Martínez-Frías ML, Bermejo Sánchez E, García García A, Pérez Fernández JL, Cucalón Manzanos F, Calvo Aguilar MJ, Ripalda Crespo MJ: An epidemiological study of the thrombocytopenia with radial aplasia syndrome (TAR) in Spain. An Esp Pediatr. 1998, 49: 619-623.
PubMed
Google Scholar
Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, van Berkum KA, McKusick VA: Thrombocytopenia with absent radius (TAR). Med. 1969, 48: 411-439.
Article
CAS
Google Scholar
Geddis AE: Inherited thrombocytopenia: congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. Semin Hematol. 2006, 43: 196-203. 10.1053/j.seminhematol.2006.04.003.
Article
PubMed
CAS
Google Scholar
Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, Konig R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S: Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007, 80: 232-240. 10.1086/510919.
Article
PubMed
CAS
PubMed Central
Google Scholar
Greenhalgh KL, Howell RT, Bottani A, Ancliff PJ, Brunner HG, Verschuuren-Bemelmans CC, Vernon E, Brown KW, Newbury-Ecob RA: Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet. 2002, 39: 876-881. 10.1136/jmg.39.12.876.
Article
PubMed
CAS
PubMed Central
Google Scholar
Hedberg VA, Lipton JM: Thrombocytopenia with absent radii. A review of 100 cases. Am J Pediatr Hematol Oncol. 1988, 10: 51-64. 10.1097/00043426-198821000-00010.
Article
PubMed
CAS
Google Scholar
Hall JG: Thrombocytopenia and absent radius (TAR) syndrome. J Med Genet. 1987, 24: 79-83. 10.1136/jmg.24.2.79.
Article
PubMed
CAS
PubMed Central
Google Scholar
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, et al: Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Gen. 2012, 44: 435-439. 10.1038/ng.1083. S431-432
Article
CAS
Google Scholar
Luthy DA, Hall JG, Graham CB: Prenatal diagnosis of thrombocytopenia with absent radii. Clin Gen. 1979, 15: 495-499.
Article
CAS
Google Scholar
Luthy DA, Mack L, Hirsch J, Cheng E: Prenatal ultrasound diagnosis of thrombocytopenia with absent radii. Am J Obstet Gynecol. 1981, 141: 350-351.
PubMed
CAS
Google Scholar
Shalev E, Weiner E, Feldman E, Cohen H, Zuckerman H: Micrognathia-prenatal ultrasonographic diagnosis. Int J Gynaecol Obstet. 1983, 21: 343-345. 10.1016/0020-7292(83)90027-9.
Article
PubMed
CAS
Google Scholar
Filkins K, Russo J, Bilinki I, Diamond N, Searle B: Prenatal diagnosis of thrombocytopenia absent radius syndrome using ultrasound and fetoscopy. Prenat Diagn. 1984, 4: 139-142. 10.1002/pd.1970040208.
Article
PubMed
CAS
Google Scholar
Donnenfeld AE, Wiseman B, Lavi E, Weiner S: Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis. Prenat Diagn. 1990, 10: 29-35. 10.1002/pd.1970100106.
Article
PubMed
CAS
Google Scholar
Delooz J, Moerman P, Van den Berghe K, Fryns JP: Tetraphocomelia and bilateral femorotibial synostosis. A severe variant of the thrombocytopenia-absent radii (TAR) syndrome?. Genet Couns. 1992, 3: 91-93.
PubMed
CAS
Google Scholar
Labrune P, Pons JC, Khalil M, Mirlesse V, Imbert MC, Odievre M, Daffos F, Tchernia G, Frydman R: Antenatal thrombocytopenia in three patients with TAR (thrombocytopenia with absent radii) syndrome. Prenat Diagn. 1993, 13: 463-466. 10.1002/pd.1970130607.
Article
PubMed
CAS
Google Scholar
Weinblatt M, Petrikovsky B, Bialer M, Kochen J, Harper R: Prenatal evaluation and in utero platelet transfusion for thrombocytopenia absent radii syndrome. Prenat Diagn. 1994, 14: 892-896. 10.1002/pd.1970140922.
Article
PubMed
CAS
Google Scholar
Lee A, Kratochwil A, Deutinger J, Bernaschek G: Three-dimensional ultrasound in diagnosing phocomelia. Ultrasound Obstet Gynecol. 1995, 5: 238-240. 10.1046/j.1469-0705.1995.05040238.x.
Article
PubMed
CAS
Google Scholar
Boute O, Depret-Mosser S, Vinatier D, Manouvrier S, Martin De Lassale E, Farriaux JP, Monnier JC: Prenatal diagnosis of thrombocytopenia-absent radius syndrome. Fetal Diagn Ther. 1996, 11: 224-230. 10.1159/000264307.
Article
PubMed
CAS
Google Scholar
Shelton SD, Paulyson K, Kay HH: Prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery. Prenat Diagn. 1999, 19: 54-57. 10.1002/(SICI)1097-0223(199901)19:1<54::AID-PD452>3.0.CO;2-8.
Article
PubMed
CAS
Google Scholar
Tongsong T, Sirichotiyakul S, Chanprapaph P: Prenatal diagnosis of thrombocytopenia-absent-radius (TAR) syndrome. Ultrasound Obstet Gynecol. 2000, 15: 256-258. 10.1046/j.1469-0705.2000.00047.x.
Article
PubMed
CAS
Google Scholar
Bellver J, Lara C, Perez-Aytes A, Pellicer A, Remohi J, Serra V: First-trimester diagnosis of thrombocytopenia-absent radius (TAR) syndrome in a triplet pregnancy. Prenat Diag. 2005, 25: 332-334. 10.1002/pd.1125.
Article
CAS
Google Scholar
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: Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling. Eur J Med Gen. 2011, 54: e471-e477. 10.1016/j.ejmg.2011.05.001.
Article
Google Scholar
Ward RE, Bixler D, Provisor AJ, Bader P: Parent to child transmission of the thrombocytopenia absent radius (TAR) syndrome. Am J Med Genet Suppl. 1986, 2: 207-214.
Article
PubMed
CAS
Google Scholar
Schnur RE, Eunpu DL, Zackai EH: Thrombocytopenia with absent radius in a boy and his uncle. Am J Med Gen. 1987, 28: 117-123. 10.1002/ajmg.1320280117.
Article
CAS
Google Scholar
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE: A copy number variation morbidity map of developmental delay. Nat Gen. 2011, 43: 838-846. 10.1038/ng.909.
Article
CAS
Google Scholar