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Items: 12

1.

Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.

Yu L, Sawle AD, Wynn J, Aspelund G, Stolar CJ, Arkovitz MS, Potoka D, Azarow KS, Mychaliska GB, Shen Y, Chung WK.

Hum Mol Genet. 2015 Aug 15;24(16):4764-73. doi: 10.1093/hmg/ddv196. Epub 2015 Jun 1.

2.

Genetic causes of congenital diaphragmatic hernia.

Wynn J, Yu L, Chung WK.

Semin Fetal Neonatal Med. 2014 Dec;19(6):324-30. doi: 10.1016/j.siny.2014.09.003. Epub 2014 Oct 28. Review.

3.

Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.

Longoni M, Russell MK, High FA, Darvishi K, Maalouf FI, Kashani A, Tracy AA, Coletti CM, Loscertales M, Lage K, Ackerman KG, Woods SA, Ward-Melver C, Andrews D, Lee C, Pober BR, Donahoe PK.

Clin Genet. 2015 Apr;87(4):362-7. doi: 10.1111/cge.12395. Epub 2014 Apr 26.

4.

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.

5.

Phf14, a novel regulator of mesenchyme growth via platelet-derived growth factor (PDGF) receptor-α.

Kitagawa M, Takebe A, Ono Y, Imai T, Nakao K, Nishikawa S, Era T.

J Biol Chem. 2012 Aug 10;287(33):27983-96. doi: 10.1074/jbc.M112.350074. Epub 2012 Jun 23.

6.

Mutation in the platelet-derived growth factor receptor alpha inhibits adeno-associated virus type 5 transduction.

Pilz IH, Di Pasquale G, Rzadzinska A, Leppla SH, Chiorini JA.

Virology. 2012 Jun 20;428(1):58-63. doi: 10.1016/j.virol.2012.03.004. Epub 2012 Apr 20.

7.

Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes.

Russell MK, Longoni M, Wells J, Maalouf FI, Tracy AA, Loscertales M, Ackerman KG, Pober BR, Lage K, Bult CJ, Donahoe PK.

Proc Natl Acad Sci U S A. 2012 Feb 21;109(8):2978-83. doi: 10.1073/pnas.1121621109. Epub 2012 Feb 6.

8.

Congenital diaphragmatic defects: proposal for a new classification based on observations in 234 patients.

Ackerman KG, Vargas SO, Wilson JA, Jennings RW, Kozakewich HP, Pober BR.

Pediatr Dev Pathol. 2012 Jul-Aug;15(4):265-74. doi: 10.2350/11-05-1041-OA.1. Epub 2012 Mar 7.

9.

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.

10.

A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect.

Zayed H, Chao R, Moshrefi A, Lopezjimenez N, Delaney A, Chen J, Shaw GM, Slavotinek AM.

Am J Med Genet A. 2010 Apr;152A(4):916-23. doi: 10.1002/ajmg.a.33341.

11.

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.

12.

The effects of imatinib on pregnancy outcome.

Pye SM, Cortes J, Ault P, Hatfield A, Kantarjian H, Pilot R, Rosti G, Apperley JF.

Blood. 2008 Jun 15;111(12):5505-8. doi: 10.1182/blood-2007-10-114900. Epub 2008 Mar 5.

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