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Journal Abstract Search

152 related items for PubMed ID: 34995729

  • 1. There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndrome.
    Westphal DS, Mastantuono E, Seidel H, Riedhammer KM, Hahn A, Vill K, Wagner M.
    Gene; 2022 Mar 10; 814():146167. PubMed ID: 34995729
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  • 3. A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family.
    Chen J, Yuan H, Xie K, Wang X, Tan L, Zou Y, Yang Y, Pan L, Xiao J, Chen G, Liu Y.
    BMC Cardiovasc Disord; 2020 Jan 20; 20(1):27. PubMed ID: 31959127
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  • 4. Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot.
    Weiss K, Applegate C, Wang T, Batista DA.
    Am J Med Genet A; 2015 Nov 20; 167A(11):2702-6. PubMed ID: 26139517
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  • 5. Expanding the phenotype of TAB2 variants and literature review.
    Woods E, Marson I, Coci E, Spiller M, Kumar A, Brady A, Homfray T, Fisher R, Turnpenny P, Rankin J, Kanani F, Platzer K, Ververi A, Emmanouilidou E, Bourboun N, Giannakoulas G, Balasubramanian M.
    Am J Med Genet A; 2022 Nov 20; 188(11):3331-3342. PubMed ID: 35971781
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  • 7. TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.
    Engwerda A, Leenders EKSM, Frentz B, Terhal PA, Löhner K, de Vries BBA, Dijkhuizen T, Vos YJ, Rinne T, van den Berg MP, Roofthooft MTR, Deelen P, van Ravenswaaij-Arts CMA, Kerstjens-Frederikse WS.
    Eur J Hum Genet; 2021 Nov 20; 29(11):1669-1676. PubMed ID: 34456334
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  • 8. 6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype.
    Cheng A, Neufeld-Kaiser W, Byers PH, Liu YJ.
    BMC Cardiovasc Disord; 2020 Mar 17; 20(1):137. PubMed ID: 32183715
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  • 9. Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum.
    Xu W, Graves A, Weisz-Hubshman M, Hegazy L, Magyar C, Liu Z, Nasiotis E, Samee MAH, Burris T, Lalani S, Zhang L.
    Hum Mol Genet; 2023 Mar 06; 32(6):959-970. PubMed ID: 36229919
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  • 10. Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
    Stanley KJ, Kalbfleisch KJ, Moran OM, Chaturvedi RR, Roifman M, Chen X, Manshaei R, Martin N, McDermott S, McNiven V, Myles-Reid D, Nield LE, Reuter MS, Schwartz MLB, Shannon P, Silver R, Somerville C, Teitelbaum R, Zahavich L, Bassett AS, Kim RH, Mital S, Chitayat D, Jobling RK.
    Eur J Hum Genet; 2024 Jul 06; 32(7):795-803. PubMed ID: 38778082
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  • 15. Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.
    Micale L, Morlino S, Carbone A, Carissimo A, Nardella G, Fusco C, Palumbo O, Schirizzi A, Russo F, Mazzoccoli G, Breckpot J, De Luca C, Ferraris A, Giunta C, Grammatico P, Haanpää MK, Mancano G, Forzano G, Cacchiarelli D, Van Esch H, Callewaert B, Rohrbach M, Castori M.
    Genet Med; 2022 Feb 06; 24(2):439-453. PubMed ID: 34906501
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  • 16. Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.
    Chapman G, Moreau JLM, I P E, Szot JO, Iyer KR, Shi H, Yam MX, O'Reilly VC, Enriquez A, Greasby JA, Alankarage D, Martin EMMA, Hanna BC, Edwards M, Monger S, Blue GM, Winlaw DS, Ritchie HE, Grieve SM, Giannoulatou E, Sparrow DB, Dunwoodie SL.
    Hum Mol Genet; 2020 Mar 13; 29(4):566-579. PubMed ID: 31813956
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  • 17. A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome.
    Permanyer E, Laurie S, Blasco-Lucas A, Maldonado G, Amador-Catalan A, Ferrer-Curriu G, Fuste B, Perez ML, Gonzalez-Alujas T, Beltran S, Comas-Riu J, Bardají A, Evangelista A, Galiñanes M.
    Eur J Med Genet; 2020 Apr 13; 63(4):103854. PubMed ID: 31981616
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  • 18. Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome.
    Ackerman JP, Smestad JA, Tester DJ, Qureshi MY, Crabb BA, Mendelsohn NJ, Ackerman MJ.
    Congenit Heart Dis; 2016 Sep 13; 11(5):452-461. PubMed ID: 27452334
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  • 19. Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects.
    Breckpot J, Thienpont B, Arens Y, Tranchevent LC, Vermeesch JR, Moreau Y, Gewillig M, Devriendt K.
    Cytogenet Genome Res; 2011 Sep 13; 135(3-4):251-9. PubMed ID: 21921585
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  • 20. Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.
    Hildebrandt CC, Patel N, Graham JM, Bamshad M, Nickerson DA, White JJ, Marvin CT, Miller DE, University of Washington Center for Mendelian Genomics, Grand KL, Sanchez-Lara PA, Schweitzer D, Al-Zaidan HI, Al Masseri Z, Alkuraya FS, Lin AE.
    Am J Med Genet A; 2021 Jul 13; 185(7):2136-2149. PubMed ID: 33783941
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