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 *

104 related articles for article (PubMed ID: 31055818)

  • 1. [Mutation analysis in a large Chinese pedigree affected with preaxial polydactyly II].
    Zhang Z; Lyu Y; Li-Ling J; Liu C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jun; 36(6):610-612. PubMed ID: 31055818
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [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]  

  • 3. 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]  

  • 4. [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]  

  • 5. [Analysis of gene variant in a Chinese pedigree with preaxial polydactyly].
    Li Z; Zhou Y; Li J; Geng J; Li X; Bai Y; Han Y; Cheng J; Qin Y; Ren R
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Nov; 38(11):1106-1109. PubMed ID: 34729753
    [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 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]  

  • 8. 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; 76(1):85-90. PubMed ID: 19519794
    [TBL] [Abstract][Full Text] [Related]  

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

  • 10. 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]  

  • 11. 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; 22(9):577-581. PubMed ID: 30235038
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly.
    Li H; Wang CY; Wang JX; Wu GS; Yu P; Yan XY; Chen YG; Zhao LH; Zhang YP
    Eur J Hum Genet; 2009 May; 17(5):604-10. PubMed ID: 19066618
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.