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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

296 related items for PubMed ID: 32449309

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  • 2. 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
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  • 3. 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
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  • 4. 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
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  • 7. MicroRNA 19a replacement partially rescues fin and cardiac defects in zebrafish model of Holt Oram syndrome.
    Chiavacci E, D'Aurizio R, Guzzolino E, Russo F, Baumgart M, Groth M, Mariani L, D'Onofrio M, Arisi I, Pellegrini M, Cellerino A, Cremisi F, Pitto L.
    Sci Rep; 2015 Dec 14; 5():18240. PubMed ID: 26657204
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  • 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 14; 25(6):1093-8. PubMed ID: 25216260
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  • 9. 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
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  • 10. Exome sequencing identifies a c.148-1G>C mutation of TBX5 in a Holt-Oram family with unusual genotype-phenotype correlations.
    Guo Q, Shen J, Liu Y, Pu T, Sun K, Chen S.
    Cell Physiol Biochem; 2015 Apr 15; 37(3):1066-74. PubMed ID: 26401820
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  • 12. A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome.
    Morine M, Kohmoto T, Masuda K, Inagaki H, Watanabe M, Naruto T, Kurahashi H, Maeda K, Imoto I.
    Am J Med Genet A; 2015 Dec 15; 167A(12):3192-6. PubMed ID: 26780237
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  • 14. Novel TBX5 duplication in a Japanese family with Holt-Oram syndrome.
    Kimura M, Kikuchi A, Ichinoi N, Kure S.
    Pediatr Cardiol; 2015 Jan 15; 36(1):244-7. PubMed ID: 25274398
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  • 15. 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 15; 60(3):257-9. PubMed ID: 24408148
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  • 16. 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 15; 68():104920. PubMed ID: 38336121
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  • 18. Congenital heart diseases and their association with the variant distribution features on susceptibility genes.
    Su W, Zhu P, Wang R, Wu Q, Wang M, Zhang X, Mei L, Tang J, Kumar M, Wang X, Su L, Dong N.
    Clin Genet; 2017 Mar 15; 91(3):349-354. PubMed ID: 27426723
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