BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

405 related articles for article (PubMed ID: 24154661)

  • 21. Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome.
    Baker SW; Duffy KA; Richards-Yutz J; Deardorff MA; Kalish JM; Ganguly A
    J Med Genet; 2021 Mar; 58(3):178-184. PubMed ID: 32430359
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.
    Bilgin B; Kabaçam S; Taşkıran E; Şimşek-Kiper PÖ; Alanay Y; Boduroğlu K; Utine GE
    Turk J Pediatr; 2018; 60(5):506-513. PubMed ID: 30968633
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. An 11p15 imprinting centre region 2 deletion in a family with Beckwith Wiedemann syndrome provides insights into imprinting control at CDKN1C.
    Algar E; Dagar V; Sebaj M; Pachter N
    PLoS One; 2011; 6(12):e29034. PubMed ID: 22205991
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression.
    Smith AC; Suzuki M; Thompson R; Choufani S; Higgins MJ; Chiu IW; Squire JA; Greally JM; Weksberg R
    Genomics; 2012 Jan; 99(1):25-35. PubMed ID: 22079941
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region.
    Russo S; Finelli P; Recalcati MP; Ferraiuolo S; Cogliati F; Dalla Bernardina B; Tibiletti MG; Agosti M; Sala M; Bonati MT; Larizza L
    J Med Genet; 2006 Aug; 43(8):e39. PubMed ID: 16882733
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.
    Heide S; Chantot-Bastaraud S; Keren B; Harbison MD; Azzi S; Rossignol S; Michot C; Lackmy-Port Lys M; Demeer B; Heinrichs C; Newfield RS; Sarda P; Van Maldergem L; Trifard V; Giabicani E; Siffroi JP; Le Bouc Y; Netchine I; Brioude F
    J Med Genet; 2018 Mar; 55(3):205-213. PubMed ID: 29223973
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. 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]  

  • 31. 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]  

  • 32. 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]  

  • 33. A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome.
    De Crescenzo A; Coppola F; Falco P; Bernardo I; Ausanio G; Cerrato F; Falco L; Riccio A
    Eur J Med Genet; 2011; 54(4):e451-4. PubMed ID: 21571108
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.
    Sassi H; Elaribi Y; Jilani H; Rejeb I; Hizem S; Sebai M; Kasdallah N; Bouthour H; Hannachi S; Beygo J; Saad A; Buiting K; H'mida Ben-Brahim D; BenJemaa L
    Mol Genet Genomic Med; 2021 Oct; 9(10):e1796. PubMed ID: 34510813
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.
    Lam WW; Hatada I; Ohishi S; Mukai T; Joyce JA; Cole TR; Donnai D; Reik W; Schofield PN; Maher ER
    J Med Genet; 1999 Jul; 36(7):518-23. PubMed ID: 10424811
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
    Lee BH; Kim GH; Oh TJ; Kim JH; Lee JJ; Choi SH; Lee JY; Kim JM; Choi IH; Kim YM; Choi JH; Yoo HW
    J Hum Genet; 2013 Sep; 58(9):604-10. PubMed ID: 23803580
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome.
    Lee MP; DeBaun M; Randhawa G; Reichard BA; Elledge SJ; Feinberg AP
    Am J Hum Genet; 1997 Aug; 61(2):304-9. PubMed ID: 9311734
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 21.