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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
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; 1993–2024.
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
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
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-absent radius, TAR syndrome].
Ishikiriyama S.
Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):727-8.
PMID:11528990
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
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; 1q21.1 Study Group.
Eur J Hum Genet. 2012 Jul;20(7):754-61. doi: 10.1038/ejhg.2012.6. Epub 2012 Feb 8.
PMID:22317977
Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1.
Pang H, Yu X, Kim YM, Wang X, Jinkins JK, Yin J, Li S, Gu H.
Front Genet. 2020 Jun 23;11:577. doi: 10.3389/fgene.2020.00577. eCollection 2020.
PMID:32655619
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