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

191 related items for PubMed ID: 21448630

  • 21. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.
    Slatter RE, Elliott M, Welham K, Carrera M, Schofield PN, Barton DE, Maher ER.
    J Med Genet; 1994 Oct; 31(10):749-53. PubMed ID: 7837249
    [Abstract] [Full Text] [Related]

  • 22. 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
    [Abstract] [Full Text] [Related]

  • 23. 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]

  • 24. Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome.
    Tsai SY, Jeng YM, Hwu WL, Ni YH, Chang MH, Wang TR.
    J Formos Med Assoc; 1996 Feb; 95(2):180-3. PubMed ID: 9064012
    [Abstract] [Full Text] [Related]

  • 25. 18F-FDG PET/CT for Molecular Imaging of Hepatoblastoma in Beckwith-Wiedemann Syndrome.
    Derlin T, Hartung D, Hueper K.
    Clin Nucl Med; 2018 May; 43(5):e164-e165. PubMed ID: 29485435
    [Abstract] [Full Text] [Related]

  • 26. 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; 152A(6):1390-7. PubMed ID: 20503313
    [Abstract] [Full Text] [Related]

  • 27. Familial Beckwith-Wiedemann syndrome: Prenatal manifestation and a possible expansion of the phenotype.
    Brabbing-Goldstein D, Yaron Y, Reches A.
    Eur J Med Genet; 2021 Feb; 64(2):104137. PubMed ID: 33421606
    [Abstract] [Full Text] [Related]

  • 28. Fetal growth patterns 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, Silengo MC, Larizza L, Riccio A, Ferrero GB.
    Clin Genet; 2016 Jul; 90(1):21-7. PubMed ID: 26857110
    [Abstract] [Full Text] [Related]

  • 29. Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice.
    Tan TY, Amor DJ.
    J Paediatr Child Health; 2006 Sep; 42(9):486-90. PubMed ID: 16925531
    [Abstract] [Full Text] [Related]

  • 30. 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 Sep; 60(4):403-8. PubMed ID: 23197114
    [Abstract] [Full Text] [Related]

  • 31. Investigation of (epi)genotype causes and follow-up manifestations in the patients with classical and atypical phenotype of Beckwith-Wiedemann spectrum.
    Tüysüz B, Güneş N, Geyik F, Yeşil G, Celkan T, Vural M.
    Am J Med Genet A; 2021 Jun; 185(6):1721-1731. PubMed ID: 33704912
    [Abstract] [Full Text] [Related]

  • 32. The clinical course of an overgrowth syndrome, from diagnosis in infancy through adulthood: the case of Beckwith-Wiedemann syndrome.
    Pappas JG.
    Curr Probl Pediatr Adolesc Health Care; 2015 Apr; 45(4):112-7. PubMed ID: 25861997
    [Abstract] [Full Text] [Related]

  • 33. Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.
    Maas SM, Vansenne F, Kadouch DJ, Ibrahim A, Bliek J, Hopman S, Mannens MM, Merks JH, Maher ER, Hennekam RC.
    Am J Med Genet A; 2016 Sep; 170(9):2248-60. PubMed ID: 27419809
    [Abstract] [Full Text] [Related]

  • 34. Genome-wide paternal uniparental disomy as a cause of Beckwith-Wiedemann syndrome associated with recurrent virilizing adrenocortical tumors.
    Bertoin F, Letouzé E, Grignani P, Patey M, Rossignol S, Libé R, Pasqual C, Lardière-Deguelte S, Hoeffel-Fornes C, Gaillard D, Previderè C, Delemer B, Lalli E.
    Horm Metab Res; 2015 Jun; 47(7):497-503. PubMed ID: 25365508
    [Abstract] [Full Text] [Related]

  • 35. Genomic profiles of a hepatoblastoma from a patient with Beckwith-Wiedemann syndrome with uniparental disomy on chromosome 11p15 and germline mutation of APC and PALB2.
    Kim SY, Jung SH, Kim MS, Han MR, Park HC, Jung ES, Lee SH, Lee SH, Chung YJ.
    Oncotarget; 2017 Nov 03; 8(54):91950-91957. PubMed ID: 29190888
    [Abstract] [Full Text] [Related]

  • 36. Syndromes and disorders associated with omphalocele (I): Beckwith-Wiedemann syndrome.
    Chen CP.
    Taiwan J Obstet Gynecol; 2007 Jun 03; 46(2):96-102. PubMed ID: 17638616
    [Abstract] [Full Text] [Related]

  • 37. 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 03; 36(7):518-23. PubMed ID: 10424811
    [Abstract] [Full Text] [Related]

  • 38. Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome.
    Schweiger BM, Esakhan CL, Frishberg D, Grand K, Garg R, Sanchez-Lara PA.
    Am J Med Genet A; 2021 Sep 03; 185(9):2824-2828. PubMed ID: 33960620
    [Abstract] [Full Text] [Related]

  • 39. Mesenchymal hamartoma of the liver associated with features of Beckwith-Wiedemann syndrome and high serum alpha-fetoprotein levels.
    Cajaiba MM, Sarita-Reyes C, Zambrano E, Reyes-Múgica M.
    Pediatr Dev Pathol; 2007 Sep 03; 10(3):233-8. PubMed ID: 17535089
    [Abstract] [Full Text] [Related]

  • 40. Hepatoblastoma associated with Beckwith-Wiedemann syndrome and hemihypertrophy.
    Hamada Y, Takada K, Fukunaga S, Hioki K.
    Pediatr Surg Int; 2003 Apr 03; 19(1-2):112-4. PubMed ID: 12721741
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 10.