These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

306 related items for PubMed ID: 27345568

  • 1. Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome.
    Piersigilli F, Auriti C, Mondì V, Francalanci P, Salvatori G, Danhaive O.
    Indian J Pediatr; 2016 Nov; 83(12-13):1476-1478. PubMed ID: 27345568
    [Abstract] [Full Text] [Related]

  • 2. Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome.
    Smith AC, Squire JA, Thorner P, Zielenska M, Shuman C, Grant R, Chitayat D, Nishikawa JL, Weksberg R.
    Pediatr Dev Pathol; 2001 Nov; 4(6):550-8. PubMed ID: 11826361
    [Abstract] [Full Text] [Related]

  • 3.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Shuman C, Kalish JM, Weksberg R.
    ; 1993 Nov. PubMed ID: 20301568
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.
    Li M, Squire J, Shuman C, Fei YL, Atkin J, Pauli R, Smith A, Nishikawa J, Chitayat D, Weksberg R.
    Genomics; 2001 Jun 15; 74(3):370-6. PubMed ID: 11414765
    [Abstract] [Full Text] [Related]

  • 6. Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
    Soejima H, Higashimoto K.
    J Hum Genet; 2013 Jul 15; 58(7):402-9. PubMed ID: 23719190
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 36(9):894-902. PubMed ID: 26077438
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 119(1-2):8-13. PubMed ID: 27436784
    [Abstract] [Full Text] [Related]

  • 9. Manifestation of alveolar rhabdomyosarcoma as primary cutaneous lesions in a neonate with Beckwith-Wiedemann syndrome.
    Kuroiwa M, Sakamoto J, Shimada A, Suzuki N, Hirato J, Park MJ, Sotomatsu M, Hayashi Y.
    J Pediatr Surg; 2009 Mar 15; 44(3):e31-5. PubMed ID: 19302842
    [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 15; 13(8):2077-84. PubMed ID: 12138139
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 10(26):2989-3000. PubMed ID: 11751681
    [Abstract] [Full Text] [Related]

  • 12. (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 15; 24(2):183-90. PubMed ID: 25898929
    [Abstract] [Full Text] [Related]

  • 13. Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine.
    Robbins KM, Chen Z, Wells KD, Rivera RM.
    J Biomed Sci; 2012 Nov 15; 19(1):95. PubMed ID: 23153226
    [Abstract] [Full Text] [Related]

  • 14. Beckwith-Wiedemann syndrome.
    Choufani S, Shuman C, Weksberg R.
    Am J Med Genet C Semin Med Genet; 2010 Aug 15; 154C(3):343-54. PubMed ID: 20803657
    [Abstract] [Full Text] [Related]

  • 15. 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 26; 22(7):. PubMed ID: 33810554
    [Abstract] [Full Text] [Related]

  • 16. Distant cis-elements regulate imprinted expression of the mouse p57( Kip2) (Cdkn1c) gene: implications for the human disorder, Beckwith--Wiedemann syndrome.
    John RM, Ainscough JF, Barton SC, Surani MA.
    Hum Mol Genet; 2001 Jul 15; 10(15):1601-9. PubMed ID: 11468278
    [Abstract] [Full Text] [Related]

  • 17. Imprinting disruption of the CDKN1C/KCNQ1OT1 domain: the molecular mechanisms causing Beckwith-Wiedemann syndrome and cancer.
    Higashimoto K, Soejima H, Saito T, Okumura K, Mukai T.
    Cytogenet Genome Res; 2006 Jul 15; 113(1-4):306-12. PubMed ID: 16575194
    [Abstract] [Full Text] [Related]

  • 18. Acute lymphocytic leukaemia in a child with Beckwith-Wiedemann syndrome harbouring a CDKN1C mutation.
    Abadie C, Bernard F, Netchine I, Sanlaville D, Roque A, Rossignol S, Coupier I.
    Eur J Med Genet; 2010 Jul 15; 53(6):400-3. PubMed ID: 20826236
    [Abstract] [Full Text] [Related]

  • 19. Analysis of CDKN1C in Beckwith Wiedemann syndrome.
    Algar E, Brickell S, Deeble G, Amor D, Smith P.
    Hum Mutat; 2000 Jul 15; 15(6):497-508. PubMed ID: 10862080
    [Abstract] [Full Text] [Related]

  • 20. CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.
    Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, Del Campo M, Lapunzina P.
    Am J Med Genet A; 2010 Jun 15; 152A(6):1390-7. PubMed ID: 20503313
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 16.