These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

259 related items for PubMed ID: 17152067

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3. A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency.
    Al-Qattan MM, Al Abdulkareem I, Al Haidan Y, Al Balwi M.
    Am J Med Genet A; 2012 Oct; 158A(10):2610-5. PubMed ID: 22903933
    [Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5. Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.
    Sun M, Ma F, Zeng X, Liu Q, Zhao XL, Wu FX, Wu GP, Zhang ZF, Gu B, Zhao YF, Tian SH, Lin B, Kong XY, Zhang XL, Yang W, Lo WH, Zhang X.
    J Med Genet; 2008 Sep; 45(9):589-95. PubMed ID: 18417549
    [Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?
    Baas M, Potuijt JWP, Hovius SER, Hoogeboom AJM, Galjaard RH, van Nieuwenhoven CA.
    Am J Med Genet A; 2017 Nov; 173(11):2898-2905. PubMed ID: 28889454
    [Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.
    VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N.
    Hum Mutat; 2014 Aug; 35(8):945-8. PubMed ID: 24777739
    [Abstract] [Full Text] [Related]

  • 12. A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.
    Laurell T, Vandermeer JE, Wenger AM, Grigelioniene G, Nordenskjöld A, Arner M, Ekblom AG, Bejerano G, Ahituv N, Nordgren A.
    Hum Mutat; 2012 Jul; 33(7):1063-6. PubMed ID: 22495965
    [Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. The First Patient with Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome Caused by De Novo c.423+4916 T>C ZRS Variant: A Case Report.
    Zepeda-Olmos PM, Robles-Espinoza K, Esparza-García E, Magaña-Torres MT.
    Int J Mol Sci; 2024 Aug 29; 25(17):. PubMed ID: 39273297
    [Abstract] [Full Text] [Related]

  • 18. The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions.
    Potuijt JWP, Sowinska-Seidler A, Bukowska-Olech E, Nguyen P, Jankowski A, Magielsen F, Matuszewska K, van Nieuwenhoven CA, Galjaard RH, de Klein A, Jamsheer A.
    Mol Genet Genomics; 2022 Sep 29; 297(5):1343-1352. PubMed ID: 35821352
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
    Zlotina A, Melnik O, Fomicheva Y, Skitchenko R, Sergushichev A, Shagimardanova E, Gusev O, Gazizova G, Loevets T, Vershinina T, Kozyrev I, Gordeev M, Vasichkina E, Pervunina T, Kostareva A.
    BMC Med Genomics; 2020 Nov 20; 13(1):175. PubMed ID: 33218365
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 13.