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6. 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; 2008 Jun; 102(11):1433-42. PubMed ID: 18451335 [TBL] [Abstract][Full Text] [Related]
7. TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype. Cenni C; Andres S; Hempel M; Strom TM; Thomas E; Davies A; Timoney N; Frigiola A; Logan M; Holder-Espinasse M Eur J Med Genet; 2021 Jul; 64(7):104213. PubMed ID: 33930582 [TBL] [Abstract][Full Text] [Related]
9. 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; 2012 Aug; 20(8):863-9. PubMed ID: 22333898 [TBL] [Abstract][Full Text] [Related]
10. Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestations. Varela D; Varela T; Conceição N; Ferreira Â; Marques N; Silva AP; Azevedo P; Pereira S; Camacho A; de Jesus I; Cancela ML Mol Genet Genomics; 2021 Jul; 296(4):809-821. PubMed ID: 33866394 [TBL] [Abstract][Full Text] [Related]
11. Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. Brassington AM; Sung SS; Toydemir RM; Le T; Roeder AD; Rutherford AE; Whitby FG; Jorde LB; Bamshad MJ Am J Hum Genet; 2003 Jul; 73(1):74-85. PubMed ID: 12789647 [TBL] [Abstract][Full Text] [Related]
12. Novel TBX5 duplication in a Japanese family with Holt-Oram syndrome. Kimura M; Kikuchi A; Ichinoi N; Kure S Pediatr Cardiol; 2015 Jan; 36(1):244-7. PubMed ID: 25274398 [TBL] [Abstract][Full Text] [Related]
16. A novel de novo Ríos-Serna LJ; Díaz-Ordoñez L; Candelo E; Pachajoa H Appl Clin Genet; 2018; 11():157-162. PubMed ID: 30538526 [TBL] [Abstract][Full Text] [Related]
17. Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation. Baban A; Pitto L; Pulignani S; Cresci M; Mariani L; Gambacciani C; Digilio MC; Pongiglione G; Albanese S Am J Med Genet A; 2014 Jun; 164A(6):1419-24. PubMed ID: 24664498 [TBL] [Abstract][Full Text] [Related]
18. 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; 2005 Nov; 58(5):981-6. PubMed ID: 16183809 [TBL] [Abstract][Full Text] [Related]
19. Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families. Gruenauer-Kloevekorn C; Froster UG Ann Genet; 2003; 46(1):19-23. PubMed ID: 12818525 [TBL] [Abstract][Full Text] [Related]