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381 related items for PubMed ID: 19386358

  • 1. CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients.
    Romanelli V, Belinchón A, Campos-Barros A, Heath KE, García-Miñaur S, Martínez-Glez V, Palomo R, Mercado G, Gracia R, Lapunzina P.
    Placenta; 2009 Jun; 30(6):551-4. PubMed ID: 19386358
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

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

  • 5. An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome.
    Hatada I, Ohashi H, Fukushima Y, Kaneko Y, Inoue M, Komoto Y, Okada A, Ohishi S, Nabetani A, Morisaki H, Nakayama M, Niikawa N, Mukai T.
    Nat Genet; 1996 Oct 15; 14(2):171-3. PubMed ID: 8841187
    [Abstract] [Full Text] [Related]

  • 6. 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 Oct 15; 53(6):400-3. PubMed ID: 20826236
    [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. CDKN1C expression in Beckwith-Wiedemann syndrome patients with allele imbalance.
    Algar EM, Deeble GJ, Smith PJ.
    J Med Genet; 1999 Jul 15; 36(7):524-31. PubMed ID: 10424812
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Association between tumor necrosis factor (TNF)-alpha G-308A gene polymorphism and preeclampsia complicated by severe fetal growth restriction.
    Molvarec A, Jermendy A, Nagy B, Kovács M, Várkonyi T, Hupuczi P, Prohászka Z, Rigó J.
    Clin Chim Acta; 2008 Jun 15; 392(1-2):52-7. PubMed ID: 18396154
    [Abstract] [Full Text] [Related]

  • 11. [Screening for G1528C mutation in mitochondrial trifunctional protein gene in pregnant women with severe preeclampsia and new born infant].
    Wang R, Yang Z, Zhu JM, Wang JL, Yang HX, Wang Q, Zhai GR, Li Z, Yu M.
    Zhonghua Fu Chan Ke Za Zhi; 2006 Oct 15; 41(10):672-5. PubMed ID: 17199921
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 36(7):518-23. PubMed ID: 10424811
    [Abstract] [Full Text] [Related]

  • 13. An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype.
    Murrell A, Heeson S, Cooper WN, Douglas E, Apostolidou S, Moore GE, Maher ER, Reik W.
    Hum Mol Genet; 2004 Jan 15; 13(2):247-55. PubMed ID: 14645199
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 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. A genome-wide scan for preeclampsia in the Netherlands.
    Lachmeijer AM, Arngrímsson R, Bastiaans EJ, Frigge ML, Pals G, Sigurdardóttir S, Stéfansson H, Pálsson B, Nicolae D, Kong A, Aarnoudse JG, Gulcher JR, Dekker GA, ten Kate LP, Stéfansson K.
    Eur J Hum Genet; 2001 Oct 15; 9(10):758-64. PubMed ID: 11781687
    [Abstract] [Full Text] [Related]

  • 17. Mannose-binding lectin (MBL) codon 54 gene polymorphism protects against development of pre-eclampsia, HELLP syndrome and pre-eclampsia-associated intrauterine growth restriction.
    Sziller I, Babula O, Hupuczi P, Nagy B, Rigó B, Szabó G, Papp Z, Linhares IM, Witkin SS.
    Mol Hum Reprod; 2007 Apr 15; 13(4):281-5. PubMed ID: 17314117
    [Abstract] [Full Text] [Related]

  • 18. Expectant management of severe preeclampsia presenting before 25 weeks of gestation.
    Sezik M, Ozkaya O, Sezik HT, Yapar EG.
    Med Sci Monit; 2007 Nov 15; 13(11):CR523-527. PubMed ID: 17968301
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay.
    Berland S, Haukanes BI, Juliusson PB, Houge G.
    J Med Genet; 2022 Feb 09; 59(2):155-164. PubMed ID: 33443097
    [Abstract] [Full Text] [Related]

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