BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 17230488)

  • 1. 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]  

  • 2. Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss.
    Saitsu H; Kurosawa K; Kawara H; Eguchi M; Mizuguchi T; Harada N; Kaname T; Kano H; Miyake N; Toda T; Matsumoto N
    Am J Med Genet A; 2009 Jun; 149A(6):1224-30. PubMed ID: 19449426
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.
    Ignatius J; Knuutila S; Scherer SW; Trask B; Kere J
    J Med Genet; 1996 Jun; 33(6):507-10. PubMed ID: 8782053
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.
    Tyson C; McGillivray B; Chijiwa C; Rajcan-Separovic E
    Am J Med Genet A; 2004 Sep; 129A(3):254-60. PubMed ID: 15326624
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement.
    Tzschach A; Menzel C; Erdogan F; Istifli ES; Rieger M; Ovens-Raeder A; Macke A; Ropers HH; Ullmann R; Kalscheuer V
    Am J Med Genet A; 2010 Apr; 152A(4):1008-12. PubMed ID: 20358617
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Chromosome deletions in 13q33-34: report of four patients and review of the literature.
    Walczak-Sztulpa J; Wisniewska M; Latos-Bielenska A; Linné M; Kelbova C; Belitz B; Pfeiffer L; Kalscheuer V; Erdogan F; Kuss AW; Ropers HH; Ullmann R; Tzschach A
    Am J Med Genet A; 2008 Feb; 146A(3):337-42. PubMed ID: 18203171
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case report.
    Ramos-Zaldívar HM; Martínez-Irías DG; Espinoza-Moreno NA; Napky-Rajo JS; Bueso-Aguilar TA; Reyes-Perdomo KG; Montes-Gambarelli JA; Euceda IM; Ponce-Barahona AF; Gámez-Fernández CA; Moncada-Arita WA; Palomo-Bermúdez VA; Jiménez-Faraj JE; Hernández-Padilla AG; Olivera DA; Robertson KJ; Leiva-Sanchez LA; Herrera-Paz EF
    J Med Case Rep; 2016 Jun; 10(1):156. PubMed ID: 27291887
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.
    Le Tanno P; Poreau B; Devillard F; Vieville G; Amblard F; Jouk PS; Satre V; Coutton C
    Am J Med Genet A; 2014 Jun; 164A(6):1530-6. PubMed ID: 24648389
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.
    Erdogan F; Ullmann R; Chen W; Schubert M; Adolph S; Hultschig C; Kalscheuer V; Ropers HH; Spaich C; Tzschach A
    Am J Med Genet A; 2007 Jan; 143A(2):172-8. PubMed ID: 17163532
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes.
    Bernardini L; Palka C; Ceccarini C; Capalbo A; Bottillo I; Mingarelli R; Novelli A; Dallapiccola B
    Am J Med Genet A; 2008 Jan; 146A(2):238-44. PubMed ID: 18080328
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization].
    Seo EJ; Jun KR; Yoo HW; Yoo HK; Lee JO
    Korean J Lab Med; 2010 Feb; 30(1):70-5. PubMed ID: 20197726
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus.
    Sowińska-Seidler A; Socha M; Szoszkiewicz A; Materna-Kiryluk A; Jamsheer A
    Front Mol Biosci; 2023; 10():1250714. PubMed ID: 37916192
    [No Abstract]   [Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.