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Journal Abstract Search

159 related items for PubMed ID: 2994545

  • 1. Beckwith-Wiedemann syndrome. Clinical comparison between patients with and without 11p15 trisomy.
    Turleau C, de Grouchy J.
    Ann Genet; 1985; 28(2):93-6. PubMed ID: 2994545
    [Abstract] [Full Text] [Related]

  • 2. 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; 28(2):97-101. PubMed ID: 3876070
    [Abstract] [Full Text] [Related]

  • 3. 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; 67(2):219-21. PubMed ID: 6745943
    [Abstract] [Full Text] [Related]

  • 4. Unusual evolution of Wilms tumor in a patient with Wiedemann-Beckwith syndrome.
    Rey C, del Molino A, Santos F, Malaga S, Crespo M.
    Helv Paediatr Acta; 1988 Aug; 43(1-2):91-6. PubMed ID: 2844706
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  • 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 Aug; 48(2):159-66. PubMed ID: 16053907
    [Abstract] [Full Text] [Related]

  • 7. Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome.
    Kubota T, Saitoh S, Matsumoto T, Narahara K, Fukushima Y, Jinno Y, Niikawa N.
    Am J Med Genet; 1994 Feb 15; 49(4):378-83. PubMed ID: 7909196
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  • 9. [The Wiedemann-Beckwith syndrome and a congenital cataract].
    Momtchilova M, Pelosse B, Laroche L, Vazquez MP.
    J Fr Ophtalmol; 2001 May 15; 24(5):479-81. PubMed ID: 11397983
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  • 11. [Uniparental disomy of chromosome 11 in a patient with Beckwith-Wiedemann syndrome. First reported case in Iceland].
    Pálsson GI, Finnsdóttir V, Jóhannsson JH, Ingvarsson S.
    Laeknabladid; 2005 Nov 15; 91(11):837-40. PubMed ID: 16264244
    [Abstract] [Full Text] [Related]

  • 12. Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24).
    Gadzicki D, Baumer A, Wey E, Happel CM, Rudolph C, Tönnies H, Neitzel H, Steinemann D, Welte K, Klein C, Schlegelberger B.
    Ann Hum Genet; 2006 Nov 15; 70(Pt 6):958-64. PubMed ID: 17044870
    [Abstract] [Full Text] [Related]

  • 13. Duplication of HRAS1, INS, and IGF2 is not a common event in Beckwith-Wiedemann syndrome.
    Henry I, Jeanpierre M, Barichard F, Serre JL, Mallet J, Turleau C, de Grouchy J, Junien C.
    Ann Genet; 1988 Nov 15; 31(4):216-20. PubMed ID: 2905880
    [Abstract] [Full Text] [Related]

  • 14. [Wiedemann-Beckwith syndrome: clinical and epidemiological analysis of a consecutive series of cases in Spain].
    Arroyo Carrera I, Martínez-Frías ML, Egüés Jimeno J, García Martínez MJ, Eloína Cimadevilla Sánchez C, Bermejo Sánchez E.
    An Esp Pediatr; 1999 Feb 15; 50(2):161-5. PubMed ID: 10199027
    [Abstract] [Full Text] [Related]

  • 15. The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity.
    Niikawa N, Ishikiriyama S, Takahashi S, Inagawa A, Tonoki H, Ohta Y, Hase N, Kamei T, Kajii T.
    Am J Med Genet; 1986 May 15; 24(1):41-55. PubMed ID: 3706412
    [Abstract] [Full Text] [Related]

  • 16. Loss of heterozygosity in non-tumoral tissue in two children with Beckwith-Wiedemann syndrome.
    Schneid H, Vazquez MP, Seurin D, le Bouc Y.
    Growth Regul; 1991 Dec 15; 1(4):168-70. PubMed ID: 1688177
    [Abstract] [Full Text] [Related]

  • 17. [Wilms' tumor in patients with different abnormalities].
    Ruiz Jiménez JI, Rodrigo García F, Gutiérrez Macías A, Gutiérrez Cantó MA, Salvat Germán F, Román Ortiz ME, de las Heras M.
    Cir Pediatr; 1989 Jul 15; 2(3):143-5. PubMed ID: 2562076
    [Abstract] [Full Text] [Related]

  • 18. Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann-beckwith syndrome.
    Itoh N, Becroft DM, Reeve AE, Morison IM.
    Am J Med Genet; 2000 May 15; 92(2):111-6. PubMed ID: 10797434
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Molecular biology of Beckwith-Wiedemann syndrome.
    Weksberg R, Squire JA.
    Med Pediatr Oncol; 1996 Nov 15; 27(5):462-9. PubMed ID: 8827075
    [Abstract] [Full Text] [Related]

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