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Journal Abstract Search

155 related items for PubMed ID: 27326128

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  • 4. Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
    Zhao Y, Diacou A, Johnston HR, Musfee FI, McDonald-McGinn DM, McGinn D, Crowley TB, Repetto GM, Swillen A, Breckpot J, Vermeesch JR, Kates WR, Digilio MC, Unolt M, Marino B, Pontillo M, Armando M, Di Fabio F, Vicari S, van den Bree M, Moss H, Owen MJ, Murphy KC, Murphy CM, Murphy D, Schoch K, Shashi V, Tassone F, Simon TJ, Shprintzen RJ, Campbell L, Philip N, Heine-Suñer D, García-Miñaúr S, Fernández L, International 22q11.2 Brain and Behavior ConsortiumSee Table S1., Bearden CE, Vingerhoets C, van Amelsvoort T, Eliez S, Schneider M, Vorstman JAS, Gothelf D, Zackai E, Agopian AJ, Gur RE, Bassett AS, Emanuel BS, Goldmuntz E, Mitchell LE, Wang T, Morrow BE.
    Am J Hum Genet; 2020 Jan 02; 106(1):26-40. PubMed ID: 31870554
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  • 5. A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome.
    Haddad RA, Clines GA, Wyckoff JA.
    Clin Diabetes Endocrinol; 2019 Jan 02; 5():13. PubMed ID: 31428446
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  • 9. Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study.
    Takahashi K, Kido S, Hoshino K, Ogawa K, Ohashi H, Fukushima Y.
    Eur J Pediatr; 1995 Nov 02; 154(11):878-81. PubMed ID: 8582397
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  • 12. Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
    Zhao Y, Wang Y, Shi L, McDonald-McGinn DM, Crowley TB, McGinn DE, Tran OT, Miller D, Lin JR, Zackai E, Johnston HR, Chow EWC, Vorstman JAS, Vingerhoets C, van Amelsvoort T, Gothelf D, Swillen A, Breckpot J, Vermeesch JR, Eliez S, Schneider M, van den Bree MBM, Owen MJ, Kates WR, Repetto GM, Shashi V, Schoch K, Bearden CE, Digilio MC, Unolt M, Putotto C, Marino B, Pontillo M, Armando M, Vicari S, Angkustsiri K, Campbell L, Busa T, Heine-Suñer D, Murphy KC, Murphy D, García-Miñaúr S, Fernández L, International 22q11.2 Brain and Behavior Consortium (IBBC), Zhang ZD, Goldmuntz E, Gur RE, Emanuel BS, Zheng D, Marshall CR, Bassett AS, Wang T, Morrow BE.
    NPJ Genom Med; 2023 Jul 18; 8(1):17. PubMed ID: 37463940
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  • 13. DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.
    Conti E, Grifone N, Sarkozy A, Tandoi C, Marino B, Digilio MC, Mingarelli R, Pizzuti A, Dallapiccola B.
    Eur J Hum Genet; 2003 Apr 18; 11(4):349-51. PubMed ID: 12700609
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  • 14. Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization.
    Chen M, Yang YS, Shih JC, Lin WH, Lee DJ, Lin YS, Chou CH, Cameron AD, Ginsberg NA, Chen CA, Lee ML, Ma GC.
    Ultrasound Obstet Gynecol; 2014 Apr 18; 43(4):396-403. PubMed ID: 23828768
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  • 15. Role of the vascular endothelial growth factor isoforms in retinal angiogenesis and DiGeorge syndrome.
    Stalmans I.
    Verh K Acad Geneeskd Belg; 2005 Apr 18; 67(4):229-76. PubMed ID: 16334858
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  • 16. Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.
    Beaujard MP, Chantot S, Dubois M, Keren B, Carpentier W, Mabboux P, Whalen S, Vodovar M, Siffroi JP, Portnoï MF.
    Eur J Med Genet; 2009 Apr 18; 52(5):321-7. PubMed ID: 19467348
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  • 19. 22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening.
    Sgardioli IC, Vieira TP, Simioni M, Monteiro FP, Gil-da-Silva-Lopes VL.
    J Pediatr Genet; 2015 Mar 18; 4(1):17-22. PubMed ID: 27617111
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  • 20. Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region.
    Zodanu GKE, Oszlánczi M, Havasi K, Kalapos A, Rácz G, Katona M, Ujfalusi A, Nagy O, Széll M, Nagy D.
    Front Genet; 2021 Mar 18; 12():635480. PubMed ID: 33995479
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