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Journal Abstract Search

319 related items for 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
    [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
    [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
    [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
    [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
    [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
    [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 15; 560(2):129-36. PubMed ID: 25680289
    [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 15; 25(6):1093-8. PubMed ID: 25216260
    [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 15; 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 15; 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 15; 296(4):809-821. PubMed ID: 33866394
    [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 13; 135(14):653-7. PubMed ID: 21070912
    [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 13; 68():104920. PubMed ID: 38336121
    [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; 13(5):4349-56. PubMed ID: 27035640
    [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 13; 27(3):360-368. PubMed ID: 30552424
    [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 13; 36(8):980-2. PubMed ID: 26219450
    [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 01; 26(5):942-954. PubMed ID: 28164238
    [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 01; 27(9):975-6. PubMed ID: 16917909
    [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 01; 164A(5):1304-9. PubMed ID: 24664963
    [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 01; 161A(7):1797-802. PubMed ID: 23713051
    [Abstract] [Full Text] [Related]

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