BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 24965254)

  • 1. ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers.
    Norbnop P; Srichomthong C; Suphapeetiporn K; Shotelersuk V
    J Hum Genet; 2014 Aug; 59(8):467-70. PubMed ID: 24965254
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.
    Wieczorek D; Pawlik B; Li Y; Akarsu NA; Caliebe A; May KJ; Schweiger B; Vargas FR; Balci S; Gillessen-Kaesbach G; Wollnik B
    Hum Mutat; 2010 Jan; 31(1):81-9. PubMed ID: 19847792
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly.
    Gurnett CA; Bowcock AM; Dietz FR; Morcuende JA; Murray JC; Dobbs MB
    Am J Med Genet A; 2007 Jan; 143A(1):27-32. PubMed ID: 17152067
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [ZRS mutations in two Chinese Han families featuring triphalangeal thumbs and preaxial polydactyly].
    Zhao X; Yang W; Sun M; Zhang X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Jun; 33(3):281-5. PubMed ID: 27264804
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A Novel ZRS Mutation in a Chinese Patient with Preaxial Polydactyly and Triphalangeal Thumb.
    Wu PF; Guo S; Fan XF; Fan LL; Jin JY; Tang JY; Xiang R
    Cytogenet Genome Res; 2016; 149(3):171-175. PubMed ID: 27592358
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes.
    Potuijt JWP; Hoogeboom J; de Graaff E; van Nieuwenhoven CA; Galjaard RJH
    J Med Genet; 2020 Oct; 57(10):660-663. PubMed ID: 32179704
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb.
    Furniss D; Lettice LA; Taylor IB; Critchley PS; Giele H; Hill RE; Wilkie AO
    Hum Mol Genet; 2008 Aug; 17(16):2417-23. PubMed ID: 18463159
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly.
    VanderMeer JE; Afzal M; Alyas S; Haque S; Ahituv N; Malik S
    Am J Med Genet A; 2012 Aug; 158A(8):2031-5. PubMed ID: 22786669
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Hypoplasia of the tibia, polydactyly, and triphalangeal thumb: 1st family described in Venezuela].
    Martínez-Basalo C; González-Inciarte ME; Delgado-Luengo W; Casilla-Nava S; González-Incíarte L; Alvarez-Nava F; Boscán-Porras N; Delgado-Luengo J
    Invest Clin; 1997 Dec; 38(4):219-26. PubMed ID: 9527389
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.
    Kantaputra PN; Chalidapong P
    Am J Med Genet; 2000 Jul; 93(2):126-31. PubMed ID: 10869115
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Genetic analysis of one family with congenital limb malformations].
    Cai F; Ma J; Pan R; Wang C; Li W; Cai C; Lin S; Shu J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Sep; 36(9):890-892. PubMed ID: 31515783
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family.
    Wang B; Diao Y; Liu Q; An H; Ma R; Jiang G; Lai N; Li Z; Zhu X; Zhao L; Guo Q; Zhang Z; Sun R; Li X
    Sci Rep; 2016 Dec; 6():38500. PubMed ID: 27922091
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Tibial hemimelia-polydactyly-five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS): a case report.
    Cho TJ; Baek GH; Lee HR; Moon HJ; Yoo WJ; Choi IH
    J Pediatr Orthop B; 2013 May; 22(3):219-21. PubMed ID: 22314436
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.