzia E; Gerli AG; Sirchia SM; Miozzo M
Int J Mol Sci; 2021 Mar; 22(7):. PubMed ID: 33810554
[TBL] [Abstract][Full Text] [Related]
17. Diffuse infantile hepatic hemangiomas in a patient with Beckwith-Wiedemann syndrome: A new association?
Macchiaiolo M; Markowich AH; Diociaiuti A; Gonfiantini MV; Buonuomo PS; Rana I; Monti L; El Hachem M; Bartuli A
Am J Med Genet A; 2020 Aug; 182(8):1972-1976. PubMed ID: 32573107
[TBL] [Abstract][Full Text] [Related]
18. Usefulness of the MS-MLPA technique in the diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
Acosta-Fernández E; Corona-Rivera JR; Ríos-Flores IM; Torres-Anguiano E; Corona-Rivera A; Peña-Padilla C; Bobadilla-Morales L
Gac Med Mex; 2022; 158(4):202-209. PubMed ID: 36256576
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
