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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

124 related items for PubMed ID: 38197531

  • 1. Type-I umbilical-systemic shunt with abnormal connection to azygos vein in fetus with de-novo TBX5 mutation related to Holt-Oram syndrome.
    Achiron R, Har-Toov J, Kivilevitch Z.
    Ultrasound Obstet Gynecol; 2024 May; 63(5):709-711. PubMed ID: 38197531
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  • 2. 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
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  • 3. 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
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  • 4. 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
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  • 7. Holt Oram syndrome: a case report and review of the literature.
    Virdis G, Dessole M, Dessole S, Ambrosini G, Cosmi E, Cherchil PL, Capobianco G.
    Clin Exp Obstet Gynecol; 2016 Aug; 43(1):137-9. PubMed ID: 27048037
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  • 11. 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
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  • 13. Rare cardiac defect in Holt-Oram syndrome.
    Sinha R, Nema C.
    Cardiovasc J Afr; 2012 Mar 12; 23(2):e3-4. PubMed ID: 22447508
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  • 16. 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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  • 18. 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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  • 19. 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 15; 20(8):863-9. PubMed ID: 22333898
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