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Journal Abstract Search

321 related items for PubMed ID: 31174542

  • 1. 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]

  • 2. 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 07; 133(3):321-30. PubMed ID: 24154661
    [Abstract] [Full Text] [Related]

  • 3. 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 07; 43(8):e39. PubMed ID: 16882733
    [Abstract] [Full Text] [Related]

  • 4. Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
    Soejima H, Higashimoto K.
    J Hum Genet; 2013 Jul 07; 58(7):402-9. PubMed ID: 23719190
    [Abstract] [Full Text] [Related]

  • 5. Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.
    Heide S, Chantot-Bastaraud S, Keren B, Harbison MD, Azzi S, Rossignol S, Michot C, Lackmy-Port Lys M, Demeer B, Heinrichs C, Newfield RS, Sarda P, Van Maldergem L, Trifard V, Giabicani E, Siffroi JP, Le Bouc Y, Netchine I, Brioude F.
    J Med Genet; 2018 Mar 07; 55(3):205-213. PubMed ID: 29223973
    [Abstract] [Full Text] [Related]

  • 6.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Shuman C, Kalish JM, Weksberg R.
    ; 1993 Mar 07. PubMed ID: 20301568
    [Abstract] [Full Text] [Related]

  • 7. 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 07; 119(1-2):8-13. PubMed ID: 27436784
    [Abstract] [Full Text] [Related]

  • 8. Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.
    Slavotinek A, Gaunt L, Donnai D.
    J Med Genet; 1997 Oct 07; 34(10):819-26. PubMed ID: 9350814
    [Abstract] [Full Text] [Related]

  • 9. 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 07; 37(12):921-6. PubMed ID: 11106355
    [Abstract] [Full Text] [Related]

  • 10. Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.
    Boonen SE, Freschi A, Christensen R, Valente FM, Lildballe DL, Perone L, Palumbo O, Carella M, Uldbjerg N, Sparago A, Riccio A, Cerrato F.
    Clin Epigenetics; 2016 Dec 07; 8():69. PubMed ID: 27313795
    [Abstract] [Full Text] [Related]

  • 11. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
    Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L.
    Clin Epigenetics; 2016 Dec 07; 8():23. PubMed ID: 26933465
    [Abstract] [Full Text] [Related]

  • 12. Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting.
    Eggermann T, Kraft F, Lausberg E, Ergezinger K, Kunstmann E.
    J Med Genet; 2021 Mar 07; 58(3):173-176. PubMed ID: 32447323
    [Abstract] [Full Text] [Related]

  • 13. Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.
    Bedeschi MF, Calvello M, Paganini L, Pezzani L, Baccarin M, Fontana L, Sirchia SM, Guerneri S, Canazza L, Leva E, Colombo L, Lalatta F, Mosca F, Tabano S, Miozzo M.
    BMC Med Genet; 2017 Oct 18; 18(1):115. PubMed ID: 29047350
    [Abstract] [Full Text] [Related]

  • 14. New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome.
    Smith AC, Rubin T, Shuman C, Estabrooks L, Aylsworth AS, McDonald MT, Steele L, Ray PN, Weksberg R.
    Cytogenet Genome Res; 2006 Oct 18; 113(1-4):313-7. PubMed ID: 16575195
    [Abstract] [Full Text] [Related]

  • 15. 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 18; 2(5):549-56. PubMed ID: 8518793
    [Abstract] [Full Text] [Related]

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  • 17. (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 18; 24(2):183-90. PubMed ID: 25898929
    [Abstract] [Full Text] [Related]

  • 18. 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 18; 34(5):353-9. PubMed ID: 9152830
    [Abstract] [Full Text] [Related]

  • 19. 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 18; 9(6):409-18. PubMed ID: 11436121
    [Abstract] [Full Text] [Related]

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