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Results: 1 to 20 of 103

1.

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.

Longoni M, Lage K, Russell MK, Loscertales M, Abdul-Rahman OA, Baynam G, Bleyl SB, Brady PD, Breckpot J, Chen CP, Devriendt K, Gillessen-Kaesbach G, Grix AW, Rope AF, Shimokawa O, Strauss B, Wieczorek D, Zackai EH, Coletti CM, Maalouf FI, Noonan KM, Park JH, Tracy AA, Lee C, Donahoe PK, Pober BR.

Am J Med Genet A. 2012 Dec;158A(12):3148-58. doi: 10.1002/ajmg.a.35665. Epub 2012 Nov 19.

PMID:
23165946
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.

Wat MJ, Beck TF, Hernández-García A, Yu Z, Veenma D, Garcia M, Holder AM, Wat JJ, Chen Y, Mohila CA, Lally KP, Dickinson M, Tibboel D, de Klein A, Lee B, Scott DA.

Hum Mol Genet. 2012 Sep 15;21(18):4115-25. doi: 10.1093/hmg/dds241. Epub 2012 Jun 20.

PMID:
22723016
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects.

Keitges EA, Pasion R, Burnside RD, Mason C, Gonzalez-Ruiz A, Dunn T, Masiello M, Gebbia JA, Fernandez CO, Risheg H.

Am J Med Genet A. 2013 Jul;161A(7):1755-8. doi: 10.1002/ajmg.a.35965. Epub 2013 May 21.

PMID:
23696316
[PubMed - indexed for MEDLINE]
4.

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Wat MJ, Shchelochkov OA, Holder AM, Breman AM, Dagli A, Bacino C, Scaglia F, Zori RT, Cheung SW, Scott DA, Kang SH.

Am J Med Genet A. 2009 Aug;149A(8):1661-77. doi: 10.1002/ajmg.a.32896.

PMID:
19606479
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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;158A(12):3137-47. doi: 10.1002/ajmg.a.35664. Epub 2012 Nov 19.

PMID:
23165927
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

Baynam G, Goldblatt J, Walpole I.

Am J Med Genet A. 2008 Jun 15;146A(12):1565-70. doi: 10.1002/ajmg.a.32095. Review.

PMID:
18470924
[PubMed - indexed for MEDLINE]
7.

Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects.

López I, Bafalliu JA, Bernabé MC, García F, Costa M, Guillén-Navarro E.

Prenat Diagn. 2006 Jun;26(6):577-80.

PMID:
16700088
[PubMed - indexed for MEDLINE]
8.

De novo copy number variants are associated with congenital diaphragmatic hernia.

Yu L, Wynn J, Ma L, Guha S, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, LeDuc CA, Costa K, Stolar C, Aspelund G, Arkovitz MS, Chung WK.

J Med Genet. 2012 Oct;49(10):650-9. doi: 10.1136/jmedgenet-2012-101135.

PMID:
23054247
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Downregulation of GATA4 and GATA6 in the heart of rats with nitrofen-induced diaphragmatic hernia.

Takayasu H, Sato H, Sugimoto K, Puri P.

J Pediatr Surg. 2008 Feb;43(2):362-6. doi: 10.1016/j.jpedsurg.2007.10.047.

PMID:
18280291
[PubMed - indexed for MEDLINE]
10.

Gene expression in the developing diaphragm: significance for congenital diaphragmatic hernia.

Clugston RD, Zhang W, Greer JJ.

Am J Physiol Lung Cell Mol Physiol. 2008 Apr;294(4):L665-75. doi: 10.1152/ajplung.00027.2008. Epub 2008 Feb 8.

PMID:
18263670
[PubMed - indexed for MEDLINE]
Free Article
11.

GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease.

Pehlivan T, Pober BR, Brueckner M, Garrett S, Slaugh R, Van Rheeden R, Wilson DB, Watson MS, Hing AV.

Am J Med Genet. 1999 Mar 19;83(3):201-6.

PMID:
10096597
[PubMed - indexed for MEDLINE]
12.

Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects.

Jay PY, Bielinska M, Erlich JM, Mannisto S, Pu WT, Heikinheimo M, Wilson DB.

Dev Biol. 2007 Jan 15;301(2):602-14. Epub 2006 Oct 5.

PMID:
17069789
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients.

Bleyl SB, Moshrefi A, Shaw GM, Saijoh Y, Schoenwolf GC, Pennacchio LA, Slavotinek AM.

Eur J Hum Genet. 2007 Sep;15(9):950-8. Epub 2007 Jun 13.

PMID:
17568391
[PubMed - indexed for MEDLINE]
Free Article
14.

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. Review.

PMID:
17702015
[PubMed - indexed for MEDLINE]
15.

Prenatal retinoic acid up-regulates pulmonary gene expression of COUP-TFII, FOG2, and GATA4 in pulmonary hypoplasia.

Doi T, Sugimoto K, Puri P.

J Pediatr Surg. 2009 Oct;44(10):1933-7. doi: 10.1016/j.jpedsurg.2009.04.027.

PMID:
19853750
[PubMed - indexed for MEDLINE]
16.

Genetic factors in congenital diaphragmatic hernia.

Holder AM, Klaassens M, Tibboel D, de Klein A, Lee B, Scott DA.

Am J Hum Genet. 2007 May;80(5):825-45. Epub 2007 Apr 4. Review.

PMID:
17436238
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1.

Slavotinek A, Lee SS, Davis R, Shrit A, Leppig KA, Rhim J, Jasnosz K, Albertson D, Pinkel D.

J Med Genet. 2005 Sep;42(9):730-6.

PMID:
16141010
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia.

Yu L, Wynn J, Cheung YH, Shen Y, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, Stolar C, Aspelund G, Arkovitz MS, Chung WK.

Hum Genet. 2013 Mar;132(3):285-92. doi: 10.1007/s00439-012-1249-0. Epub 2012 Nov 9.

PMID:
23138528
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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. doi: 10.1136/jmg.2011.089680.

PMID:
21525063
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia.

Slavotinek AM, Moshrefi A, Lopez Jiminez N, Chao R, Mendell A, Shaw GM, Pennacchio LA, Bates MD.

Clin Genet. 2009 May;75(5):429-39. doi: 10.1111/j.1399-0004.2009.01182.x.

PMID:
19459883
[PubMed - indexed for MEDLINE]
Free PMC Article

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