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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

186 related items for PubMed ID: 28947713

  • 1.
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  • 2. 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; 170(3):717-24. PubMed ID: 26590955
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  • 3. Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.
    Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ.
    Am J Hum Genet; 2000 Jul; 67(1):197-202. PubMed ID: 10839976
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  • 4. Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability.
    Tas E, Sebastian J, Madan-Khetarpal S, Sweet P, Yatsenko AN, Pollock N, Rajkovic A, Schneck FX, Yatsenko SA, Witchel SF.
    Am J Med Genet A; 2017 Jan; 173(1):221-224. PubMed ID: 27649277
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  • 5. 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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  • 7. 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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  • 9. [Hand-foot-genital syndrome].
    Mitsubuchi H, Endo F.
    Nihon Rinsho; 2006 Jun 28; Suppl 2():647-8. PubMed ID: 16817484
    [No Abstract] [Full Text] [Related]

  • 10. Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.
    Imagawa E, Kayserili H, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Ikegawa S, Matsumoto N, Miyake N.
    Am J Med Genet A; 2014 Sep 28; 164A(9):2398-402. PubMed ID: 24934387
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  • 12. Hallux valgus interphalangeus and a novel mutation in HOXA13. Part of the broadening spectrum of Hand-Foot-Genital syndrome.
    Parker L, Mangwani J, Wakeling E, Singh D.
    Foot Ankle Surg; 2011 Jun 28; 17(2):e28-30. PubMed ID: 21549968
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  • 15. Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation.
    Owens KM, Quinonez SC, Thomas PE, Keegan CE, Lefebvre N, Roulston D, Larsen CA, Stadler HS, Innis JW.
    Am J Med Genet A; 2013 May 28; 161A(5):1019-27. PubMed ID: 23532960
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  • 16. Mutation of HOXA13 in hand-foot-genital syndrome.
    Mortlock DP, Innis JW.
    Nat Genet; 1997 Feb 28; 15(2):179-80. PubMed ID: 9020844
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  • 17. 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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  • 18. Human HOX gene mutations.
    Goodman FR, Scambler PJ.
    Clin Genet; 2001 Jan 15; 59(1):1-11. PubMed ID: 11206481
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  • 19. 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 Jan 15; 11(6):e0157075. PubMed ID: 27272187
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