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Journal Abstract Search

206 related items for PubMed ID: 20799323

  • 1. Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH.
    Kantarci S, Ackerman KG, Russell MK, Longoni M, Sougnez C, Noonan KM, Hatchwell E, Zhang X, Pieretti Vanmarcke R, Anyane-Yeboa K, Dickman P, Wilson J, Donahoe PK, Pober BR.
    Am J Med Genet A; 2010 Oct; 152A(10):2493-504. PubMed ID: 20799323
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  • 2. New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
    Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Heuer C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia BS, Ballif BC, Tsuchiya KD, Shaffer LG.
    Eur J Med Genet; 2011 Oct; 54(1):42-9. PubMed ID: 20951845
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  • 3. Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.
    Wat MJ, Veenma D, Hogue J, Holder AM, Yu Z, Wat JJ, Hanchard N, Shchelochkov OA, Fernandes CJ, Johnson A, Lally KP, Slavotinek A, Danhaive O, Schaible T, Cheung SW, Rauen KA, Tonk VS, Tibboel D, de Klein A, Scott DA.
    J Med Genet; 2011 May; 48(5):299-307. PubMed ID: 21525063
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  • 10. Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia.
    Scott DA, Klaassens M, Holder AM, Lally KP, Fernandes CJ, Galjaard RJ, Tibboel D, de Klein A, Lee B.
    Hum Mol Genet; 2007 Feb 15; 16(4):424-30. PubMed ID: 17210672
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  • 13. Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.
    Klaassens M, van Dooren M, Eussen HJ, Douben H, den Dekker AT, Lee C, Donahoe PK, Galjaard RJ, Goemaere N, de Krijger RR, Wouters C, Wauters J, Oostra BA, Tibboel D, de Klein A.
    Am J Hum Genet; 2005 May 15; 76(5):877-82. PubMed ID: 15750894
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  • 15. A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.
    Arrington CB, Bleyl SB, Matsunami N, Bowles NE, Leppert TI, Demarest BL, Osborne K, Yoder BA, Byrne JL, Schiffman JD, Null DM, DiGeronimo R, Rollins M, Faix R, Comstock J, Camp NJ, Leppert MF, Yost HJ, Brunelli L.
    Am J Med Genet A; 2012 Dec 15; 158A(12):3137-47. PubMed ID: 23165927
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  • 16. Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.
    Yu L, Bennett JT, Wynn J, Carvill GL, Cheung YH, Shen Y, Mychaliska GB, Azarow KS, Crombleholme TM, Chung DH, Potoka D, Warner BW, Bucher B, Lim FY, Pietsch J, Stolar C, Aspelund G, Arkovitz MS, University of Washington Center for Mendelian Genomics, Mefford H, Chung WK.
    J Med Genet; 2014 Mar 15; 51(3):197-202. PubMed ID: 24385578
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  • 17. Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature.
    Klaassens M, Galjaard RJ, Scott DA, Brüggenwirth HT, van Opstal D, Fox MV, Higgins RR, Cohen-Overbeek TE, Schoonderwaldt EM, Lee B, Tibboel D, de Klein A.
    Am J Med Genet A; 2007 Sep 15; 143A(18):2204-12. PubMed ID: 17702015
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  • 19. Congenital diaphragmatic hernia with a pure duplication of chromosome 1q: report of the first surviving case.
    Otake K, Uchida K, Inoue M, Koike Y, Matsushita K, Miki C, Sugiyama T, Kusunoki M.
    Pediatr Surg Int; 2009 Sep 15; 25(9):827-31. PubMed ID: 19629498
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  • 20. Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia.
    Petit F, Andrieux J, Holder-Espinasse M, Bouquillon S, Pennaforte T, Storme L, Manouvrier-Hanu S.
    Eur J Med Genet; 2011 Sep 15; 54(5):e525-7. PubMed ID: 21782985
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