HD28088/HD/NICHD NIH HHS/United States[Grant Number] - Search Results

Year	Number of Results
1992	1
1993	6
1995	5
1996	4
1999	2
2000	2
2003	1
2009	1
2010	1
2011	2
2012	2
2013	1
2014	1
2015	2
2022	0

1

Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease.

Gunadi, Kapoor A, Ling AY, Rochadi, Makhmudi A, Herini ES, Sosa MX, Chatterjee S, Chakravarti A. Gunadi, et al. J Pediatr Surg. 2014 Nov;49(11):1614-8. doi: 10.1016/j.jpedsurg.2014.04.011. Epub 2014 Aug 28. J Pediatr Surg. 2014. PMID: 25475805 Free PMC article.

2

Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer.

Jiang Q, Turner T, Sosa MX, Rakha A, Arnold S, Chakravarti A. Jiang Q, et al. Hum Mutat. 2012 Jan;33(1):281-9. doi: 10.1002/humu.21602. Epub 2011 Oct 17. Hum Mutat. 2012. PMID: 21898659 Free PMC article.

3

Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms.

Kapoor A, Jiang Q, Chatterjee S, Chakraborty P, Sosa MX, Berrios C, Chakravarti A. Kapoor A, et al. Hum Mol Genet. 2015 May 15;24(10):2997-3003. doi: 10.1093/hmg/ddv051. Epub 2015 Feb 9. Hum Mol Genet. 2015. PMID: 25666438 Free PMC article.

4

Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.

Jannot AS, Pelet A, Henrion-Caude A, Chaoui A, Masse-Morel M, Arnold S, Sanlaville D, Ceccherini I, Borrego S, Hofstra RM, Munnich A, Bondurand N, Chakravarti A, Clerget-Darpoux F, Amiel J, Lyonnet S. Jannot AS, et al. PLoS One. 2013 May 6;8(5):e62519. doi: 10.1371/journal.pone.0062519. Print 2013. PLoS One. 2013. PMID: 23671607 Free PMC article.

5

Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease.

Jiang Q, Ho YY, Hao L, Nichols Berrios C, Chakravarti A. Jiang Q, et al. PLoS One. 2011;6(6):e21219. doi: 10.1371/journal.pone.0021219. Epub 2011 Jun 21. PLoS One. 2011. PMID: 21712996 Free PMC article.

6

Microsatellite polymorphism linkage map of human chromosome 13q.

Bowcock A, Osborne-Lawrence S, Barnes R, Chakravarti A, Washington S, Dunn C. Bowcock A, et al. Genomics. 1993 Feb;15(2):376-86. doi: 10.1006/geno.1993.1071. Genomics. 1993. PMID: 8095487

7

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.

Jannot AS, Amiel J, Pelet A, Lantieri F, Fernandez RM, Verheij JB, Garcia-Barcelo M, Arnold S, Ceccherini I, Borrego S, Hofstra RM, Tam PK, Munnich A, Chakravarti A, Clerget-Darpoux F, Lyonnet S. Jannot AS, et al. Eur J Hum Genet. 2012 Sep;20(9):917-20. doi: 10.1038/ejhg.2012.35. Epub 2012 Mar 7. Eur J Hum Genet. 2012. PMID: 22395866 Free PMC article.

8

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

Arnold S, Pelet A, Amiel J, Borrego S, Hofstra R, Tam P, Ceccherini I, Lyonnet S, Sherman S, Chakravarti A. Arnold S, et al. Hum Mutat. 2009 May;30(5):771-5. doi: 10.1002/humu.20944. Hum Mutat. 2009. PMID: 19306335 Free PMC article.

9

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, Burzynski G, Fernandez RM, Hao L, Kashuk C, West K, Miao X, Tam PK, Griseri P, Ceccherini I, Pelet A, Jannot AS, de Pontual L, Henrion-Caude A, Lyonnet S, Verheij JB, Hofstra RM, Antiñolo G, Borrego S, McCallion AS, Chakravarti A. Emison ES, et al. Am J Hum Genet. 2010 Jul 9;87(1):60-74. doi: 10.1016/j.ajhg.2010.06.007. Am J Hum Genet. 2010. PMID: 20598273 Free PMC article.

10

Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.

Jiang Q, Arnold S, Heanue T, Kilambi KP, Doan B, Kapoor A, Ling AY, Sosa MX, Guy M, Jiang Q, Burzynski G, West K, Bessling S, Griseri P, Amiel J, Fernandez RM, Verheij JB, Hofstra RM, Borrego S, Lyonnet S, Ceccherini I, Gray JJ, Pachnis V, McCallion AS, Chakravarti A. Jiang Q, et al. Am J Hum Genet. 2015 Apr 2;96(4):581-96. doi: 10.1016/j.ajhg.2015.02.014. Am J Hum Genet. 2015. PMID: 25839327 Free PMC article.

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