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Journal Abstract Search


183 related items for PubMed ID: 16137031

  • 21. Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes.
    Faiyaz-Ul-Haque M, Zaidi SH, King LM, Haque S, Patel M, Ahmad M, Siddique T, Ahmad W, Tsui LC, Cohn DH.
    Clin Genet; 2005 Jan; 67(1):93-7. PubMed ID: 15617554
    [Abstract] [Full Text] [Related]

  • 22. Segregation analysis in X-linked ichthyosis: paternal transmission of the affected X-chromosome.
    Toral-Lopez J, González-Huerta LM, Cuevas-Covarrubias SA.
    Br J Dermatol; 2008 Apr; 158(4):818-20. PubMed ID: 18205863
    [Abstract] [Full Text] [Related]

  • 23. X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.
    Xinhua Bao, Shengling Jiang, Fuying Song, Hong Pan, Meirong Li, Wu XR.
    J Child Neurol; 2008 Jan; 23(1):22-5. PubMed ID: 18184939
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  • 24. [Mutational analysis in a family with X-linked spondyloepiphyseal dysplasia tarda].
    Zhu HY, Li J, Zhu RF, Wu X, Duan HL, Yang Y, Zhang Y, Hu Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Aug; 25(4):421-3. PubMed ID: 18683141
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  • 25. Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.
    Solomon NM, Ross SA, Forrest SM, Thomas PQ, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL.
    J Med Genet; 2007 Apr; 44(4):e75. PubMed ID: 17400794
    [No Abstract] [Full Text] [Related]

  • 26. Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH.
    Wyandt HE, Shim SH, Mark HF, Huang XL, Milunsky JM.
    Exp Mol Pathol; 2006 Jun; 80(3):262-6. PubMed ID: 16516886
    [Abstract] [Full Text] [Related]

  • 27. Re-analysis of the Xq27-Xq28 region suggests a weak association of an X-linked gene with sporadic testicular germ cell tumour without cryptorchidism.
    Lutke Holzik MF, Hoekstra HJ, Sijmons RH, Sonneveld DJ, van der Steege G, Sleijfer DT, Nolte IM.
    Eur J Cancer; 2006 Aug; 42(12):1869-74. PubMed ID: 16797968
    [Abstract] [Full Text] [Related]

  • 28. Interpretation of clonality and X-chromosome inactivation assays urge attention.
    Gomes CC, Gomez RS.
    J Clin Pathol; 2012 May; 65(5):473. PubMed ID: 22110157
    [No Abstract] [Full Text] [Related]

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  • 30. Testicular expressed genes are missing in familial X-Linked Kallmann syndrome due to two large different deletions in daughter's X chromosomes.
    Hershkovitz E, Loewenthal N, Peretz A, Parvari R.
    Horm Res; 2008 May; 69(5):276-83. PubMed ID: 18259106
    [Abstract] [Full Text] [Related]

  • 31. Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus.
    Faerch M, Corydon TJ, Rittig S, Christensen JH, Hertz JM, Jendle J.
    Scand J Urol Nephrol; 2010 Nov; 44(5):324-30. PubMed ID: 20459358
    [Abstract] [Full Text] [Related]

  • 32. X-linked Dystonia-Deafness syndrome.
    Hayes MW, Ouvrier RA, Evans W, Somerville E, Morris JG.
    Mov Disord; 1998 Mar; 13(2):303-8. PubMed ID: 9539345
    [Abstract] [Full Text] [Related]

  • 33. [A DNA duplication at chromosome 10q24.3 is associated with split-hand split-foot malformation in a Chinese family].
    Yang W, Hu ZJ, Yu XF, Li QH, Zhang AJ, Deng X, Zhang AY, Gao CS, Liu Y, Ao Y, Lo WH, Zhang X.
    Zhonghua Yi Xue Za Zhi; 2006 Mar 14; 86(10):652-8. PubMed ID: 16681918
    [Abstract] [Full Text] [Related]

  • 34. Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH.
    Yilmaz S, Fontaine H, Brochet K, Grégoire MJ, Devignes MD, Schaff JL, Philippe C, Nemos C, McGregor JL, Jonveaux P.
    Eur J Med Genet; 2007 Mar 14; 50(5):386-91. PubMed ID: 17625997
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  • 37. [Usher syndrome and possible heredity linked to X chromosome].
    Baldellou Vázquez A, Navarro Zapata C, Albalad Cebrian E, Mateo Blanco A.
    An Esp Pediatr; 1993 Nov 14; 39(5):462-4. PubMed ID: 8285470
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  • 40. Bilateral periventricular nodular heterotopia, severe learning disability, and epilepsy in a male patient with 46,XY,der(19)t(X;19) (q11.1-11.2;p13.3).
    Balci S, Unal A, Engiz O, Aktas D, Liehr T, Gross M, Mrasek K, Saygi S.
    Dev Med Child Neurol; 2007 Mar 14; 49(3):219-24. PubMed ID: 17355480
    [Abstract] [Full Text] [Related]


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