HD055150/HD/NICHD NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
2005	1
2006	1
2007	4
2008	3
2009	3
2010	2
2011	2
2012	1
2014	1
2015	1
2024	0

1

Genetic tools and algorithms for gene discovery in major congenital anomalies.

Donahoe PK, Noonan KM, Lage K. Donahoe PK, et al. Birth Defects Res A Clin Mol Teratol. 2009 Jan;85(1):6-12. doi: 10.1002/bdra.20546. Birth Defects Res A Clin Mol Teratol. 2009. PMID: 19107955 Free PMC article. No abstract available.

2

Genetic aspects of human congenital diaphragmatic hernia.

Pober BR. Pober BR. Clin Genet. 2008 Jul;74(1):1-15. doi: 10.1111/j.1399-0004.2008.01031.x. Epub 2008 May 28. Clin Genet. 2008. PMID: 18510546 Free PMC article. Review.

3

A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis.

Pober BR, Longoni M, Noonan KM. Pober BR, et al. Birth Defects Res A Clin Mol Teratol. 2009 Jan;85(1):76-81. doi: 10.1002/bdra.20534. Birth Defects Res A Clin Mol Teratol. 2009. PMID: 19089858 Free PMC article. Review.

4

Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.

Pober BR. Pober BR. Am J Med Genet C Semin Med Genet. 2007 May 15;145C(2):158-71. doi: 10.1002/ajmg.c.30126. Am J Med Genet C Semin Med Genet. 2007. PMID: 17436298 Free PMC article. Review.

5

Congenital diaphragmatic hernia and associated cardiovascular malformations: type, frequency, and impact on management.

Lin AE, Pober BR, Adatia I. Lin AE, et al. Am J Med Genet C Semin Med Genet. 2007 May 15;145C(2):201-16. doi: 10.1002/ajmg.c.30131. Am J Med Genet C Semin Med Genet. 2007. PMID: 17436301 Free PMC article. Review.

6

Congenital diaphragmatic hernia and pulmonary hypoplasia: new insights from developmental biology and genetics.

Ackerman KG, Pober BR. Ackerman KG, et al. Am J Med Genet C Semin Med Genet. 2007 May 15;145C(2):105-8. doi: 10.1002/ajmg.c.30133. Am J Med Genet C Semin Med Genet. 2007. PMID: 17436306 Free PMC article. Review. No abstract available.

7

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. Longoni M, et al. Clin Genet. 2015 Apr;87(4):362-7. doi: 10.1111/cge.12395. Epub 2014 Apr 26. Clin Genet. 2015. PMID: 24702427 Free PMC article.

8

Dissecting spatio-temporal protein networks driving human heart development and related disorders.

Lage K, Møllgård K, Greenway S, Wakimoto H, Gorham JM, Workman CT, Bendsen E, Hansen NT, Rigina O, Roque FS, Wiese C, Christoffels VM, Roberts AE, Smoot LB, Pu WT, Donahoe PK, Tommerup N, Brunak S, Seidman CE, Seidman JG, Larsen LA. Lage K, et al. Mol Syst Biol. 2010 Jun 22;6:381. doi: 10.1038/msb.2010.36. Mol Syst Biol. 2010. PMID: 20571530 Free PMC article.

9

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.

Pinto D, Darvishi K, Shi X, Rajan D, Rigler D, Fitzgerald T, Lionel AC, Thiruvahindrapuram B, Macdonald JR, Mills R, Prasad A, Noonan K, Gribble S, Prigmore E, Donahoe PK, Smith RS, Park JH, Hurles ME, Carter NP, Lee C, Scherer SW, Feuk L. Pinto D, et al. Nat Biotechnol. 2011 May 8;29(6):512-20. doi: 10.1038/nbt.1852. Nat Biotechnol. 2011. PMID: 21552272 Free PMC article.

10

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. Kantarci S, et al. Am J Med Genet A. 2006 Jan 1;140(1):17-23. doi: 10.1002/ajmg.a.31025. Am J Med Genet A. 2006. PMID: 16333846 Free PMC article.

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