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430 related items for PubMed ID: 26077438

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C.
    Sparago A, Cerrato F, Pignata L, Cammarata-Scalisi F, Garavelli L, Piscopo C, Vancini A, Riccio A.
    Genes (Basel); 2021 May 09; 12(5):. PubMed ID: 34065128
    [Abstract] [Full Text] [Related]

  • 4. Beckwith-Wiedemann syndrome: multiple molecular mechanisms.
    Enklaar T, Zabel BU, Prawitt D.
    Expert Rev Mol Med; 2006 Jul 17; 8(17):1-19. PubMed ID: 16842655
    [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. 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 15; 37(12):921-6. PubMed ID: 11106355
    [Abstract] [Full Text] [Related]

  • 7. (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]

  • 8.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Shuman C, Kalish JM, Weksberg R.
    ; 1993 Feb 15. PubMed ID: 20301568
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 Jul 15; 60(5):506-513. PubMed ID: 30968633
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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 15; 133(3):321-30. PubMed ID: 24154661
    [Abstract] [Full Text] [Related]

  • 13. CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.
    Brioude F, Oliver-Petit I, Blaise A, Praz F, Rossignol S, Le Jule M, Thibaud N, Faussat AM, Tauber M, Le Bouc Y, Netchine I.
    J Med Genet; 2013 Dec 15; 50(12):823-30. PubMed ID: 24065356
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. CDKN1C mutations: two sides of the same coin.
    Eggermann T, Binder G, Brioude F, Maher ER, Lapunzina P, Cubellis MV, Bergadá I, Prawitt D, Begemann M.
    Trends Mol Med; 2014 Nov 15; 20(11):614-22. PubMed ID: 25262539
    [Abstract] [Full Text] [Related]

  • 16. 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]

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

  • 18. p57(Kip2) knock-in mouse reveals CDK-independent contribution in the development of Beckwith-Wiedemann syndrome.
    Duquesnes N, Callot C, Jeannot P, Daburon V, Nakayama KI, Manenti S, Davy A, Besson A.
    J Pathol; 2016 Jul 15; 239(3):250-61. PubMed ID: 27015986
    [Abstract] [Full Text] [Related]

  • 19. Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene.
    Jurkiewicz D, Skórka A, Ciara E, Kugaudo M, Pelc M, Chrzanowska K, Krajewska-Walasek M.
    Clin Dysmorphol; 2020 Jan 15; 29(1):28-34. PubMed ID: 31804259
    [Abstract] [Full Text] [Related]

  • 20. 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 Jan 15; 53(6):400-3. PubMed ID: 20826236
    [Abstract] [Full Text] [Related]

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