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Items: 1 to 20 of 126

1.

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.

2.

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.

3.

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.

4.

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.

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.

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.

7.

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
8.

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
9.

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.

10.

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.

11.

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.

12.

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.

13.

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.

14.

Association of deletions of the chromosomal region 15q24-ter and diaphragmatic hernia: a new case and discussion of the literature.

Hengstschläger M, Mittermayer C, Repa C, Drahonsky R, Deutinger J, Bernaschek G.

Fetal Diagn Ther. 2004 Nov-Dec;19(6):510-2. Review.

PMID:
15539876
15.

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.

16.

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.

17.

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
18.

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.

PMID:
26034137
19.

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.

20.

SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.

Stark Z, Behrsin J, Burgess T, Ritchie A, Yeung A, Tan TY, Brown NJ, Savarirayan R, Patel N.

Am J Med Genet A. 2015 Oct;167A(10):2319-26. doi: 10.1002/ajmg.a.37177. Epub 2015 Jun 8.

PMID:
26059276
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