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TAR syndrome相关文献:
TAR syndrome.
Lourenço MH, Boissel N, Funck-Brentano T.
Joint Bone Spine. 2023 Dec;90(6):105584. doi: 10.1016/j.jbspin.2023.105584. Epub 2023 Apr 29.
PMID:37127257
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 26;44(4):435-9, S1-2. doi: 10.1038/ng.1083.
PMID:22366785
Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment.
Strauss G, Mott K, Klopocki E, Schulze H.
Hamostaseologie. 2023 Aug;43(4):252-260. doi: 10.1055/a-2088-1801. Epub 2023 Aug 23.
PMID:37611607
Thrombocytopenia Absent Radius Syndrome.
Petit F, Boussion S.
2009 Dec 8 [updated 2023 Nov 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301781
Thrombocytopenia-absent radius syndrome.
Toriello HV.
Semin Thromb Hemost. 2011 Sep;37(6):707-12. doi: 10.1055/s-0031-1291381. Epub 2011 Nov 18.
PMID:22102274
[Thrombocytopenia-absent radius, TAR syndrome].
Ishikiriyama S.
Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):727-8.
PMID:11528990
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.
PMID:27981927
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. doi: 10.1016/j.exphem.2008.09.004. Epub 2008 Nov 22.
PMID:19028006
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. doi: 10.1016/j.gde.2013.02.015. Epub 2013 Apr 17.
PMID:23602329
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. doi: 10.1002/humu.24021. Epub 2020 Apr 6.
PMID:32227665
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