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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

129 related items for PubMed ID: 17264970

  • 21.
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  • 24. Oto-palato-digital syndrome type II.
    Stoll C, Alembik Y.
    Genet Couns; 1994; 5(1):61-6. PubMed ID: 8031537
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  • 26. Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28.
    Biancalana V, Le Marec B, Odent S, van den Hurk JA, Hanauer A.
    Hum Genet; 1991 Dec; 88(2):228-30. PubMed ID: 1757098
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  • 27. A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders.
    Colombani M, Laurent N, Le Merrer M, Delezoide AL, Thauvin-Robinet C, Huet F, Sagot P, Couvreur S, Rousseau T, Robertson SP, Faivre L.
    Prenat Diagn; 2006 Dec; 26(12):1151-5. PubMed ID: 17009344
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  • 29. On the phenotypic overlap between "severe" oto-palato digital type II syndrome and Larsen syndrome. Variable manifestation of a single autosomal dominant gene.
    Alembik Y, Stoll C, Messer J.
    Genet Couns; 1997 Dec; 8(2):133-7. PubMed ID: 9219012
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  • 30. Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.
    Farrington-Rock C, Kirilova V, Dillard-Telm L, Borowsky AD, Chalk S, Rock MJ, Cohn DH, Krakow D.
    Hum Mol Genet; 2008 Mar 01; 17(5):631-41. PubMed ID: 17635842
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  • 31. [Oto-palato-digital type I syndrome in five generations. Relationship to the type II form].
    Le Marec B, Odent S, Bracq E, Bulard MB, Bourdinière J, Babut JM.
    Ann Genet; 1988 Mar 01; 31(3):155-61. PubMed ID: 3265608
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  • 32. Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
    Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Krämer G, Moro F, Dobyns WB, Parrini E.
    Neurology; 2004 Jul 13; 63(1):51-6. PubMed ID: 15249610
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  • 33. Oto-palato-digital syndrome type II in two unrelated boys.
    Preis S, Kemperdick H, Majewski F.
    Clin Genet; 1994 Mar 13; 45(3):154-61. PubMed ID: 8026107
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  • 34. Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father.
    Mitter D, Krakow D, Farrington-Rock C, Meinecke P.
    Am J Med Genet A; 2008 Mar 15; 146A(6):779-83. PubMed ID: 18257094
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  • 37. Presence of filamin in the astrocytic inclusions of Aicardi syndrome.
    Van den Veyver IB, Panichkul PP, Antalffy BA, Sun Y, Hunter JV, Armstrong DD.
    Pediatr Neurol; 2004 Jan 15; 30(1):7-15. PubMed ID: 14738943
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  • 38. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
    Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA.
    Neurology; 2005 Jan 25; 64(2):254-62. PubMed ID: 15668422
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