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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

150 related articles for article (PubMed ID: 29543231)

  • 1. A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.
    Potuijt JWP; Baas M; Sukenik-Halevy R; Douben H; Nguyen P; Venter DJ; Gallagher R; Swagemakers SM; Hovius SER; van Nieuwenhoven CA; Galjaard RH; van der Spek PJ; Ahituv N; de Klein A
    Genet Med; 2018 Nov; 20(11):1405-1413. PubMed ID: 29543231
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 297(5):1343-1352. PubMed ID: 35821352
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 13(1):175. PubMed ID: 33218365
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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; 45(6):370-5. PubMed ID: 18178630
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Microduplication of 7q36.3 encompassing the SHH long‑range regulator (ZRS) in a patient with triphalangeal thumb‑polysyndactyly syndrome and congenital heart disease.
    Liu Z; Yin N; Gong L; Tan Z; Yin B; Yang Y; Luo C
    Mol Med Rep; 2017 Feb; 15(2):793-797. PubMed ID: 28035386
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 182(9):2117-2123. PubMed ID: 32662247
    [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. Mutation analysis of a Chinese pedigree with triphalangeal thumb-polysyndactyly syndrome.
    Xing XS; Zhu HW; Chen C; Wang SS; Luo Y; Zhang X
    Genet Mol Res; 2014 Jan; 13(1):246-54. PubMed ID: 24535850
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

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

  • 19. 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; 161A(7):1579-84. PubMed ID: 23686920
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of spontaneous mutations within the long-range limb-specific Sonic hedgehog enhancer (ZRS) that alter Sonic hedgehog expression in the chicken limb mutants oligozeugodactyly and silkie breed.
    Maas SA; Suzuki T; Fallon JF
    Dev Dyn; 2011 May; 240(5):1212-22. PubMed ID: 21509895
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.