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Journal Abstract Search

160 related items for PubMed ID: 28889454

  • 21. Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing.
    Vanlerberghe C, Faivre L, Petit F, Fruchart O, Jourdain AS, Clavier F, Gay S, Manouvrier-Hanu S, Escande F.
    Clin Genet; 2015 Nov; 88(5):479-83. PubMed ID: 25382487
    [Abstract] [Full Text] [Related]

  • 22. A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.
    Girisha KM, Bidchol AM, Kamath PS, Shah KH, Mortier GR, Mundlos S, Shah H.
    Am J Med Genet A; 2014 Apr; 164A(4):898-906. PubMed ID: 24478176
    [Abstract] [Full Text] [Related]

  • 23. A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud.
    Xu C, Yang X, Zhou H, Li Y, Xing C, Zhou T, Zhong D, Lian C, Yan M, Chen T, Liao Z, Gao B, Su D, Wang T, Sharma S, Mohan C, Ahituv N, Malik S, Li QZ, Su P.
    Genet Med; 2020 Jan; 22(1):189-198. PubMed ID: 31395945
    [Abstract] [Full Text] [Related]

  • 24. A multidisciplinary review of triphalangeal thumb.
    Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER.
    J Hand Surg Eur Vol; 2019 Jan; 44(1):59-68. PubMed ID: 30318985
    [Abstract] [Full Text] [Related]

  • 25. Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.
    Farooq M, Troelsen JT, Boyd M, Eiberg H, Hansen L, Hussain MS, Rehman Su, Azhar A, Ali A, Bakhtiar SM, Tommerup N, Baig SM, Kjaer KW.
    Eur J Hum Genet; 2010 Jun; 18(6):733-6. PubMed ID: 20068592
    [Abstract] [Full Text] [Related]

  • 26. Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.
    Lohan S, Spielmann M, Doelken SC, Flöttmann R, Muhammad F, Baig SM, Wajid M, Hülsemann W, Habenicht R, Kjaer KW, Patil SJ, Girisha KM, Abarca-Barriga HH, Mundlos S, Klopocki E.
    Clin Genet; 2014 Oct; 86(4):318-25. PubMed ID: 24456159
    [Abstract] [Full Text] [Related]

  • 27. A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.
    Álvarez LFG, Tenorio-Castaño J, Poletta FA, Santos-Simarro F, Arias P, Gallego N, Orioli IM, Mundlos S, Castilla EE, Martínez-Glez V, Martínez-Frías ML, Ruiz-Pérez VL, Nevado J, Lapunzina P.
    Am J Med Genet A; 2023 Jan; 191(1):100-107. PubMed ID: 36308343
    [Abstract] [Full Text] [Related]

  • 28. A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family.
    Wang ZQ, Tian SH, Shi YZ, Zhou PT, Wang ZY, Shu RZ, Hu L, Kong X.
    Biochem Biophys Res Commun; 2007 Apr 06; 355(2):312-7. PubMed ID: 17300748
    [Abstract] [Full Text] [Related]

  • 29. Metacarpophalangeal pattern (MCPP) profile analysis in a family with triphalangeal thumb.
    Zguricas J, Dijkstra PF, Gelsema ES, Snijders PJ, Wüstefeld HP, Venema HW, Hovius SE, Lindhout D.
    J Med Genet; 1997 Jan 06; 34(1):55-62. PubMed ID: 9032651
    [Abstract] [Full Text] [Related]

  • 30. Mutational screening of GLI3, SHH, preZRS, and ZRS in 102 Chinese children with nonsyndromic polydactyly.
    Xiang Y, Jiang L, Wang B, Xu Y, Cai H, Fu Q.
    Dev Dyn; 2017 May 06; 246(5):392-402. PubMed ID: 28127823
    [Abstract] [Full Text] [Related]

  • 31. Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes.
    Semerci CN, Demirkan F, Ozdemir M, Biskin E, Akin B, Bagci H, Akarsu NA.
    Clin Genet; 2009 Jul 06; 76(1):85-90. PubMed ID: 19519794
    [Abstract] [Full Text] [Related]

  • 32. An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36.
    Radhakrishna U, Blouin JL, Solanki JV, Dhoriani GM, Antonarakis SE.
    Am J Med Genet; 1996 Dec 11; 66(2):209-15. PubMed ID: 8958333
    [Abstract] [Full Text] [Related]

  • 33. A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.
    Klopocki E, Ott CE, Benatar N, Ullmann R, Mundlos S, Lehmann K.
    J Med Genet; 2008 Jun 11; 45(6):370-5. PubMed ID: 18178630
    [Abstract] [Full Text] [Related]

  • 34. Mutational Screening of GLI3, SHH, and SHH ZRS in 78 Chinese Children with Nonsyndromic Polydactyly.
    Rao C, Chen J, Peng Q, Mo Q, Xia X, Lu X.
    Genet Test Mol Biomarkers; 2018 Sep 11; 22(9):577-581. PubMed ID: 30235038
    [Abstract] [Full Text] [Related]

  • 35. Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36.
    Al-Qattan MM, Shamseldin HE, Al Mazyad M, Al Deghaither S, Alkuraya FS.
    Am J Med Genet A; 2013 Jul 11; 161A(7):1579-84. PubMed ID: 23686920
    [Abstract] [Full Text] [Related]

  • 36. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.
    Lettice LA, Heaney SJ, Purdie LA, Li L, de Beer P, Oostra BA, Goode D, Elgar G, Hill RE, de Graaff E.
    Hum Mol Genet; 2003 Jul 15; 12(14):1725-35. PubMed ID: 12837695
    [Abstract] [Full Text] [Related]

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  • 38. Polydactyly, triphalangism of the thumb, and carpal abnormalities in a family.
    Cowell HR.
    Clin Orthop Relat Res; 2005 May 15; (434):16-25. PubMed ID: 15864027
    [Abstract] [Full Text] [Related]

  • 39. Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.
    Xu J, Wu J, Teng X, Cai L, Yuan H, Chen X, Hu M, Wang X, Jiang N, Chen H.
    Am J Med Genet A; 2020 Sep 15; 182(9):2117-2123. PubMed ID: 32662247
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