Citations for
1HOS1, TBX5
Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.
Al-Qattan MM, Abou Al-Shaar H.
Gene 560(2):129-136. doi: 10.1016/j.gene.2015.02.017. Epub 2015 Feb 11. Review. 2015
2HOS1, TBX5
Novel exons in the Tbx5 gene locus generate protein isoforms with distinct expression domains and function.
Yamak A, Georges RO, Sheikh-Hassani M, Morin M, Komati H, Nemer M.
J Biol Chem Biol Chem. 2015 Jan 25. pii: jbc.M114.634451. [Epub ahead of print] 2015
3HOS1, TBX5
TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.
Patel C, Silcock L, McMullan D, Brueton L, Cox H.
Eur J Hum Genet 20(8):863-9. doi: 10.1038/ejhg.2012.16. Epub 2012 Feb 15. 2012
4HOS1, TBX5
Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.
Boogerd CJ, Dooijes D, Ilgun A, Mathijssen IB, Hordijk R, van de Laar IM, Rump P, Veenstra-Knol HE, Moorman AF, Barnett P, Postma AV.
Cardiovasc Res 88(1):130-9. doi: 10.1093/cvr/cvq178. Epub 2010 Jun 2. Erratum in: Cardiovasc Res. 2011 Jan 1;89(1):253. Mathijssen, Inge B [add 2010
5HOS1, SRSF2, TBX5
Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35.
Fan C, Chen Q, Wang QK.
J Biol Chem 284(38):25653-63. Epub 2009 Jul 31.PMID: 19648116 2009
6HOS1, TBX5
A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation.
Postma AV, van de Meerakker JB, Mathijssen IB, Barnett P, Christoffels VM, Ilgun A, Lam J, Wilde AA, Lekanne Deprez RH, Moorman AF.
Circ Res 102(11):1433-42. Epub 2008 May 1.PMID: 18451335 2008
7TBX5, HOS1
Holt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene.
Tseng YR, Su YN, Lu FL, Jeng SF, Hsieh WS, Chen CY, Chou HC, Peng SS.
Am J Med Genet A 143(9):1012-4. No abstract available. 2007
8TBX5, HOS1
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT.
Pediatr Res 58(5):981-6. Epub 2005 Sep 23. 2005
9TBX5, HOS1
Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome.
Heinritz W, Moschik A, Kujat A, Spranger S, Heilbronner H, Demuth S, Bier A, Tihanyi M, Mundlos S, Gruenauer-Kloevekorn C, Froster UG.
Heart 91(3):383-4. No abstract available. 2005
10HOS1, TBX5
TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts.
Reamon-Buettner SM, Borlak J.
Hum Mutat 24(1):104. 2004
11TBX5, HOS1
Identification of the TBX5 transactivating domain and the nuclear localization signal.
Zaragoza MV, Lewis LE, Sun G, Wang E, Li L, Said-Salman I, Feucht L, Huang T.
Gene 330:9-18. 2004
12ALPL, HOS1
Perinatal hypophosphatasia : radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
Sergi C, Mornet E, Troeger J, Voigtlaender T.
Am J Med Genet 103 : 235-240. 2001
13HOS1, TBX5
Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome.
Yang J, Hu D, Xia J, Yang Y, Ying B, Hu J, Zhou X.
Am J Med Genet 92(4):237-40. 2000
14HOS1
The mutation spectrum in Holt-Oram syndrome.
Cross SJ, Ching YH, Li QY, Armstrong-Buisseret L, Spranger S, Lyonnet S, Bonnet D, Penttinen M, Jonveaux P, Leheup B, Mortier G, Van Ravenswaaij C, Gardiner CA.
J Med Genet 37(10):785-7. No abstract available. 2000
15HOS1, TBX5
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.
Basson CT, et al.
Proc Natl Acad Sci U S A 96(6):2919-2924. 1999
16HOS1, TBX3, TBX5
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.
Li QY, et al.
Nat Genet 15 : 21-29. 1997
17HOS1, TBX5
Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome.
Basson CT, et al.
Nat Genet 15 : 30-35. 1997
18HOS1
A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.
Terrett JA, et al.
Am J Hum Genet 59 : 1337-1342. 1996
19HOS1
The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome).
Basson CT, et al.
N Engl J Med 330 : 885-891. 1994
20HOS1
A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12.
Bonnet D, et al.
Nat Genet 6 : 405-408. 1994
21HOS1
Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q.
Terrett JA, et al.
Nat Genet 6 : 401-404. 1994