147 related articles for article (PubMed ID: 22201559)
21. 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]
22. Thrombocytopenia with absent radius in a boy and his uncle.
Schnur RE; Eunpu DL; Zackai EH
Am J Med Genet; 1987 Sep; 28(1):117-23. PubMed ID: 3314504
[TBL] [Abstract][Full Text] [Related]
23. First-trimester diagnosis of thrombocytopenia-absent radius syndrome using virtual reality.
Baken L; Groenenberg IAL; Hoogeboom AJM; Koning AHJ; Exalto N
Clin Dysmorphol; 2014 Apr; 23(2):71-73. PubMed ID: 24556603
[No Abstract] [Full Text] [Related]
24. Intermittent thrombocytopenia and absent radii: report of a patient with additional unusual manifestations.
van Haeringen A; Veenstra F; Maaswinkel-Mooij PD; van de Kamp JJ
Am J Med Genet; 1989 Oct; 34(2):202-6. PubMed ID: 2816998
[TBL] [Abstract][Full Text] [Related]
25. T-Cell Acute Lymphoblastic Leukemia in a Young Adult With Thrombocytopenia-absent Radius Syndrome: A Case Report and Review of the Literature.
Beauvais D; Cabannes-Hamy A; Leblanc T; Dhédin N; Magda A; Cuccuini W; Clappier E; Vial Y; Boissel N
J Pediatr Hematol Oncol; 2021 Aug; 43(6):232-235. PubMed ID: 32815886
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. The Pathogenesis of Radial Ray Deficiency in Thrombocytopenia-Absent Radius (TAR) Syndrome.
Al-Qattan MM
J Coll Physicians Surg Pak; 2016 Nov; 26(11):912-916. PubMed ID: 27981927
[TBL] [Abstract][Full Text] [Related]
28. [Thrombocytopenia and absent radii syndrome (TAR). Case report and literature discussion].
Kaspers GJ; Schreuder CH; Veerman AJ
Tijdschr Kindergeneeskd; 1989 Aug; 57(4):141-6. PubMed ID: 2678600
[TBL] [Abstract][Full Text] [Related]
29. Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects.
Travessa AM; Dias P; Santos A; Custódio S; Sousa A; Sousa AB
Taiwan J Obstet Gynecol; 2020 Mar; 59(2):318-322. PubMed ID: 32127157
[TBL] [Abstract][Full Text] [Related]
30. Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing.
Nicchia E; Giordano P; Greco C; De Rocco D; Savoia A
Int J Lab Hematol; 2016 Aug; 38(4):412-8. PubMed ID: 27320760
[TBL] [Abstract][Full Text] [Related]
31. Lower limb anomalies in the thrombocytopenia absent-radius (TAR) syndrome.
Ray R; Zorn E; Kelly T; Hall JG; Sommer A
Am J Med Genet; 1980; 7(4):523-8. PubMed ID: 7211961
[TBL] [Abstract][Full Text] [Related]
32. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
Albers CA; Paul DS; Schulze H; Freson K; Stephens JC; Smethurst PA; Jolley JD; Cvejic A; Kostadima M; Bertone P; Breuning MH; Debili N; Deloukas P; Favier R; Fiedler J; Hobbs CM; Huang N; Hurles ME; Kiddle G; Krapels I; Nurden P; Ruivenkamp CA; Sambrook JG; Smith K; Stemple DL; Strauss G; Thys C; van Geet C; Newbury-Ecob R; Ouwehand WH; Ghevaert C
Nat Genet; 2012 Feb; 44(4):435-9, S1-2. PubMed ID: 22366785
[TBL] [Abstract][Full Text] [Related]
33. Expanding the phenotype of thrombocytopenia absent radius syndrome with hypospadias.
Miertuš J; Maltese PE; Hýblová M; Tomková E; Ďurovčíková D; Rísová V; Bertelli M
J Biotechnol; 2020 Mar; 311():44-48. PubMed ID: 32109542
[TBL] [Abstract][Full Text] [Related]
34. Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in
Monteiro C; Gonçalves A; Oliveira J; Salvado R; Tomaz J; Morais S; Lima M; Santos R
Int J Mol Sci; 2022 Aug; 23(17):. PubMed ID: 36077017
[TBL] [Abstract][Full Text] [Related]
35. [Analysis of clinical characteristics and molecular genetics in eighteen patients with 1q21.1 microdeletion syndrome].
Luo X; Niu H; Zhou F; Li S; Li Z; Guo Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Apr; 41(4):480-485. PubMed ID: 38565516
[TBL] [Abstract][Full Text] [Related]
36. [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]
37. Defective c-Mpl signaling in the syndrome of thrombocytopenia with absent radii.
Ballmaier M; Schulze H; Cremer M; Folman CC; Strauss G; Welte K
Stem Cells; 1998; 16 Suppl 2():177-84. PubMed ID: 11012189
[TBL] [Abstract][Full Text] [Related]
38. Tetraphocomelia in the syndrome of thrombocytopenia with absent radii (TAR syndrome).
Anyane-Yeboa K; Jaramillo S; Nagel C; Grebin B
Am J Med Genet; 1985 Apr; 20(4):571-6. PubMed ID: 3993682
[TBL] [Abstract][Full Text] [Related]
39. Acute lymphoidic leukemia in a patient with thrombocytopenia/absent radii (Tar) syndrome.
Camitta BM; Rock A
Am J Pediatr Hematol Oncol; 1993 Aug; 15(3):335-7. PubMed ID: 8328649
[TBL] [Abstract][Full Text] [Related]
40. Thumb function and appearance in thrombocytopenia: absent radius syndrome.
Goldfarb CA; Wustrack R; Pratt JA; Mender A; Manske PR
J Hand Surg Am; 2007 Feb; 32(2):157-61. PubMed ID: 17275588
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
