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Journal Abstract Search

180 related items for PubMed ID: 34741306

  • 1. TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.
    Hanson J, Brezavar D, Hughes S, Amudhavalli S, Fleming E, Zhou D, Alaimo JT, Bonnen PE.
    Clin Genet; 2022 Feb; 101(2):214-220. PubMed ID: 34741306
    [Abstract] [Full Text] [Related]

  • 2. 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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  • 3. 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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  • 4. A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.
    Ritelli M, Morlino S, Giacopuzzi E, Bernardini L, Torres B, Santoro G, Ravasio V, Chiarelli N, D'Angelantonio D, Novelli A, Grammatico P, Colombi M, Castori M.
    Clin Genet; 2018 Jan 10; 93(1):126-133. PubMed ID: 28386937
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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 10; 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 10; 29(11):1669-1676. PubMed ID: 34456334
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  • 8. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
    Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M, Undiagnosed Diseases Network members, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV.
    Am J Hum Genet; 2018 Dec 06; 103(6):948-967. PubMed ID: 30526868
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  • 9. 6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.
    Cheng A, Dinulos MBP, Neufeld-Kaiser W, Rosenfeld J, Kyriss M, Madan-Khetarpal S, Risheg H, Byers PH, Liu YJ.
    Am J Med Genet A; 2017 Jul 06; 173(7):1848-1857. PubMed ID: 28464518
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  • 10. 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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  • 11. ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
    Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert B, Hüffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K, Møller RS, Nielsen JEK, Popp B, Quteineh L, Rønde G, Schönewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring PM, Tümer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA, Pal DK.
    Clin Genet; 2021 Oct 17; 100(4):412-429. PubMed ID: 34216016
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  • 12. Haploinsufficiency of TAB2 causes congenital heart defects in humans.
    Thienpont B, Zhang L, Postma AV, Breckpot J, Tranchevent LC, Van Loo P, Møllgård K, Tommerup N, Bache I, Tümer Z, van Engelen K, Menten B, Mortier G, Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA.
    Am J Hum Genet; 2010 Jun 11; 86(6):839-49. PubMed ID: 20493459
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  • 13. Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease.
    Morton SU, Shimamura A, Newburger PE, Opotowsky AR, Quiat D, Pereira AC, Jin SC, Gurvitz M, Brueckner M, Chung WK, Shen Y, Bernstein D, Gelb BD, Giardini A, Goldmuntz E, Kim RW, Lifton RP, Porter GA, Srivastava D, Tristani-Firouzi M, Newburger JW, Seidman JG, Seidman CE.
    JAMA Cardiol; 2021 Apr 01; 6(4):457-462. PubMed ID: 33084842
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  • 14. Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
    Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S.
    BMC Med Genet; 2020 Mar 12; 21(1):50. PubMed ID: 32164556
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  • 15. 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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  • 16. Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
    Slavotinek AM, Thompson ML, Martin LJ, Gelb BD.
    HGG Adv; 2024 Jul 18; 5(3):100286. PubMed ID: 38521975
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  • 17. 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 18; 24(2):439-453. PubMed ID: 34906501
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  • 18. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.
    Granadillo JL, Chung WK, Hecht L, Corsten-Janssen N, Wegner D, Nij Bijvank SWA, Toler TL, Pineda-Alvarez DE, Douglas G, Murphy JJ, Shimony J, Shinawi M.
    Hum Mutat; 2018 Dec 18; 39(12):1875-1884. PubMed ID: 30157302
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