These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

89 related articles for article (PubMed ID: 19504437)

  • 1. [Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene].
    Ke X; Dong AL; Liu QJ
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun; 26(3):267-71. PubMed ID: 19504437
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.
    McCready ME; Sweeney E; Fryer AE; Donnai D; Baig A; Racacho L; Warman ML; Hunter AG; Bulman DE
    Hum Genet; 2002 Oct; 111(4-5):368-75. PubMed ID: 12384778
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.
    Stattin EL; Lindén B; Lönnerholm T; Schuster J; Dahl N
    Eur J Med Genet; 2009; 52(5):297-302. PubMed ID: 19464397
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in GDF5 presenting as semidominant brachydactyly A1.
    Byrnes AM; Racacho L; Nikkel SM; Xiao F; MacDonald H; Underhill TM; Bulman DE
    Hum Mutat; 2010 Oct; 31(10):1155-62. PubMed ID: 20683927
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.
    Gao B; Guo J; She C; Shu A; Yang M; Tan Z; Yang X; Guo S; Feng G; He L
    Nat Genet; 2001 Aug; 28(4):386-8. PubMed ID: 11455389
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.
    Ke T; Nie SW; Yang QB; Liu JP; Zhou LN; Ren X; Liu JY; Wang Q; Liu MG
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Oct; 23(5):481-5. PubMed ID: 17029191
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [A novel KIT gene mutation from a family with piebaldism in the southern part of China].
    Deng WP; Huang YS; Lu C; Lan W; Zhu GX; Lin QD; Feng PY
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Dec; 22(6):668-70. PubMed ID: 16331568
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Mutation analysis of a Chinese family with inherited long QT syndrome].
    Du R; Yang JG; Li W; Gui L; Yuan GH; Kang CL; Ren FX; Zhang SY
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Feb; 22(1):68-70. PubMed ID: 15696484
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.
    Ramprasad VL; Thool A; Murugan S; Nancarrow D; Vyas P; Rao SK; Vidhya A; Ravishankar K; Kumaramanickavel G
    Invest Ophthalmol Vis Sci; 2005 Jan; 46(1):17-23. PubMed ID: 15623749
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Answering a century old riddle: brachydactyly type A1.
    Gao B; He L
    Cell Res; 2004 Jun; 14(3):179-87. PubMed ID: 15225411
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [A novel missense mutation in MIP gene resulted in polymorphic cataract].
    Lin H; Wang L; Zhou N; Su H; Gu J; Qi Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Feb; 25(1):6-10. PubMed ID: 18247294
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel mitochondrial DNA missense mutation at G3421A in a family with maternally inherited diabetes and deafness.
    Chen FL; Liu Y; Song XY; Hu HY; Xu HB; Zhang XM; Shi JH; Hu J; Shen Y; Lu B; Wang XC; Hu RM
    Mutat Res; 2006 Dec; 602(1-2):26-33. PubMed ID: 16949108
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus.
    Kirkpatrick TJ; Au KS; Mastrobattista JM; McCready ME; Bulman DE; Northrup H
    J Med Genet; 2003 Jan; 40(1):42-4. PubMed ID: 12525541
    [No Abstract]   [Full Text] [Related]  

  • 15. A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q.
    Bennett TM; Mackay DS; Knopf HL; Shiels A
    Mol Vis; 2004 Jun; 10():376-82. PubMed ID: 15208569
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C).
    Kumar A; Babu M; Raghunath A; Venkatesh CP
    Mol Vis; 2004 Jul; 10():445-9. PubMed ID: 15257268
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [A novel mutation of the alpha-L-iduronidase gene in a patient with mucopolysaccharidosis type I].
    Dou W; Peng C; Zheng JK; Gu XF
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Apr; 24(2):136-9. PubMed ID: 17407067
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree.
    Ophthalmology; ; . PubMed ID: 9754180
    [TBL] [Abstract][Full Text] [Related]  

  • 19.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 5.