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 *

287 related articles for article (PubMed ID: 17236129)

  • 1. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
    Klopocki E; Schulze H; Strauss G; Ott CE; Hall J; Trotier F; Fleischhauer S; Greenhalgh L; Newbury-Ecob RA; Neumann LM; Habenicht R; König R; Seemanova E; Megarbane A; Ropers HH; Ullmann R; Horn D; Mundlos S
    Am J Hum Genet; 2007 Feb; 80(2):232-40. PubMed ID: 17236129
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes.
    Guastadisegni MC; Roberto R; L'Abbate A; Palumbo O; Carella M; Giordani L; Cecinati V; Giordano P; Storlazzi CT
    Eur J Med Genet; 2012 Feb; 55(2):120-3. PubMed ID: 22201559
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Thrombocytopenia-absent radius syndrome.
    Toriello HV
    Semin Thromb Hemost; 2011 Sep; 37(6):707-12. PubMed ID: 22102274
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling.
    Houeijeh A; Andrieux J; Saugier-Veber P; David A; Goldenberg A; Bonneau D; Fouassier M; Journel H; Martinovic J; Escande F; Devisme L; Bisiaux S; Chaffiotte C; Baux M; Kerckaert JP; Holder-Espinasse M; Manouvrier-Hanu S
    Eur J Med Genet; 2011; 54(5):e471-7. PubMed ID: 21635976
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes.
    Brodie SA; Rodriguez-Aulet JP; Giri N; Dai J; Steinberg M; Waterfall JJ; Roberson D; Ballew BJ; Zhou W; Anzick SL; Jiang Y; Wang Y; Zhu YJ; Meltzer PS; Boland J; Alter BP; Savage SA
    Cold Spring Harb Mol Case Stud; 2019 Dec; 5(6):. PubMed ID: 31836590
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.
    Bottillo I; Castori M; De Bernardo C; Fabbri R; Grammatico B; Preziosi N; Scassellati GS; Silvestri E; Spagnuolo A; Laino L; Grammatico P
    BMC Res Notes; 2013 Sep; 6():376. PubMed ID: 24053387
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.
    Uhrig S; Schlembach D; Waldispuehl-Geigl J; Schaffer W; Geigl J; Klopocki E; Mundlos S; Speicher MR
    Am J Hum Genet; 2007 Oct; 81(4):866-8. PubMed ID: 17847015
    [No Abstract]   [Full Text] [Related]  

  • 8. Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
    Rosenfeld JA; Traylor RN; Schaefer GB; McPherson EW; Ballif BC; Klopocki E; Mundlos S; Shaffer LG; Aylsworth AS;
    Eur J Hum Genet; 2012 Jul; 20(7):754-61. PubMed ID: 22317977
    [TBL] [Abstract][Full Text] [Related]  

  • 9. New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
    Albers CA; Newbury-Ecob R; Ouwehand WH; Ghevaert C
    Curr Opin Genet Dev; 2013 Jun; 23(3):316-23. PubMed ID: 23602329
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome.
    Manukjan G; Bösing H; Schmugge M; Strauß G; Schulze H
    Br J Haematol; 2017 Nov; 179(4):606-617. PubMed ID: 28857120
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Thrombocytopenia and absent radius (TAR) syndrome.
    Fromm B; Niethard FU; Marquardt E
    Int Orthop; 1991; 15(2):95-9. PubMed ID: 1917200
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case.
    Tassano E; Gimelli S; Divizia MT; Lerone M; Vaccari C; Puliti A; Gimelli G
    Mol Cytogenet; 2015; 8():87. PubMed ID: 26550033
    [TBL] [Abstract][Full Text] [Related]  

  • 13. An eight-case 1q21 region series: novel aberrations and clinical variability with new features.
    Ceylan AC; Sahin I; Erdem HB; Kayhan G; Simsek-Kiper PO; Utine GE; Percin F; Boduroglu K; Alikasifoglu M
    J Intellect Disabil Res; 2019 Jun; 63(6):548-557. PubMed ID: 30773728
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Langerhans cell histiocytosis in a pediatric patient with thrombocytopenia-absent radius syndrome and 1q21.1 deletion: case report and proposal of a rapid molecular diagnosis of 1q21.1 deletion.
    Giordano P; Cecinati V; Grassi M; Giordani L; De Mattia D; Santoro N
    Immunopharmacol Immunotoxicol; 2011 Dec; 33(4):754-8. PubMed ID: 21428712
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Thrombocytopenia-absent radius syndrome: a clinical genetic study.
    Greenhalgh KL; Howell RT; Bottani A; Ancliff PJ; Brunner HG; Verschuuren-Bemelmans CC; Vernon E; Brown KW; Newbury-Ecob RA
    J Med Genet; 2002 Dec; 39(12):876-81. PubMed ID: 12471199
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Thrombocytopenia-absent radius - TAR-syndrome].
    Pavlenishvili IV; Mchedleshvili NV; Gotua TA
    Georgian Med News; 2011 Apr; (193):86-8. PubMed ID: 21617282
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR).
    Strippoli P; Savoia A; Iolascon A; Tonelli R; Savino M; Giordano P; D'Avanzo M; Massolo F; Locatelli F; Borgna C; De Mattia D; Zelante L; Paolucci G; Bagnara GP
    Br J Haematol; 1998 Nov; 103(2):311-4. PubMed ID: 9827898
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Parent to child transmission of the thrombocytopenia absent radius (TAR) syndrome.
    Ward RE; Bixler D; Provisor AJ; Bader P
    Am J Med Genet Suppl; 1986; 2():207-14. PubMed ID: 3146292
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: a case report.
    Papoulidis I; Oikonomidou E; Orru S; Siomou E; Kontodiou M; Eleftheriades M; Bacoulas V; Cigudosa JC; Suela J; Thomaidis L; Manolakos E
    Mol Med Rep; 2014 Jan; 9(1):163-5. PubMed ID: 24220582
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Thrombocytopenia with absent radii (TAR) syndrome: from hemopoietic progenitor to mesenchymal stromal cell disease?
    Bonsi L; Marchionni C; Alviano F; Lanzoni G; Franchina M; Costa R; Grossi A; Bagnara GP
    Exp Hematol; 2009 Jan; 37(1):1-7. PubMed ID: 19028006
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.