320 related articles for article (PubMed ID: 22333898)
1. 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]
2. 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]
3. 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]
4. Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome.
Patterson J; Coats C; McGowan R
Am J Med Genet A; 2020 Jul; 182(7):1725-1734. PubMed ID: 32449309
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. A new mutation in the TBX5 gene in Holt-Oram syndrome: two cases in the same family and prenatal diagnosis.
Atik T; Dervisoglu H; Onay H; Ozkinay F; Cogulu O
J Trop Pediatr; 2014 Jun; 60(3):257-9. PubMed ID: 24408148
[TBL] [Abstract][Full Text] [Related]
7. 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; 2015 Apr; 560(2):129-36. PubMed ID: 25680289
[TBL] [Abstract][Full Text] [Related]
8. Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.
Jhang WK; Lee BH; Kim GH; Lee JO; Yoo HW
Cardiol Young; 2015 Aug; 25(6):1093-8. PubMed ID: 25216260
[TBL] [Abstract][Full Text] [Related]
9. Novel compound heterozygous TBX5 variants may induce hypoplastic left heart syndrome.
Miyao N; Hirono K; Hata Y; Yoshimura N; Ichida F
Pediatr Int; 2019 Jun; 61(6):607-609. PubMed ID: 31215120
[No Abstract] [Full Text] [Related]
10. Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C.
Koçak Eker H; Altunoglu U; Toksoy G; Kayserili H
Clin Dysmorphol; 2016 Oct; 25(4):192-4. PubMed ID: 27552067
[No Abstract] [Full Text] [Related]
11. 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]
12. [Holt-Oram syndrome: study of 7 cases].
Martínez-García M; Lorda-Sanchez I; García-Hoyos M; Ramos C; Ayuso C; Trujillo-Tiebas MJ
Med Clin (Barc); 2010 Nov; 135(14):653-7. PubMed ID: 21070912
[TBL] [Abstract][Full Text] [Related]
13. TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant.
Møller Nielsen AK; Dehn AM; Hjortdal V; Larsen LA
Eur J Med Genet; 2024 Apr; 68():104920. PubMed ID: 38336121
[TBL] [Abstract][Full Text] [Related]
14. TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome.
Guo DF; Li RG; Yuan F; Shi HY; Hou XM; Qu XK; Xu YJ; Zhang M; Liu X; Jiang JQ; Yang YQ; Qiu XB
Mol Med Rep; 2016 May; 13(5):4349-56. PubMed ID: 27035640
[TBL] [Abstract][Full Text] [Related]
15. Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.
Vanlerberghe C; Jourdain AS; Ghoumid J; Frenois F; Mezel A; Vaksmann G; Lenne B; Delobel B; Porchet N; Cormier-Daire V; Smol T; Escande F; Manouvrier-Hanu S; Petit F
Eur J Hum Genet; 2019 Mar; 27(3):360-368. PubMed ID: 30552424
[TBL] [Abstract][Full Text] [Related]
16. A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.
Al-Qattan MM; Abou Al-Shaar H
Saudi Med J; 2015 Aug; 36(8):980-2. PubMed ID: 26219450
[TBL] [Abstract][Full Text] [Related]
17. KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5.
Darwich R; Li W; Yamak A; Komati H; Andelfinger G; Sun K; Nemer M
Hum Mol Genet; 2017 Mar; 26(5):942-954. PubMed ID: 28164238
[TBL] [Abstract][Full Text] [Related]
18. Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.
Borozdin W; Bravo Ferrer Acosta AM; Bamshad MJ; Botzenhart EM; Froster UG; Lemke J; Schinzel A; Spranger S; McGaughran J; Wand D; Chrzanowska KH; Kohlhase J
Hum Mutat; 2006 Sep; 27(9):975-6. PubMed ID: 16917909
[TBL] [Abstract][Full Text] [Related]
19. Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum.
Bogarapu S; Bleyl SB; Calhoun A; Viskochil D; Saarel EV; Everitt MD; Frank DU
Am J Med Genet A; 2014 May; 164A(5):1304-9. PubMed ID: 24664963
[TBL] [Abstract][Full Text] [Related]
20. Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.
Alby C; Bessieres B; Bieth E; Attie-Bitach T; Fermont L; Citony I; Razavi F; Vekemans M; Escande F; Manouvrier S; Malan V; Amiel J
Am J Med Genet A; 2013 Jul; 161A(7):1797-802. PubMed ID: 23713051
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
