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 *

99 related articles for article (PubMed ID: 31055818)

  • 21. 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]  

  • 22. 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]  

  • 23. 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]  

  • 24. 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]  

  • 25. Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly.
    Albuisson J; Isidor B; Giraud M; Pichon O; Marsaud T; David A; Le Caignec C; Bezieau S
    Clin Genet; 2011 Apr; 79(4):371-7. PubMed ID: 20569257
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Zone of Polarizing Activity Regulatory Sequence Mutations/Duplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis.
    Al-Qattan MM
    Biomed Res Int; 2018; 2018():1573871. PubMed ID: 29651423
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family].
    Zhao XL; Meng JP; Sun M; Ao Y; Wu AH; Lo HY; Zhang X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Feb; 22(1):5-9. PubMed ID: 15696469
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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; 246(5):392-402. PubMed ID: 28127823
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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; 25(17):. PubMed ID: 39273297
    [TBL] [Abstract][Full Text] [Related]  

  • 30. The expression of preaxial polydactyly is influenced by modifying genetic elements and is not maintained by chromosomal inversion in an avian biomedical model.
    Robb EA; Delany ME
    Cytogenet Genome Res; 2012; 136(1):50-68. PubMed ID: 22286052
    [TBL] [Abstract][Full Text] [Related]  

  • 31. ZPA Regulatory Sequence Variants in Chinese Patients With Preaxial Polydactyly: Genetic and Clinical Characteristics.
    Zeng L; Jin JY; Luo FM; Sheng Y; Wu PF; Xiang R
    Front Pediatr; 2022; 10():797978. PubMed ID: 35652055
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. [Genetic study of a Chinese pedigree affected with pachyonychia congenita].
    Zhao F; Xing B; Xiao J; Zhao X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Oct; 36(10):985-988. PubMed ID: 31598941
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. 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]  

  • 36. Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.
    Fujioka H; Ariga T; Horiuchi K; Otsu M; Igawa H; Kawashima K; Yamamoto Y; Sugihara T; Sakiyama Y
    Clin Genet; 2005 May; 67(5):429-33. PubMed ID: 15811011
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. 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]  

  • 39. [Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II].
    Zheng L; Yan Y; Chen X; Zhang C; Zhang Q; Feng X; Hao S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Feb; 35(1):81-83. PubMed ID: 29419867
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 5.