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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

199 related items for PubMed ID: 19184110

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  • 5. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
    Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M.
    Hum Genet; 2002 Apr; 110(4):297-301. PubMed ID: 11941477
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  • 7. Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.
    Traiffort E, Dubourg C, Faure H, Rognan D, Odent S, Durou MR, David V, Ruat M.
    J Biol Chem; 2004 Oct 08; 279(41):42889-97. PubMed ID: 15292211
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  • 11. Noggin null allele mice exhibit a microform of holoprosencephaly.
    Lana-Elola E, Tylzanowski P, Takatalo M, Alakurtti K, Veistinen L, Mitsiadis TA, Graf D, Rice R, Luyten FP, Rice DP.
    Hum Mol Genet; 2011 Oct 15; 20(20):4005-15. PubMed ID: 21821669
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  • 13. SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.
    Schell-Apacik C, Rivero M, Knepper JL, Roessler E, Muenke M, Ming JE.
    Hum Genet; 2003 Jul 15; 113(2):170-7. PubMed ID: 12709790
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  • 14. Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner.
    Singh S, Tokhunts R, Baubet V, Goetz JA, Huang ZJ, Schilling NS, Black KE, MacKenzie TA, Dahmane N, Robbins DJ.
    Hum Genet; 2009 Feb 15; 125(1):95-103. PubMed ID: 19057928
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  • 17. Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype.
    Bendavid C, Haddad BR, Griffin A, Huizing M, Dubourg C, Gicquel I, Cavalli LR, Pasquier L, Shanske AL, Long R, Ouspenskaia M, Odent S, Lacbawan F, David V, Muenke M.
    J Med Genet; 2006 Jun 15; 43(6):496-500. PubMed ID: 16199538
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  • 19. Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.
    Roessler E, Belloni E, Gaudenz K, Vargas F, Scherer SW, Tsui LC, Muenke M.
    Hum Mol Genet; 1997 Oct 15; 6(11):1847-53. PubMed ID: 9302262
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  • 20. Holoprosencephaly: molecular study of a California population.
    Nanni L, Croen LA, Lammer EJ, Muenke M.
    Am J Med Genet; 2000 Feb 14; 90(4):315-9. PubMed ID: 10710230
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