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Items: 1 to 20 of 100

1.

Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.

Longoni M, High FA, Russell MK, Kashani A, Tracy AA, Coletti CM, Hila R, Shamia A, Wells J, Ackerman KG, Wilson JM, Bult CJ, Lee C, Lage K, Pober BR, Donahoe PK.

Proc Natl Acad Sci U S A. 2014 Aug 26;111(34):12450-5. doi: 10.1073/pnas.1412509111. Epub 2014 Aug 8.

2.

Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.

Zhu Q, High FA, Zhang C, Cerveira E, Russell MK, Longoni M, Joy MP, Ryan M, Mil-Homens A, Bellfy L, Coletti CM, Bhayani P, Hila R, Wilson JM, Donahoe PK, Lee C.

Proc Natl Acad Sci U S A. 2018 May 15;115(20):5247-5252. doi: 10.1073/pnas.1714885115. Epub 2018 Apr 30.

3.

Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia.

Longoni M, High FA, Qi H, Joy MP, Hila R, Coletti CM, Wynn J, Loscertales M, Shan L, Bult CJ, Wilson JM, Shen Y, Chung WK, Donahoe PK.

Hum Genet. 2017 Jun;136(6):679-691. doi: 10.1007/s00439-017-1774-y. Epub 2017 Mar 16.

4.

Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.

Yu L, Bennett JT, Wynn J, Carvill GL, Cheung YH, Shen Y, Mychaliska GB, Azarow KS, Crombleholme TM, Chung DH, Potoka D, Warner BW, Bucher B, Lim FY, Pietsch J, Stolar C, Aspelund G, Arkovitz MS; University of Washington Center for Mendelian Genomics, Mefford H, Chung WK.

J Med Genet. 2014 Mar;51(3):197-202. doi: 10.1136/jmedgenet-2013-101989. Epub 2014 Jan 2.

5.

FBN1 contributing to familial congenital diaphragmatic hernia.

Beck TF, Campeau PM, Jhangiani SN, Gambin T, Li AH, Abo-Zahrah R, Jordan VK, Hernandez-Garcia A, Wiszniewski WK, Muzny D, Gibbs RA, Boerwinkle E, Lupski JR, Lee B, Reardon W, Scott DA.

Am J Med Genet A. 2015 Apr;167A(4):831-6. doi: 10.1002/ajmg.a.36960. Epub 2015 Mar 3.

6.

Abnormal lung development in congenital diaphragmatic hernia.

Ameis D, Khoshgoo N, Keijzer R.

Semin Pediatr Surg. 2017 Jun;26(3):123-128. doi: 10.1053/j.sempedsurg.2017.04.011. Epub 2017 Apr 25. Review.

PMID:
28641748
7.

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.

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.

9.

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.

10.

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.

11.

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.

12.

Gene Expression of FRAS1-Related Extracellular Matrix 1 Is Decreased in Nitrofen-Induced Congenital Diaphragmatic Hernia.

Takahashi T, Friedmacher F, Puri P.

Eur J Pediatr Surg. 2016 Feb;26(1):81-5. doi: 10.1055/s-0035-1559884. Epub 2015 Sep 18.

PMID:
26382659
13.

Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies.

Donahoe PK, Longoni M, High FA.

Am J Pathol. 2016 Oct;186(10):2532-43. doi: 10.1016/j.ajpath.2016.07.006. Epub 2016 Aug 24. Review.

14.

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.

15.

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.

16.

Molecular genetics of congenital diaphragmatic defects.

Bielinska M, Jay PY, Erlich JM, Mannisto S, Urban Z, Heikinheimo M, Wilson DB.

Ann Med. 2007;39(4):261-74. Review.

17.

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.

18.

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.

19.

Pathogenesis of congenital diaphragmatic hernia: additional clues regarding the involvement of the endothelin system.

Mesdag V, Andrieux J, Coulon C, Pennaforte T, Storme L, Manouvrier-Hanu S, Petit F.

Am J Med Genet A. 2014 Jan;164A(1):208-12. doi: 10.1002/ajmg.a.36216. Epub 2013 Nov 21.

PMID:
24352915
20.

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.

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