BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

246 related articles for article (PubMed ID: 32573107)

  • 1. 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]  

  • 2. Beckwith-Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations.
    Moutafi M; Gkiourtzis N; Ververi A; Kavga M; Morichovitou A; Papadopoulou-Legbelou K; Fotoulaki M; Panagopoulou P
    Am J Med Genet A; 2024 Jan; 194(1):88-93. PubMed ID: 37632712
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mosaic paternal genome-wide uniparental isodisomy with down syndrome.
    Darcy D; Atwal PS; Angell C; Gadi I; Wallerstein R
    Am J Med Genet A; 2015 Oct; 167A(10):2463-9. PubMed ID: 26219535
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.
    Takama Y; Kubota A; Nakayama M; Higashimoto K; Jozaki K; Soejima H
    Pediatr Int; 2014 Dec; 56(6):931-934. PubMed ID: 25521982
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
    Sheppard SE; Lalonde E; Adzick NS; Beck AE; Bhatti T; De Leon DD; Duffy KA; Ganguly A; Hathaway E; Ji J; Linn R; Lord K; Randolph LM; Sajorda B; States L; Conlin LK; Kalish JM
    Genet Med; 2019 Nov; 21(11):2644-2649. PubMed ID: 31147633
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: few clinical features suggestive of Beckwith-Wiedemann syndrome.
    Adachi H; Takahashi I; Higashimoto K; Tsuchida S; Noguchi A; Tamura H; Arai H; Ito T; Masue M; Nishibori H; Takahashi T; Soejima H
    Endocr J; 2013; 60(4):403-8. PubMed ID: 23197114
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. (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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
    Gripp KW; Robbins KM; Sheffield BS; Lee AF; Patel MS; Yip S; Doyle D; Stabley D; Sol-Church K
    Am J Med Genet A; 2016 Mar; 170(3):559-64. PubMed ID: 26572961
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Metastatic Phyllodes Tumor in a Patient With Beckwith-Wiedemann Syndrome.
    Saini A; Gupte T; Choudhury MSR; Jacques SM; Roxas R
    J Investig Med High Impact Case Rep; 2022; 10():23247096221133197. PubMed ID: 36314358
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. [Uniparental disomy of chromosome 11 in a patient with Beckwith-Wiedemann syndrome. First reported case in Iceland].
    Pálsson GI; Finnsdóttir V; Jóhannsson JH; Ingvarsson S
    Laeknabladid; 2005 Nov; 91(11):837-40. PubMed ID: 16264244
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome.
    Cooper WN; Curley R; Macdonald F; Maher ER
    Genomics; 2007 May; 89(5):613-7. PubMed ID: 17337339
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.