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Journal Abstract Search

310 related items for PubMed ID: 11242111

  • 21. [Phenotypic and genotypic analysis of a fetus carrying an intermediate 22q11.2 deletion encompassing the CRKL gene].
    Lin S, Zheng X, Gu H, Li M.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Jun 10; 34(3):393-397. PubMed ID: 28604963
    [Abstract] [Full Text] [Related]

  • 22. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
    Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, Werth M, Westland R, Vivante A, Makar GS, Bodria M, Sampson MG, Gillies CE, Vega-Warner V, Maiorana M, Petrey DS, Honig B, Lozanovski VJ, Salomon R, Heidet L, Carpentier W, Gaillard D, Carrea A, Gesualdo L, Cusi D, Izzi C, Scolari F, van Wijk JA, Arapovic A, Saraga-Babic M, Saraga M, Kunac N, Samii A, McDonald-McGinn DM, Crowley TB, Zackai EH, Drozdz D, Miklaszewska M, Tkaczyk M, Sikora P, Szczepanska M, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Darlow JM, Puri P, Barton D, Casolari E, Furth SL, Warady BA, Gucev Z, Hakonarson H, Flogelova H, Tasic V, Latos-Bielenska A, Materna-Kiryluk A, Allegri L, Wong CS, Drummond IA, D'Agati V, Imamoto A, Barasch JM, Hildebrandt F, Kiryluk K, Lifton RP, Morrow BE, Jeanpierre C, Papaioannou VE, Ghiggeri GM, Gharavi AG, Katsanis N, Sanna-Cherchi S.
    N Engl J Med; 2017 Feb 23; 376(8):742-754. PubMed ID: 28121514
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  • 23. 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
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  • 25. The DiGeorge anomaly (CATCH 22, DiGeorge/velocardiofacial syndrome).
    Hong R.
    Semin Hematol; 1998 Oct 01; 35(4):282-90. PubMed ID: 9801257
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  • 26. Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome.
    Momma K.
    Am J Cardiol; 2010 Jun 01; 105(11):1617-24. PubMed ID: 20494672
    [Abstract] [Full Text] [Related]

  • 27. Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome.
    Sullivan KE.
    Immunol Allergy Clin North Am; 2008 May 01; 28(2):353-66. PubMed ID: 18424337
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  • 28. Cloning and comparative mapping of the DiGeorge syndrome critical region in the mouse.
    Sutherland HF, Kim UJ, Scambler PJ.
    Genomics; 1998 Aug 15; 52(1):37-43. PubMed ID: 9740669
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  • 29. Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.
    Yan J, Keener VW, Bi W, Walz K, Bradley A, Justice MJ, Lupski JR.
    Hum Mol Genet; 2004 Nov 01; 13(21):2613-24. PubMed ID: 15459175
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  • 31. 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.
    Alberti A, Romano C, Falco M, Calì F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M.
    Clin Genet; 2007 Feb 01; 71(2):177-82. PubMed ID: 17250668
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  • 32. Differential gene expression in the hippocampus of the Df1/+ mice: a model for 22q11.2 deletion syndrome and schizophrenia.
    Sivagnanasundaram S, Fletcher D, Hubank M, Illingworth E, Skuse D, Scambler P.
    Brain Res; 2007 Mar 30; 1139():48-59. PubMed ID: 17292336
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  • 37. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1.
    Jerome LA, Papaioannou VE.
    Nat Genet; 2001 Mar 30; 27(3):286-91. PubMed ID: 11242110
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