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Journal Abstract Search

144 related items for PubMed ID: 15691367

  • 1. COH1 analysis and linkage study in two Japanese families with Cohen syndrome.
    Kondo I, Shimizu A, Asakawa S, Miyamoto K, Yamagata H, Tabara Y, Shimizu N.
    Clin Genet; 2005 Mar; 67(3):270-2. PubMed ID: 15691367
    [No Abstract] [Full Text] [Related]

  • 2. A familial syndrome with hypotonia, mental retardation and dysmorphic features resembling Cohen syndrome.
    Mejía-Baltodano G, Bobadilla L, Solís A, Mendoza R, Díaz-Gallardo MY, Barros-Núñez P.
    Genet Couns; 1997 Mar; 8(4):311-6. PubMed ID: 9457500
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  • 4. Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.
    Balikova I, Lehesjoki AE, de Ravel TJ, Thienpont B, Chandler KE, Clayton-Smith J, Träskelin AL, Fryns JP, Vermeesch JR.
    Hum Mutat; 2009 Sep; 30(9):E845-54. PubMed ID: 19533689
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  • 6. Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
    Seifert W, Holder-Espinasse M, Kühnisch J, Kahrizi K, Tzschach A, Garshasbi M, Najmabadi H, Walter Kuss A, Kress W, Laureys G, Loeys B, Brilstra E, Mancini GM, Dollfus H, Dahan K, Apse K, Hennies HC, Horn D.
    Hum Mutat; 2009 Feb; 30(2):E404-20. PubMed ID: 19006247
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  • 7. [Cohen syndrome].
    Kayashima T, Niikawa N.
    Ryoikibetsu Shokogun Shirizu; 2001 Feb; (36):477-8. PubMed ID: 11596442
    [No Abstract] [Full Text] [Related]

  • 8. A gene for FG syndrome maps in the Xq12-q21.31 region.
    Briault S, Hill R, Shrimpton A, Zhu D, Till M, Ronce N, Margaritte-Jeannin P, Baraitser M, Middleton-Price H, Malcolm S, Thompson E, Hoo J, Wilson G, Romano C, Guichet A, Pembrey M, Fontes M, Poustka A, Moraine C.
    Am J Med Genet; 1997 Nov 28; 73(1):87-90. PubMed ID: 9375929
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  • 9. Japanese kindred with FG syndrome.
    Kato R, Niikawa N, Nagai T, Fukushima Y.
    Am J Med Genet; 1994 Aug 15; 52(2):242-3. PubMed ID: 7802020
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  • 10. [Cohen syndrome in 2 brothers].
    Zetler S, Römke C, Aksu F.
    Klin Padiatr; 1987 Aug 15; 199(1):55-7. PubMed ID: 3560767
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  • 11. Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1).
    Fryns JP, Kleczkowska A, Smeets E, Thiry P, Geutjens J, Van den Berghe H.
    Am J Med Genet; 1990 Dec 15; 37(4):546-7. PubMed ID: 2260606
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  • 12. Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.
    Horn D, Krebsová A, Kunze J, Reis A.
    Am J Med Genet; 2000 Jun 05; 92(4):285-92. PubMed ID: 10842298
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  • 15. The Cohen syndrome in Israel.
    Sack J, Friedman E.
    Isr J Med Sci; 1986 Nov 05; 22(11):766-70. PubMed ID: 2432032
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  • 16. Broader geographical spectrum of Cohen syndrome due to COH1 mutations.
    Mochida GH, Rajab A, Eyaid W, Lu A, Al-Nouri D, Kosaki K, Noruzinia M, Sarda P, Ishihara J, Bodell A, Apse K, Walsh CA.
    J Med Genet; 2004 Jun 05; 41(6):e87. PubMed ID: 15173253
    [No Abstract] [Full Text] [Related]

  • 17. FG syndrome: the trias mental retardation, hypotonia and constipation reviewed.
    Zwamborn-Hanssen AM, Schrander-Stumpel CT, Smeets E, Decock P, Fryns JP.
    Genet Couns; 1995 Jun 05; 6(4):313-9. PubMed ID: 8775418
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  • 18. Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?
    Saugier-Veber P, Munnich A, Lyonnet S, Toutain A, Moraine C, Piussan C, Mathieu M, Gibbons RJ.
    Am J Med Genet; 1995 Jan 30; 55(3):300-1. PubMed ID: 7726226
    [No Abstract] [Full Text] [Related]

  • 19. Tapetoretinal degeneration in brothers with apparent Cohen syndrome: nosology with Mirhosseini-Holmes-Walton syndrome.
    Steinlein O, Tariverdian G, Boll HU, Vogel F.
    Am J Med Genet; 1991 Nov 01; 41(2):196-200. PubMed ID: 1785634
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  • 20. Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.
    Kuniba H, Tsuda M, Nakashima M, Miura S, Miyake N, Kondoh T, Matsumoto T, Moriuchi H, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Naritomi K, Matsumoto N, Kinoshita A, Yoshiura KI, Niikawa N.
    J Med Genet; 2008 Jul 01; 45(7):479-80. PubMed ID: 18593871
    [No Abstract] [Full Text] [Related]

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