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2. Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunit. Berti L, Mittler G, Przemeck GK, Stelzer G, Günzler B, Amati F, Conti E, Dallapiccola B, Hrabé de Angelis M, Novelli G, Meisterernst M. Genomics; 2001 Jun 15; 74(3):320-32. PubMed ID: 11414760 [Abstract] [Full Text] [Related]
3. Isolation of a Drosophila T-box gene closely related to human TBX1. Porsch M, Hofmeyer K, Bausenwein BS, Grimm S, Weber BH, Miassod R, Pflugfelder GO. Gene; 1998 Jun 08; 212(2):237-48. PubMed ID: 9611267 [Abstract] [Full Text] [Related]
4. Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development. Garg V, Yamagishi C, Hu T, Kathiriya IS, Yamagishi H, Srivastava D. Dev Biol; 2001 Jul 01; 235(1):62-73. PubMed ID: 11412027 [Abstract] [Full Text] [Related]
5. The murine homologue of HIRA, a DiGeorge syndrome candidate gene, is expressed in embryonic structures affected in human CATCH22 patients. Wilming LG, Snoeren CA, van Rijswijk A, Grosveld F, Meijers C. Hum Mol Genet; 1997 Feb 01; 6(2):247-58. PubMed ID: 9063745 [Abstract] [Full Text] [Related]
11. Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region. Shiohama A, Sasaki T, Noda S, Minoshima S, Shimizu N. Biochem Biophys Res Commun; 2003 Apr 25; 304(1):184-90. PubMed ID: 12705904 [Abstract] [Full Text] [Related]
12. Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. Stoller JZ, Epstein JA. Hum Mol Genet; 2005 Apr 01; 14(7):885-92. PubMed ID: 15703190 [Abstract] [Full Text] [Related]
17. Phenotypic variability of atypical 22q11.2 deletions not including TBX1. Verhagen JM, Diderich KE, Oudesluijs G, Mancini GM, Eggink AJ, Verkleij-Hagoort AC, Groenenberg IA, Willems PJ, du Plessis FA, de Man SA, Srebniak MI, van Opstal D, Hulsman LO, van Zutven LJ, Wessels MW. Am J Med Genet A; 2012 Oct 01; 158A(10):2412-20. PubMed ID: 22893440 [Abstract] [Full Text] [Related]
20. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Zweier C, Sticht H, Aydin-Yaylagül I, Campbell CE, Rauch A. Am J Hum Genet; 2007 Mar 01; 80(3):510-7. PubMed ID: 17273972 [Abstract] [Full Text] [Related] Page: [Next] [New Search]