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Journal Abstract Search

88 related items for PubMed ID: 5503659

  • 21. A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 gene.
    Sendi-Naderi A, Lüdecke HJ, Unger S, Kern JS, Wolff G, Bruckner-Tuderman L, Nashan D.
    J Eur Acad Dermatol Venereol; 2010 May; 24(5):612-4. PubMed ID: 19758263
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  • 24. Picture of the month. Tricho-rhino-phalangeal syndrome.
    Gellis SS, Feingold M.
    Am J Dis Child; 1972 Jul; 124(1):89-90. PubMed ID: 5033755
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  • 25. The Hunter-McAlpine syndrome results from duplication 5q35-qter.
    Hunter AG, Dupont B, McLaughlin M, Hinton L, Baker E, Adès L, Haan E, Schwartz CE.
    Clin Genet; 2005 Jan; 67(1):53-60. PubMed ID: 15617549
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  • 26. Tricho-rhino-phalangeal syndrome. The first case in Japan.
    Fukushima N, Anakura M, Arashima S, Matsuda I, Ohsawa T.
    Hum Genet; 1976 May 19; 32(2):207-10. PubMed ID: 1270080
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  • 27. Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24.
    Marchau FE, Van Roy BC, Parizel PM, Lambert JR, De Canck I, Leroy JG, Gevaert CM, Willems PJ, Dumon JE.
    Am J Med Genet; 1993 Feb 15; 45(4):450-5. PubMed ID: 8465849
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  • 30. The Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome type III.
    Niikawa N, Kamei T.
    Am J Med Genet; 1986 Aug 15; 24(4):759-60. PubMed ID: 3740106
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  • 31. Tricho-rhino-phalangeal syndrome: report on three unrelated families.
    Sugiura Y, Shionoya M, Inoue T, Tsuruta T.
    Jinrui Idengaku Zasshi; 1976 Jun 15; 21(1):13-22. PubMed ID: 1034123
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  • 32. A novel mutation in exon 7 in a family with mild tricho-rhino-phalangeal syndrome type I.
    Gentile M, Fiorente P, Buonadonna AL, Macina F, Cariola F.
    Clin Genet; 2003 Feb 15; 63(2):166-7. PubMed ID: 12630968
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  • 33. Langer-Giedion syndrome: type II tricho-rhino-phalangeal dysplasia.
    Stoltzfus E, Ladda RL, Lloyd-Still J.
    J Pediatr; 1977 Aug 15; 91(2):277-80. PubMed ID: 301559
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  • 34. [Tricho-rhino-falangeal dysplasia type I. Giedion's syndrome].
    Nordshus T, Hagelsteen H.
    Tidsskr Nor Laegeforen; 1980 Feb 10; 100(4):218-9. PubMed ID: 7376155
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  • 35. Tricho-rhino-phalangeal syndrome.
    Gorlin RJ, Cohen MM, Wolfson J.
    Am J Dis Child; 1969 Oct 10; 118(4):595-9. PubMed ID: 5820605
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  • 40. [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 10; 32(7):978-84. PubMed ID: 8974918
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