BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

360 related articles for article (PubMed ID: 20808887)

  • 1. Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.
    Kouwenhoven EN; van Heeringen SJ; Tena JJ; Oti M; Dutilh BE; Alonso ME; de la Calle-Mustienes E; Smeenk L; Rinne T; Parsaulian L; Bolat E; Jurgelenaite R; Huynen MA; Hoischen A; Veltman JA; Brunner HG; Roscioli T; Oates E; Wilson M; Manzanares M; Gómez-Skarmeta JL; Stunnenberg HG; Lohrum M; van Bokhoven H; Zhou H
    PLoS Genet; 2010 Aug; 6(8):e1001065. PubMed ID: 20808887
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway.
    Vera-Carbonell A; Moya-Quiles MR; Ballesta-Martínez M; López-González V; Bafallíu JA; Guillén-Navarro E; López-Expósito I
    Gene; 2012 Apr; 497(2):292-7. PubMed ID: 22342398
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects.
    Lo Iacono N; Mantero S; Chiarelli A; Garcia E; Mills AA; Morasso MI; Costanzo A; Levi G; Guerrini L; Merlo GR
    Development; 2008 Apr; 135(7):1377-88. PubMed ID: 18326838
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phenotypic subregions within the split-hand/foot malformation 1 locus.
    Rasmussen MB; Kreiborg S; Jensen P; Bak M; Mang Y; Lodahl M; Budtz-Jørgensen E; Tommerup N; Tranebjærg L; Rendtorff ND
    Hum Genet; 2016 Mar; 135(3):345-57. PubMed ID: 26839112
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.
    Rattanasopha S; Tongkobpetch S; Srichomthong C; Kitidumrongsook P; Suphapeetiporn K; Shotelersuk V
    J Med Genet; 2014 Dec; 51(12):817-23. PubMed ID: 25332435
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans.
    Lango Allen H; Caswell R; Xie W; Xu X; Wragg C; Turnpenny PD; Turner CL; Weedon MN; Ellard S
    J Med Genet; 2014 Apr; 51(4):264-7. PubMed ID: 24459211
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.
    Sowińska-Seidler A; Badura-Stronka M; Latos-Bieleńska A; Stronka M; Jamsheer A
    Birth Defects Res A Clin Mol Teratol; 2014 Oct; 100(10):764-71. PubMed ID: 25196357
    [TBL] [Abstract][Full Text] [Related]  

  • 8. DLX5, FGF8 and the Pin1 isomerase control ΔNp63α protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations.
    Restelli M; Lopardo T; Lo Iacono N; Garaffo G; Conte D; Rustighi A; Napoli M; Del Sal G; Perez-Morga D; Costanzo A; Merlo GR; Guerrini L
    Hum Mol Genet; 2014 Jul; 23(14):3830-42. PubMed ID: 24569166
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the
    Ambrosetti I; Bernardini L; Pollazzon M; Giuffrida MG; Guida V; Peluso F; Baroni MC; Polizzi V; Napoli M; Rosato S; Trimarchi G; Gelmini C; Caraffi SG; Wischmeijer A; Frattini D; Novelli A; Garavelli L
    Genes (Basel); 2023 Jul; 14(8):. PubMed ID: 37628577
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4.
    Suzuki K; Haraguchi R; Ogata T; Barbieri O; Alegria O; Vieux-Rochas M; Nakagata N; Ito M; Mills AA; Kurita T; Levi G; Yamada G
    Eur J Hum Genet; 2008 Jan; 16(1):36-44. PubMed ID: 17878916
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35).
    Brown KK; Reiss JA; Crow K; Ferguson HL; Kelly C; Fritzsch B; Morton CC
    Hum Genet; 2010 Jan; 127(1):19-31. PubMed ID: 19707792
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.
    Crackower MA; Scherer SW; Rommens JM; Hui CC; Poorkaj P; Soder S; Cobben JM; Hudgins L; Evans JP; Tsui LC
    Hum Mol Genet; 1996 May; 5(5):571-9. PubMed ID: 8733122
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation.
    Velinov M; Ahmad A; Brown-Kipphut B; Shafiq M; Blau J; Cooma R; Roth P; Iqbal MA
    Am J Med Genet A; 2012 Dec; 158A(12):3201-6. PubMed ID: 23169702
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Functional characterization of tissue-specific enhancers in the DLX5/6 locus.
    Birnbaum RY; Everman DB; Murphy KK; Gurrieri F; Schwartz CE; Ahituv N
    Hum Mol Genet; 2012 Nov; 21(22):4930-8. PubMed ID: 22914741
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation.
    Shamseldin HE; Faden MA; Alashram W; Alkuraya FS
    J Med Genet; 2012 Jan; 49(1):16-20. PubMed ID: 22121204
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetrance.
    Delgado S; Velinov M
    Mol Cytogenet; 2015; 8():37. PubMed ID: 26075025
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mouse model of split hand/foot malformation type I.
    Merlo GR; Paleari L; Mantero S; Genova F; Beverdam A; Palmisano GL; Barbieri O; Levi G
    Genesis; 2002 Jun; 33(2):97-101. PubMed ID: 12112878
    [TBL] [Abstract][Full Text] [Related]  

  • 18. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
    van Bokhoven H; Hamel BC; Bamshad M; Sangiorgi E; Gurrieri F; Duijf PH; Vanmolkot KR; van Beusekom E; van Beersum SE; Celli J; Merkx GF; Tenconi R; Fryns JP; Verloes A; Newbury-Ecob RA; Raas-Rotschild A; Majewski F; Beemer FA; Janecke A; Chitayat D; Crisponi G; Kayserili H; Yates JR; Neri G; Brunner HG
    Am J Hum Genet; 2001 Sep; 69(3):481-92. PubMed ID: 11462173
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Deletion of a Long-Range
    Johnson KR; Gagnon LH; Tian C; Longo-Guess CM; Low BE; Wiles MV; Kiernan AE
    Genetics; 2018 Mar; 208(3):1165-1179. PubMed ID: 29301908
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.
    Tzschach A; Menzel C; Erdogan F; Schubert M; Hoeltzenbein M; Barbi G; Petzenhauser C; Ropers HH; Ullmann R; Kalscheuer V
    Am J Med Genet A; 2007 Feb; 143(4):333-7. PubMed ID: 17230488
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.