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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

274 related items for PubMed ID: 18178630

  • 21. [Detection of a copy number mutation on chromosome 7q36 using the Affymetrix SNP Array 6.0].
    Ma F, Wu FX, Li N, Liu Q, Yang W, Zhang X, Sun M.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun; 26(3):336-9. PubMed ID: 19504452
    [Abstract] [Full Text] [Related]

  • 22. A complex bilateral polysyndactyly disease locus maps to chromosome 7q36.
    Tsukurov O, Boehmer A, Flynn J, Nicolai JP, Hamel BC, Traill S, Zaleske D, Mankin HJ, Yeon H, Ho C.
    Nat Genet; 1994 Mar; 6(3):282-6. PubMed ID: 8012391
    [Abstract] [Full Text] [Related]

  • 23. Chromosomal dynamics at the Shh locus: limb bud-specific differential regulation of competence and active transcription.
    Amano T, Sagai T, Tanabe H, Mizushina Y, Nakazawa H, Shiroishi T.
    Dev Cell; 2009 Jan; 16(1):47-57. PubMed ID: 19097946
    [Abstract] [Full Text] [Related]

  • 24. Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements.
    Dimitrov BI, de Ravel T, Van Driessche J, de Die-Smulders C, Toutain A, Vermeesch JR, Fryns JP, Devriendt K, Debeer P.
    J Med Genet; 2010 Feb; 47(2):103-11. PubMed ID: 19584065
    [Abstract] [Full Text] [Related]

  • 25. Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.
    Dai L, Guo H, Meng H, Zhang K, Hu H, Yao H, Bai Y.
    Eur J Pediatr; 2013 Nov; 172(11):1467-73. PubMed ID: 23793141
    [Abstract] [Full Text] [Related]

  • 26. A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency.
    Al-Qattan MM, Al Abdulkareem I, Al Haidan Y, Al Balwi M.
    Am J Med Genet A; 2012 Oct; 158A(10):2610-5. PubMed ID: 22903933
    [Abstract] [Full Text] [Related]

  • 27. Highly conserved regulatory elements around the SHH gene may contribute to the maintenance of conserved synteny across human chromosome 7q36.3.
    Goode DK, Snell P, Smith SF, Cooke JE, Elgar G.
    Genomics; 2005 Aug; 86(2):172-81. PubMed ID: 15939571
    [Abstract] [Full Text] [Related]

  • 28. Phylogenetic footprinting reveals extensive conservation of Sonic Hedgehog (SHH) regulatory elements.
    Lemos B, Yunes JA, Vargas FR, Moreira MA, Cardoso AA, Seuánez HN.
    Genomics; 2004 Sep; 84(3):511-23. PubMed ID: 15498458
    [Abstract] [Full Text] [Related]

  • 29. A novel acropectoral syndrome maps to chromosome 7q36.
    Dundar M, Gordon TM, Ozyazgan I, Oguzkaya F, Ozkul Y, Cooke A, Wilkinson AG, Holloway S, Goodman FR, Tolmie JL.
    J Med Genet; 2001 May; 38(5):304-9. PubMed ID: 11333865
    [Abstract] [Full Text] [Related]

  • 30. Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing.
    Vanlerberghe C, Faivre L, Petit F, Fruchart O, Jourdain AS, Clavier F, Gay S, Manouvrier-Hanu S, Escande F.
    Clin Genet; 2015 Nov; 88(5):479-83. PubMed ID: 25382487
    [Abstract] [Full Text] [Related]

  • 31. An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family.
    Wang B, Diao Y, Liu Q, An H, Ma R, Jiang G, Lai N, Li Z, Zhu X, Zhao L, Guo Q, Zhang Z, Sun R, Li X.
    Sci Rep; 2016 Dec 06; 6():38500. PubMed ID: 27922091
    [Abstract] [Full Text] [Related]

  • 32. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.
    Lettice LA, Heaney SJ, Purdie LA, Li L, de Beer P, Oostra BA, Goode D, Elgar G, Hill RE, de Graaff E.
    Hum Mol Genet; 2003 Jul 15; 12(14):1725-35. PubMed ID: 12837695
    [Abstract] [Full Text] [Related]

  • 33. The expression of preaxial polydactyly is influenced by modifying genetic elements and is not maintained by chromosomal inversion in an avian biomedical model.
    Robb EA, Delany ME.
    Cytogenet Genome Res; 2012 Jul 15; 136(1):50-68. PubMed ID: 22286052
    [Abstract] [Full Text] [Related]

  • 34. Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.
    Bertolacini CD, Richieri-Costa A, Ribeiro-Bicudo LA.
    Brain Dev; 2010 Mar 15; 32(3):217-22. PubMed ID: 19398181
    [Abstract] [Full Text] [Related]

  • 35. High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis.
    Mei D, Lewis R, Parrini E, Lazarou LP, Marini C, Pilz DT, Guerrini R.
    J Med Genet; 2008 Jun 15; 45(6):355-61. PubMed ID: 18285425
    [Abstract] [Full Text] [Related]

  • 36. Localization of dominantly inherited isolated triphalangeal thumb to chromosomal region 7q36.
    Dobbs MB, Dietz FR, Gurnett CA, Morcuende JA, Steyers CM, Murray JC.
    J Orthop Res; 2000 May 15; 18(3):340-4. PubMed ID: 10937618
    [Abstract] [Full Text] [Related]

  • 37. Loss of connexin43-mediated gap junctional coupling in the mesenchyme of limb buds leads to altered expression of morphogens in mice.
    Dobrowolski R, Hertig G, Lechner H, Wörsdörfer P, Wulf V, Dicke N, Eckert D, Bauer R, Schorle H, Willecke K.
    Hum Mol Genet; 2009 Aug 01; 18(15):2899-911. PubMed ID: 19439426
    [Abstract] [Full Text] [Related]

  • 38. HnRNP U mediates the long-range regulation of Shh expression during limb development.
    Zhao J, Ding J, Li Y, Ren K, Sha J, Zhu M, Gao X.
    Hum Mol Genet; 2009 Aug 15; 18(16):3090-7. PubMed ID: 19477957
    [Abstract] [Full Text] [Related]

  • 39. Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly.
    Li H, Wang CY, Wang JX, Wu GS, Yu P, Yan XY, Chen YG, Zhao LH, Zhang YP.
    Eur J Hum Genet; 2009 May 15; 17(5):604-10. PubMed ID: 19066618
    [Abstract] [Full Text] [Related]

  • 40. [Genetic analysis of a Chinese pedigree with congenital synpolydactyly].
    Qin W, Shu AL, Xing QH, Yang MS, Feng GY, He L.
    Yi Chuan Xue Bao; 2003 Oct 15; 30(10):973-7. PubMed ID: 14669516
    [Abstract] [Full Text] [Related]

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