146 related articles for article (PubMed ID: 22201559)
1. 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]
2. Thrombocytopenia-absent radius syndrome.
Toriello HV
Semin Thromb Hemost; 2011 Sep; 37(6):707-12. PubMed ID: 22102274
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. Clavicular pseudoarthrosis, anomalous coronary artery and extra crease of the fifth finger-previously unreported features in individuals with class II 1q21.1 microdeletions.
Velinov M; Dolzhanskaya N
Eur J Med Genet; 2010; 53(4):213-6. PubMed ID: 20573555
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. [Genetic Study and Prenatal Diagnosis of a Family with Thrombocytopenia-Absent Radius (TAR) Syndrome].
Ding L; Huang YZ; Qian YQ; Dong MY
Sichuan Da Xue Xue Bao Yi Xue Ban; 2021 Jul; 52(4):711-715. PubMed ID: 34323054
[TBL] [Abstract][Full Text] [Related]
15. A new approach for molecular diagnosis of TAR syndrome.
Yassaee VR; Hashemi-Gorji F; Soltani Z; Poorhosseini SM
Clin Biochem; 2014 Jun; 47(9):835-9. PubMed ID: 24769264
[TBL] [Abstract][Full Text] [Related]
16. Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney.
Skórka A; Bielicka-Cymermann J; Gieruszczak-Białek D; Korniszewski L
Genet Couns; 2005; 16(4):377-82. PubMed ID: 16440880
[TBL] [Abstract][Full Text] [Related]
17. TAR syndrome and esophagial atresia: a concomitant or variant condition?
Peker E; Cagan E; Dogan M; Sal E; Kirimi E
J Matern Fetal Neonatal Med; 2011 Feb; 24(2):226-8. PubMed ID: 20476878
[TBL] [Abstract][Full Text] [Related]
18. Management of children with thrombocytopenia-absent radius syndrome: an institutional experience.
Coccia P; Ruggiero A; Mastrangelo S; Attinà G; Scalzone M; Pittiruti M; Zampino G; Maurizi P; Riccardi R
J Paediatr Child Health; 2012 Feb; 48(2):166-9. PubMed ID: 21771154
[TBL] [Abstract][Full Text] [Related]
19. TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Boussion S; Escande F; Jourdain AS; Smol T; Brunelle P; Duhamel C; Alembik Y; Attié-Bitach T; Baujat G; Bazin A; Bonnière M; Carassou P; Carles D; Devisme L; Goizet C; Goldenberg A; Grotto S; Guichet A; Jouk PS; Loeuillet L; Mechler C; Michot C; Pelluard F; Putoux A; Whalen S; Ghoumid J; Manouvrier-Hanu S; Petit F
Hum Mutat; 2020 Jul; 41(7):1220-1225. PubMed ID: 32227665
[TBL] [Abstract][Full Text] [Related]
20. Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome.
Fiedler J; Strauss G; Wannack M; Schwiebert S; Seidel K; Henning K; Klopocki E; Schmugge M; Gaedicke G; Schulze H
Haematologica; 2012 Jan; 97(1):73-81. PubMed ID: 21933853
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
