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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: arnold s. 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.
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. Among authors: arnold s. 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.
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. Among authors: arnold s. PLoS One. 2013 May 6;8(5):e62519. doi: 10.1371/journal.pone.0062519. Print 2013. PLoS One. 2013. PMID: 23671607 Free PMC article.
Pathways systematically associated to Hirschsprung's disease.
Fernández RM, Bleda M, Luzón-Toro B, García-Alonso L, Arnold S, Sribudiani Y, Besmond C, Lantieri F, Doan B, Ceccherini I, Lyonnet S, Hofstra RM, Chakravarti A, Antiñolo G, Dopazo J, Borrego S. Fernández RM, et al. Among authors: arnold s. Orphanet J Rare Dis. 2013 Dec 2;8:187. doi: 10.1186/1750-1172-8-187. Orphanet J Rare Dis. 2013. PMID: 24289864 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: arnold s. 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.
Evidence that minocycline treatment confounds the interpretation of neurofilament as a biomarker.
Gentile JE, Heiss C, Corridon TL, Mortberg MA, Fruhwürth S, Guzman K, Grötschel L, Chan K, Herring NC, Janicki T, Nhass R, Sarathy JM, Erickson B, Kunz R, Erickson A, Braun C, Henry KT, Bry L, Arnold SE, Minikel EV, Zetterberg H, Vallabh SM. Gentile JE, et al. Among authors: arnold se. medRxiv [Preprint]. 2024 May 2:2024.05.01.24306384. doi: 10.1101/2024.05.01.24306384. medRxiv. 2024. PMID: 38746398 Free PMC article. Preprint.
2,360 results