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Journal Abstract Search

179 related items for PubMed ID: 7711731

  • 1. Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.
    Lüdecke HJ, Wagner MJ, Nardmann J, La Pillo B, Parrish JE, Willems PJ, Haan EA, Frydman M, Hamers GJ, Wells DE.
    Hum Mol Genet; 1995 Jan; 4(1):31-6. PubMed ID: 7711731
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  • 2. A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1).
    Hou J, Parrish J, Lüdecke HJ, Sapru M, Wang Y, Chen W, Hill A, Siegel-Bartelt J, Northrup H, Elder FF.
    Genomics; 1995 Sep 01; 29(1):87-97. PubMed ID: 8530105
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  • 3. Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8.
    Lüdecke HJ, Schmidt O, Nardmann J, von Holtum D, Meinecke P, Muenke M, Horsthemke B.
    Hum Genet; 1999 Dec 01; 105(6):619-28. PubMed ID: 10647898
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  • 5. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.
    Momeni P, Glöckner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal A, Horsthemke B, Lüdecke HJ.
    Nat Genet; 2000 Jan 01; 24(1):71-4. PubMed ID: 10615131
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  • 6. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
    Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC.
    Eur J Med Genet; 2015 May 01; 58(5):279-92. PubMed ID: 25792522
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  • 7. Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency.
    Riedl S, Giedion A, Schweitzer K, Müllner-Eidenböck A, Grill F, Frisch H, Lüdecke HJ.
    Am J Med Genet A; 2004 Dec 01; 131(2):200-3. PubMed ID: 15523607
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  • 11. [Langer-Giedion syndrome(tricho-rhino-phalangeal syndrome, type II; TRPS II)].
    Fukushima Y.
    Ryoikibetsu Shokogun Shirizu; 2000 Dec 01; (30 Pt 5):203-4. PubMed ID: 11057196
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  • 12. Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13).
    Shanske AL, Patel A, Saukam S, Levy B, Lüdecke HJ.
    Am J Med Genet A; 2008 Dec 15; 146A(24):3211-6. PubMed ID: 19012352
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  • 13. New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.
    Crippa M, Bestetti I, Perotti M, Castronovo C, Tabano S, Picinelli C, Grassi G, Larizza L, Pincelli AI, Finelli P.
    BMC Med Genet; 2014 May 02; 15():52. PubMed ID: 24886451
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  • 14. [Molecular-genetic characteristics of the deleted region of chromosome 8q24.1 in Langer-Giedion and tricho-rhino-phalangeal type I syndromes].
    Nemtsova MV, Iatsenko AN, Kuleshov NP, Novikov PV, Meerson EM, Zaletaev DV.
    Genetika; 1996 Jul 02; 32(7):978-84. PubMed ID: 8974918
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  • 15. An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian family.
    Min BJ, Ko JM, Seo ME, Choi JS, Oh SK, Jeon J, Kim E, Moon JE, Choi IH, Lee C, Kim OH, Cho TJ, Park WY.
    Eur J Med Genet; 2013 Oct 02; 56(10):561-5. PubMed ID: 23832104
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  • 16. Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.
    Ramos FJ, McDonald-McGinn DM, Emanuel BS, Zackai EH.
    Am J Med Genet; 1992 Dec 01; 44(6):790-4. PubMed ID: 1481848
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  • 17. Assignment of fragile site 8E (FRA8E) to human chromosome band 8q24.11 adjacent to the hereditary multiple exostoses 1 gene and two overlapping Langer-Giedion syndrome deletion endpoints.
    Hill A, Harada Y, Takahashi E, Hou J, Wagner MJ, Wells DE.
    Cytogenet Cell Genet; 1997 Dec 01; 78(1):56-7. PubMed ID: 9345908
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  • 20. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1).
    Ahn J, Lüdecke HJ, Lindow S, Horton WA, Lee B, Wagner MJ, Horsthemke B, Wells DE.
    Nat Genet; 1995 Oct 01; 11(2):137-43. PubMed ID: 7550340
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