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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

128 related items for PubMed ID: 17935235

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies.
    Jorgensen EM, Ruman JI, Doherty L, Taylor HS.
    Fertil Steril; 2010 Sep 15; 94(4):1235-1238. PubMed ID: 19591980
    [Abstract] [Full Text] [Related]

  • 3. Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model.
    Innis JW, Mortlock D, Chen Z, Ludwig M, Williams ME, Williams TM, Doyle CD, Shao Z, Glynn M, Mikulic D, Lehmann K, Mundlos S, Utsch B.
    Hum Mol Genet; 2004 Nov 15; 13(22):2841-51. PubMed ID: 15385446
    [Abstract] [Full Text] [Related]

  • 4. 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 15; 161A(5):1019-27. PubMed ID: 23532960
    [Abstract] [Full Text] [Related]

  • 5. A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?
    Utsch B, Becker K, Brock D, Lentze MJ, Bidlingmaier F, Ludwig M.
    Hum Genet; 2002 May 15; 110(5):488-94. PubMed ID: 12073020
    [Abstract] [Full Text] [Related]

  • 6. Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions.
    Bachetti T, Bocca P, Borghini S, Matera I, Prigione I, Ravazzolo R, Ceccherini I.
    Int J Biochem Cell Biol; 2007 May 15; 39(2):327-39. PubMed ID: 17045833
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 67(1):197-202. PubMed ID: 10839976
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 96(4):647-652. PubMed ID: 28947713
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.
    Albrecht AN, Kornak U, Böddrich A, Süring K, Robinson PN, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S.
    Hum Mol Genet; 2004 Oct 15; 13(20):2351-9. PubMed ID: 15333588
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 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 15; 17(2):e28-30. PubMed ID: 21549968
    [Abstract] [Full Text] [Related]

  • 13. 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 15; 164A(9):2398-402. PubMed ID: 24934387
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 173(1):221-224. PubMed ID: 27649277
    [Abstract] [Full Text] [Related]

  • 15. Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.
    Di Lascio S, Bachetti T, Saba E, Ceccherini I, Benfante R, Fornasari D.
    Neurobiol Dis; 2013 Feb 15; 50():187-200. PubMed ID: 23103552
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 170(3):717-24. PubMed ID: 26590955
    [Abstract] [Full Text] [Related]

  • 17. Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.
    Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR.
    J Med Genet; 2002 Nov 15; 39(11):852-6. PubMed ID: 12414828
    [No Abstract] [Full Text] [Related]

  • 18. Human HOX gene mutations.
    Goodman FR, Scambler PJ.
    Clin Genet; 2001 Jan 15; 59(1):1-11. PubMed ID: 11206481
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract.
    Goodman FR, Mundlos S, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, Majewski F, McGaughran J, McKeown C, Reardon W, Upton J, Winter RM, Olsen BR, Scambler PJ.
    Proc Natl Acad Sci U S A; 1997 Jul 08; 94(14):7458-63. PubMed ID: 9207113
    [Abstract] [Full Text] [Related]

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