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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

231 related items for PubMed ID: 27649277

  • 1.
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  • 2. A missense mutation of HOXA13 underlies hand-foot-genital syndrome in a Chinese family.
    Cao L, Chen C, Leng Y, Yan L, Wang S, Zhang X, Luo Y.
    J Genet; 2017 Sep; 96(4):647-652. PubMed ID: 28947713
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  • 4. Hand-foot-genital syndrome - analysis of two cases.
    Piazza MJ, Urbanetz AA.
    JBRA Assist Reprod; 2018 Jun 01; 22(2):157-159. PubMed ID: 29638102
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  • 5. Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.
    Wallis M, Tsurusaki Y, Burgess T, Borzi P, Matsumoto N, Miyake N, True D, Patel C.
    Am J Med Genet A; 2016 Mar 01; 170(3):717-24. PubMed ID: 26590955
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  • 8. A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.
    Watson CM, Crinnion LA, Harrison SM, Lascelles C, Antanaviciute A, Carr IM, Bonthron DT, Sheridan E.
    PLoS One; 2016 Mar 01; 11(6):e0157075. PubMed ID: 27272187
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  • 9. B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?
    Edery P, Le Deist F, Briard ML, Debré M, Munnich A, Griscelli C, Fischer A, Lyonnet S.
    J Med Genet; 2001 Jul 01; 38(7):488-93. PubMed ID: 11476068
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  • 10. [Hand-foot-genital syndrome].
    Mitsubuchi H, Endo F.
    Nihon Rinsho; 2006 Jun 28; Suppl 2():647-8. PubMed ID: 16817484
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  • 12. Multifaceted Hoxa13 function in urogenital development underlies the Hand-Foot-Genital Syndrome.
    Roux M, Bouchard M, Kmita M.
    Hum Mol Genet; 2019 May 15; 28(10):1671-1681. PubMed ID: 30649340
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  • 13. Mutation of HOXA13 in hand-foot-genital syndrome.
    Mortlock DP, Innis JW.
    Nat Genet; 1997 Feb 15; 15(2):179-80. PubMed ID: 9020844
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  • 14. Molecular cytogenetic and clinical characterization of a patient with a 5.6-Mb deletion in 7p15 including HOXA cluster.
    Jun KR, Seo EJ, Lee JO, Yoo HW, Park IS, Yoon HK.
    Am J Med Genet A; 2011 Mar 15; 155A(3):642-7. PubMed ID: 21344639
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  • 15. Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) - report of a second family.
    Tischkowitz M, Goodman F, Koliou M, Webster D, Edery P, Jones A, Wilson LC.
    Clin Genet; 2004 Dec 15; 66(6):550-5. PubMed ID: 15521984
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  • 18. Hand-foot-genital syndrome due to a duplication variant in the GC-rich region of HOXA13.
    Geng W, Li F, Zhang R, Cao L, Du X, Gu W, Xu M.
    Eur J Med Genet; 2023 Mar 15; 66(3):104711. PubMed ID: 36702441
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  • 19. A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.
    Innis JW, Goodman FR, Bacchelli C, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE.
    Hum Mutat; 2002 May 15; 19(5):573-4. PubMed ID: 11968094
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  • 20. Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome.
    Utsch B, McCabe CD, Galbraith K, Gonzalez R, Born M, Dötsch J, Ludwig M, Reutter H, Innis JW.
    Am J Med Genet A; 2007 Dec 15; 143A(24):3161-8. PubMed ID: 17935235
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