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Journal Abstract Search

134 related items for PubMed ID: 22914672

  • 21. Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1).
    Kerrison JB, Giorda R, Lenart TD, Drack AV, Maumenee IH.
    Ophthalmic Genet; 2001 Dec; 22(4):241-8. PubMed ID: 11803490
    [Abstract] [Full Text] [Related]

  • 22. Linkage analysis of candidate regions in Swedish nonsyndromic cleft lip with or without cleft palate families.
    Wong FK, Hagberg C, Karsten A, Larson O, Gustavsson M, Huggare J, Larsson C, Teh BT, Linder-Aronson S.
    Cleft Palate Craniofac J; 2000 Jul; 37(4):357-62. PubMed ID: 10912714
    [Abstract] [Full Text] [Related]

  • 23. A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.
    Cabot A, Rozet JM, Gerber S, Perrault I, Ducroq D, Smahi A, Souied E, Munnich A, Kaplan J.
    Am J Hum Genet; 1999 Apr; 64(4):1141-6. PubMed ID: 10090899
    [Abstract] [Full Text] [Related]

  • 24. Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3.
    Self JE, Ennis S, Collins A, Shawkat F, Harris CM, Mackey DA, Hodgkins PR, Temple IK, Chen X, Lotery AJ.
    Mol Vis; 2006 Oct 18; 12():1211-6. PubMed ID: 17102799
    [Abstract] [Full Text] [Related]

  • 25. [The G990T mutation of the FRMD7 gene in a Chinese family with congenital idiopathic nystagmus].
    Li ND, Cui LH, Wang LM, Ma HZ, Zhang LL, Yue YY, Zhao KX.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Feb 18; 25(1):11-4. PubMed ID: 18247295
    [Abstract] [Full Text] [Related]

  • 26. A novel locus of coralliform cataract mapped to chromosome 2p24-pter.
    Gao L, Qin W, Cui H, Feng G, Liu P, Gao W, Ma L, Li P, He L, Fu S.
    J Hum Genet; 2005 Feb 18; 50(6):305-310. PubMed ID: 15933805
    [Abstract] [Full Text] [Related]

  • 27. [Study of gene mutation in a Chinese family with X-linked congenital nystagmus].
    Li ND, Wang LM, Cui LH, Chen X, Zhu LN, Guo X, Zhao KX.
    Zhonghua Yan Ke Za Zhi; 2008 Feb 18; 44(2):138-42. PubMed ID: 18683699
    [Abstract] [Full Text] [Related]

  • 28. Congenital motor nystagmus linked to Xq26-q27.
    Kerrison JB, Vagefi MR, Barmada MM, Maumenee IH.
    Am J Hum Genet; 1999 Feb 18; 64(2):600-7. PubMed ID: 9973299
    [Abstract] [Full Text] [Related]

  • 29. Genome-wide and interaction linkage scan for nonsyndromic cleft lip with or without cleft palate in two multiplex families in Shenyang, China.
    Wang Y, Li X, Zhu WL, Guo JZ, Song XM, Li SQ, Li Y.
    Biomed Environ Sci; 2010 Oct 18; 23(5):363-70. PubMed ID: 21112484
    [Abstract] [Full Text] [Related]

  • 30. A new locus for inherited nuclear cataract mapped to the long arm of chromosome 1.
    Wang L, Lin H, Shen Y, Huang S, Gu J, Su H, Qi Y.
    Mol Vis; 2007 Aug 01; 13():1357-62. PubMed ID: 17768382
    [Abstract] [Full Text] [Related]

  • 31. [A genome-wide screening for pathological myopia suggests a novel locus on chromosome 15q12 - 13].
    Yu ZQ, Li YB, Huang CX, Chu RY, Hu DN, Shen ZH, Huang W.
    Zhonghua Yan Ke Za Zhi; 2007 Mar 01; 43(3):233-8. PubMed ID: 17605906
    [Abstract] [Full Text] [Related]

  • 32. Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity.
    Graff C, Urbak SF, Jerndal T, Wadelius C.
    Hum Genet; 1995 Sep 01; 96(3):285-9. PubMed ID: 7649543
    [Abstract] [Full Text] [Related]

  • 33. Evidence for genetic heterogeneity in families with congenital motor nystagmus (CN).
    Oetting WS, Armstrong CM, Holleschau AM, DeWan AT, Summers GC.
    Ophthalmic Genet; 2000 Dec 01; 21(4):227-33. PubMed ID: 11135493
    [Abstract] [Full Text] [Related]

  • 34.
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    [No Abstract] [Full Text] [Related]

  • 35. Further evidence of genetic heterogeneity segregating with hereditary gingival fibromatosis.
    Ye X, Shi L, Yin W, Meng L, Wang QK, Bian Z.
    J Clin Periodontol; 2009 Aug 01; 36(8):627-33. PubMed ID: 19552635
    [Abstract] [Full Text] [Related]

  • 36. [Preliminary linkage analysis on autosomal dominant microphthalmia with 12 microsatellite markers].
    Yu P, Zhou Q, Guo L, Zhou YM, Luo YY, Zhang RY, Yan XY, Ding KP, Hong ZF, Zhang YZ.
    Shi Yan Sheng Wu Xue Bao; 2004 Apr 01; 37(2):85-90. PubMed ID: 15259979
    [Abstract] [Full Text] [Related]

  • 37. Paroxysmal kinesigenic choreoathetosis: evidence of linkage to the pericentromeric region of chromosome 16 in four Chinese families.
    Wang X, Sun W, Zhu X, Li L, Du T, Mao W, Wu X, Wei H, Zhu S, Sun Y, Liu Y, Niu N, Wang Y, Liu Y.
    Eur J Neurol; 2010 Jun 01; 17(6):800-7. PubMed ID: 20158512
    [Abstract] [Full Text] [Related]

  • 38. [Gene mapping of a pedigree with autosomal dominant congenital cataract].
    Qi YH, Jia HY, Huang SZ, Lin H, Gu JZ, Su H, Zhang TY, Gao Y.
    Zhonghua Yan Ke Za Zhi; 2004 Dec 01; 40(12):824-7. PubMed ID: 15733435
    [Abstract] [Full Text] [Related]

  • 39. A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612.
    Zhang Q, Guo X, Xiao X, Jia X, Li S, Hejtmancik JF.
    Mol Vis; 2005 Jul 22; 11():554-60. PubMed ID: 16052171
    [Abstract] [Full Text] [Related]

  • 40. A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension.
    Disse-Nicodème S, Achard JM, Desitter I, Houot AM, Fournier A, Corvol P, Jeunemaitre X.
    Am J Hum Genet; 2000 Aug 22; 67(2):302-10. PubMed ID: 10869238
    [Abstract] [Full Text] [Related]

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