Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 138

1.

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.

2.

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. Epub 2007 Jan 8.

PMID:
17210672
3.

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.

4.

Congenital diaphragmatic hernia associated with duplication of 11q23-qter.

Klaassens M, Scott DA, van Dooren M, Hochstenbach R, Eussen HJ, Cai WW, Galjaard RJ, Wouters C, Poot M, Laudy J, Lee B, Tibboel D, de Klein A.

Am J Med Genet A. 2006 Jul 15;140(14):1580-6.

5.

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.

6.

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
7.

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.

8.

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. doi: 10.1002/ajmg.a.33618.

9.

Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics.

Kantarci S, Donahoe PK.

Am J Med Genet C Semin Med Genet. 2007 May 15;145C(2):217-26. Review.

PMID:
17436295
10.

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.

11.

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.

Slavotinek AM, Moshrefi A, Davis R, Leeth E, Schaeffer GB, Burchard GE, Shaw GM, James B, Ptacek L, Pennacchio LA.

Eur J Hum Genet. 2006 Sep;14(9):999-1008. Epub 2006 May 31.

12.

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.

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.

Am J Med Genet A. 2006 Jan 1;140(1):17-23. doi: 10.1002/ajmg.a.31025. Erratum in: Am J Med Genet A. 2006 May 1;140(9):1031. Blaise, F [added].

13.

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.

14.

Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2.

Sanford EF, Bermudez-Wagner K, Jeng LJ, Rauen KA, Slavotinek AM.

Am J Med Genet A. 2011 Nov;155A(11):2816-20. doi: 10.1002/ajmg.a.34247. Epub 2011 Sep 30.

PMID:
21965155
15.

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia.

Wat MJ, Enciso VB, Wiszniewski W, Resnick T, Bader P, Roeder ER, Freedenberg D, Brown C, Stankiewicz P, Cheung SW, Scott DA.

J Med Genet. 2010 Nov;47(11):777-81. doi: 10.1136/jmg.2009.075903. Epub 2010 Oct 4.

16.

Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.

Goumy C, Laffargue F, Eymard-Pierre E, Kemeny S, Gay-Bellile M, Gouas L, Gallot D, Francannet C, Tchirkov A, Pebrel-Richard C, Vago P.

Am J Med Genet A. 2015 Jan;167A(1):250-3. doi: 10.1002/ajmg.a.36840. Epub 2014 Nov 25.

PMID:
25425496
17.

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;76(5):877-82. Epub 2005 Mar 4.

18.

Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia.

Brady PD, DeKoninck P, Fryns JP, Devriendt K, Deprest JA, Vermeesch JR.

Prenat Diagn. 2013 Dec;33(13):1283-92. doi: 10.1002/pd.4244. Epub 2013 Nov 14.

PMID:
24122781
19.

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
20.

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.

Supplemental Content

Support Center