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Journal Abstract Search

122 related items for PubMed ID: 8872040

  • 1. A new case of Beckwith-Wiedemann syndrome with an 11p15 duplication of paternal origin [46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)pat].
    Krajewska-Walasek M, Gutkowska A, Mospinek-Krasnopolska M, Chrzanowska K.
    Acta Genet Med Gemellol (Roma); 1996; 45(1-2):245-50. PubMed ID: 8872040
    [Abstract] [Full Text] [Related]

  • 2. Paternal origin of 11p15 duplications in the Beckwith-Wiedemann syndrome. A new case and review of the literature.
    Brown KW, Gardner A, Williams JC, Mott MG, McDermott A, Maitland NJ.
    Cancer Genet Cytogenet; 1992 Jan; 58(1):66-70. PubMed ID: 1728953
    [Abstract] [Full Text] [Related]

  • 3. Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.
    Slavotinek A, Gaunt L, Donnai D.
    J Med Genet; 1997 Oct; 34(10):819-26. PubMed ID: 9350814
    [Abstract] [Full Text] [Related]

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

  • 5. Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted.
    Weksberg R, Teshima I, Williams BR, Greenberg CR, Pueschel SM, Chernos JE, Fowlow SB, Hoyme E, Anderson IJ, Whiteman DA.
    Hum Mol Genet; 1993 May; 2(5):549-56. PubMed ID: 8518793
    [Abstract] [Full Text] [Related]

  • 6. Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.
    Delicado A, Lapunzina P, Palomares M, Molina MA, Galán E, López Pajares I.
    Eur J Med Genet; 2005 May; 48(2):159-66. PubMed ID: 16053907
    [Abstract] [Full Text] [Related]

  • 7. Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5).
    Tommerup N, Brandt CA, Pedersen S, Bolund L, Kamper J.
    J Med Genet; 1993 Nov; 30(11):958-61. PubMed ID: 8301654
    [Abstract] [Full Text] [Related]

  • 8. Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma.
    Henry I, Jeanpierre M, Couillin P, Barichard F, Serre JL, Journel H, Lamouroux A, Turleau C, de Grouchy J, Junien C.
    Hum Genet; 1989 Feb; 81(3):273-7. PubMed ID: 2921038
    [Abstract] [Full Text] [Related]

  • 9. Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report.
    Lekszas C, Nanda I, Vona B, Böck J, Ashrafzadeh F, Donyadideh N, Ebrahimzadeh F, Ahangari N, Maroofian R, Karimiani EG, Haaf T.
    BMC Med Genomics; 2019 Jun 07; 12(1):83. PubMed ID: 31174542
    [Abstract] [Full Text] [Related]

  • 10. Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype.
    South ST, Whitby H, Maxwell T, Aston E, Brothman AR, Carey JC.
    Am J Med Genet A; 2008 Oct 15; 146A(20):2691-7. PubMed ID: 18798325
    [Abstract] [Full Text] [Related]

  • 11. Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases.
    Turleau C, de Grouchy J, Chavin-Colin F, Martelli H, Voyer M, Charlas R.
    Hum Genet; 1984 Oct 15; 67(2):219-21. PubMed ID: 6745943
    [Abstract] [Full Text] [Related]

  • 12. Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family.
    Cardarelli L, Sparago A, De Crescenzo A, Nalesso E, Zavan B, Cubellis MV, Selicorni A, Cavicchioli P, Pozzan GB, Petrella M, Riccio A.
    Pediatr Dev Pathol; 2010 Oct 15; 13(4):326-30. PubMed ID: 20028213
    [Abstract] [Full Text] [Related]

  • 13. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation.
    Fisher AM, Thomas NS, Cockwell A, Stecko O, Kerr B, Temple IK, Clayton P.
    Hum Genet; 2002 Sep 15; 111(3):290-6. PubMed ID: 12215843
    [Abstract] [Full Text] [Related]

  • 14. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.
    Gaston V, Le Bouc Y, Soupre V, Burglen L, Donadieu J, Oro H, Audry G, Vazquez MP, Gicquel C.
    Eur J Hum Genet; 2001 Jun 15; 9(6):409-18. PubMed ID: 11436121
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.
    Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L.
    Am J Hum Genet; 2004 Apr 15; 74(4):715-20. PubMed ID: 14997421
    [Abstract] [Full Text] [Related]

  • 17. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.
    Catchpoole D, Lam WW, Valler D, Temple IK, Joyce JA, Reik W, Schofield PN, Maher ER.
    J Med Genet; 1997 May 15; 34(5):353-9. PubMed ID: 9152830
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 31(10):749-53. PubMed ID: 7837249
    [Abstract] [Full Text] [Related]

  • 19. Trisomy 11p15 and Beckwith-Wiedemann syndrome. Report of two new cases.
    Journel H, Lucas J, Allaire C, Le Mée F, Defawe G, Lecornu M, Jouan H, Roussey M, Le Marec B.
    Ann Genet; 1985 Oct 15; 28(2):97-101. PubMed ID: 3876070
    [Abstract] [Full Text] [Related]

  • 20. Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.
    Takama Y, Kubota A, Nakayama M, Higashimoto K, Jozaki K, Soejima H.
    Pediatr Int; 2014 Dec 15; 56(6):931-934. PubMed ID: 25521982
    [Abstract] [Full Text] [Related]

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