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Page 1
Hirschsprung disease, associated syndromes and genetics: a review.
Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R; Hirschsprung Disease Consortium. Amiel J, et al. Among authors: burzynski g. J Med Genet. 2008 Jan;45(1):1-14. doi: 10.1136/jmg.2007.053959. Epub 2007 Oct 26. J Med Genet. 2008. PMID: 17965226 Review.
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. Among authors: burzynski g. 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.
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. Among authors: burzynski g. 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.
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
Tang CS, Gui H, Kapoor A, Kim JH, Luzón-Toro B, Pelet A, Burzynski G, Lantieri F, So MT, Berrios C, Shin HD, Fernández RM, Le TL, Verheij JB, Matera I, Cherny SS, Nandakumar P, Cheong HS, Antiñolo G, Amiel J, Seo JM, Kim DY, Oh JT, Lyonnet S, Borrego S, Ceccherini I, Hofstra RM, Chakravarti A, Kim HY, Sham PC, Tam PK, Garcia-Barceló MM. Tang CS, et al. Among authors: burzynski g. Hum Mol Genet. 2016 Dec 1;25(23):5265-5275. doi: 10.1093/hmg/ddw333. Hum Mol Genet. 2016. PMID: 27702942 Free PMC article.
Fine mapping of the 9q31 Hirschsprung's disease locus.
Tang CS, Sribudiani Y, Miao XP, de Vries AR, Burzynski G, So MT, Leon YY, Yip BH, Osinga J, Hui KJ, Verheij JB, Cherny SS, Tam PK, Sham PC, Hofstra RM, Garcia-Barceló MM. Tang CS, et al. Among authors: burzynski g. Hum Genet. 2010 Jun;127(6):675-83. doi: 10.1007/s00439-010-0813-8. Epub 2010 Apr 2. Hum Genet. 2010. PMID: 20361209 Free PMC article.
A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.
Brooks AS, Leegwater PA, Burzynski GM, Willems PJ, de Graaf B, van Langen I, Heutink P, Oostra BA, Hofstra RM, Bertoli-Avella AM. Brooks AS, et al. Among authors: burzynski gm. J Med Genet. 2006 Jul;43(7):e35. doi: 10.1136/jmg.2005.038125. J Med Genet. 2006. PMID: 16816022 Free PMC article.
Identifying candidate Hirschsprung disease-associated RET variants.
Burzynski GM, Nolte IM, Bronda A, Bos KK, Osinga J, Plaza Menacho I, Twigt B, Maas S, Brooks AS, Verheij JB, Buys CH, Hofstra RM. Burzynski GM, et al. Am J Hum Genet. 2005 May;76(5):850-8. doi: 10.1086/429589. Epub 2005 Mar 9. Am J Hum Genet. 2005. PMID: 15759212 Free PMC article.
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM. Brooks AS, et al. Among authors: burzynski gm. Am J Hum Genet. 2005 Jul;77(1):120-6. doi: 10.1086/431244. Epub 2005 May 9. Am J Hum Genet. 2005. PMID: 15883926 Free PMC article.
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