| 1 | DIH1, NR2F2
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| De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia.
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| High FA, Bhayani P, Wilson JM, Bult CJ, Donahoe PK, Longoni M.
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| Am J Med Genet A Sep;170(9):2457-61. doi: 10.1002/ajmg.a.37830. Epub 2016 Jul 1. 2016
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| 2 | 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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| 3 | DIH1, DUP2PD, DUP2PM
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| Abnormal muscle development of the diaphragm in a fetus with 2p14-p16 duplication.
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| Guilherme R, Guimiot F, Tabet AC, Khung-Savatovsky S, Gauthier E, Nouchy M, Benzacken B, Verloes A, Oury JF, Delezoide AL, Aboura A.
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| Am J Med Genet A 149A(12):2892-7. No abstract available. 2009
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| 4 | DEL15QD, DIH1
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| Kidney abnormalities in persons with monosomy 15q26.
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| Lurie IW.
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| Am J Med Genet A 146A(13):1761-4. Review. No abstract available. 2008
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| 5 | 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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| 6 | DIH1, DEL15QD
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| Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature.
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| Klaassens M, Galjaard RJ, Scott DA, Bruggenwirth HT, van Opstal D, Fox MV, Higgins RR, Cohen-Overbeek TE, Schoonderwaldt EM, Lee B, Tibboel D, de Klein A.
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| Am J Med Genet A 143(18):2204-12. 2007
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| 7 | DIH1
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| Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia.
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| Scott DA, Klaassens M, Holder AM, Lally KP, Fernandes CJ, Galjaard RJ, Tibboel D, de Klein A, Lee B.
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| Hum Mol Genet 16(4):424-30. Epub 2007 Jan 8. 2007
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| 8 | 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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| 9 | 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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| 10 | DIH1, DEL15QD
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| Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.
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| 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.
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| Am J Hum Genet 76(5):877-82. Epub 2005 Mar 4. 2005
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| 11 | 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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| 12 | DIH1
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| Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results.
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| Castiglia L, Fichera M, Romano C, Galesi O, Grillo L, Sturnio M, Failla P.
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| Am J Hum Genet 77(5):892-4. No abstract available. 2005
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| 13 | MEF2A, DIH1
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| Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus?
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| Biggio JR Jr, Descartes MD, Carroll AJ, Holt RL.
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| Am J Med Genet 126A(2):183-5. 2004
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| 14 | DIH1
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| Association of deletions of the chromosomal region 15q24-ter and diaphragmatic hernia: a new case and discussion of the literature.
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| Hengstschlager M, Mittermayer C, Repa C, Drahonsky R, Deutinger J, Bernaschek G.
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| Fetal Diagn Ther 19(6):510-2. Review. 2004
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| 15 | DIH1
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| A genetic model for a central (septum transversum) congenital diaphragmatic hernia in mice lacking Slit3.
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| Yuan W, Rao Y, Babiuk RP, Greer JJ, Wu JY, Ornitz DM.
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| Proc Natl Acad Sci U S A 100(9):5217-22. Epub 2003 Apr 17. Erratum in: Proc Natl Acad Sci U S A. 2003 Jul 8;100(14):8607. 2003
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| 16 | DIH1
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| Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development.
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| Schlembach D, Zenker M, Trautmann U, Ulmer R, Beinder E.
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| Prenat Diagn 21(4):289-92. 2001
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