| 1 | DIH1, DIH2, GATA4, NR2F2
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| A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.
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| 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.
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| Am J Med Genet A 158A(12):3137-47. doi: 10.1002/ajmg.a.35664. Epub 2012 Nov 19.
2012
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| 2 | DEL8P23, DIH2, GATA4
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| Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.
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| Wat MJ, Shchelochkov OA, Holder AM, Breman AM, Dagli A, Bacino C, Scaglia F, Zori RT, Cheung SW, Scott DA, Kang SH.
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| Am J Med Genet A 149A(8):1661-1677. [Epub ahead of print]
2009
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| 3 | DEL8P23, DIH2, CDLS, TANK1
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| Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome.
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| Baynam G, Goldblatt J, Walpole I.
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| Am J Med Genet A 146A(12):1565-70. Review. 2008
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| 4 | DIH1, DIH2, DIH6
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| Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.
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| Pober BR.
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| Am J Med Genet C Semin Med Genet 145(2):158-71. 2007
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| 5 | DIH1, DIH2, DIH6
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| Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome.
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| Kantarci S, Casavant D, Prada C, Russell M, Byrne J, Haug LW, Jennings R, Manning S, Boyd TK, Fryns JP, Holmes LB, Donahoe PK, Lee C, Kimonis V, Pober BR.
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| Am J Med Genet A 140(1):17-23. 2006
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| 6 | CDH2, DIH1, ARRDC4, RGMA, DIH2, CDH1
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| Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.
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| Slavotinek AM, Moshrefi A, Davis R, Leeth E, Schaeffer GB, Burchard GE, Shaw GM, James B, Ptacek L, Pennacchio LA.
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| Eur J Hum Genet 14(9):999-1008. Epub 2006 May 31. 2006
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| 7 | DIH1, DEL8P23, DIH2
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| Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1.
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| Slavotinek A, Lee SS, Davis R, Shrit A, Leppig KA, Rhim J, Jasnosz K, Albertson D, Pinkel D.
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| J Med Genet 42(9):730-6. 2005
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| 8 | DEL8Q23, DIH2
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| Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia.
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| Shimokawa O, Miyake N, Yoshimura T, Sosonkina N, Harada N, Mizuguchi T, Kondoh S, Kishino T, Ohta T, Remco V, Takashima T, Kinoshita A, Yoshiura K, Niikawa N, Matsumoto N.
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| Am J Med Genet A 136(1):49-51. 2005
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