BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

404 related articles for article (PubMed ID: 24154661)

  • 1. 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]  

  • 2. (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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Fetal growth patterns 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; Silengo MC; Larizza L; Riccio A; Ferrero GB
    Clin Genet; 2016 Jul; 90(1):21-7. PubMed ID: 26857110
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome.
    Smith AC; Rubin T; Shuman C; Estabrooks L; Aylsworth AS; McDonald MT; Steele L; Ray PN; Weksberg R
    Cytogenet Genome Res; 2006; 113(1-4):313-7. PubMed ID: 16575195
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.
    Catchpoole D; Lam WW; Valler D; Temple IK; Joyce JA; Reik W; Schofield PN; Maher ER
    J Med Genet; 1997 May; 34(5):353-9. PubMed ID: 9152830
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Brain abnormalities in patients with Beckwith-Wiedemann syndrome.
    Gardiner K; Chitayat D; Choufani S; Shuman C; Blaser S; Terespolsky D; Farrell S; Reiss R; Wodak S; Pu S; Ray PN; Baskin B; Weksberg R
    Am J Med Genet A; 2012 Jun; 158A(6):1388-94. PubMed ID: 22585446
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 21.