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TypeTitleAuthor(s)YearViews
Exonic de novo mutations in sporadic Hirschsprung disease
Proceedings/Conference:
European Journal of Human Genetics
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
Hofstra, RMW; Gui, H; Schriemer, D; Griseri, P; Pelet, A; Ruiz-Ferrer, M; Berrios, C; van Ijcken, W; van den Hout, M; Tam, PKH; Cheng, W; Tang, SM; Eggen, BJL; Matera, I; Ceccherini, I; Amiel, J; Lyonnet, S; Antinolo, G; Borrego, S; Chakravarti, A; Garcia-Barcelo, MM201434
 
Contribution of rare and common variants determine complex diseases - Hirschsprung disease as a model
Journal:
Developmental Biology
Alves, MM; Sribudiani, Y; Brouwer, RWW; Amiel, J; Antinolo, G; Borrego, S; Ceccherini, I; Chakravarti, A; Fernandez, RM; Garcia-Barcelo, MM; Griseri, P; Lyonnet, S; Tam, PKH; van Ijcken, WFJ; Eggen, BJL; te Meerman, GJ; Hofstra, RMW201359
 
Patterns and rates of exonic de novo mutations in sporadic Hirschsprung disease patients
Proceedings/Conference:
European Journal of Human Genetics
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
Gui, H; Schriemer, D; Eggen, BJL; Hofstra, RMW; van Ijcken, W; van den Hout, M; Griseri, P; Matera, I; Ceccherini, I; Pelet, A; Amiel, J; Lyonnet, S; Garcia-Barcelo, M; Tam, PKH; Ruiz-Ferrer, M; Antinolo, G; Borrego, S; Berrios, C; Chakravarti, A201381
 
Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease
Journal:
Human Mutation
Matera, I; Musso, M; Griseri, P; Rusmini, M; Duca, MD; So, MT; Mavilio, D; Miao, X; Tam, PKH; Ravazzolo, R; Ceccherini, I; Garcia-Barcelo, MM2013119
 
Differential contributions of rare and common, coding and noncoding ret mutations to multifactorial hirschsprung disease liability
Journal:
American Journal of Human Genetics
Publisher:
Cell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Emison, ES; GarciaBarcelo, M; Grice, EA; Lantieri, F; Amiel, J; Burzynski, G; Fernandez, RM; Hao, L; Kashuk, C; West, K; Miao, X; Tam, PKH; Griseri, P; Ceccherini, I; Pelet, A; Jannot, AS; De Pontual, L; HenrionCaude, A; Lyonnet, S; Verheij, JBGM; Hofstra, RMW; Antiñolo, G; Borrego, S; McCallion, AS; Chakravarti, A2010728
 
Hirschsprung disease, associated syndromes and genetics: A review
Journal:
Journal of Medical Genetics
Publisher:
BMJ Group. The Journal's web site is located at http://jmg.bmj.com/
Amiel, J; SproatEmison, E; GarciaBarcelo, M; Lantieri, F; Burzynski, G; Borrego, S; Pelet, A; Arnold, S; Miao, X; Griseri, P; Brooks, AS; Antinolo, G; De Pontual, L; ClementZiza, M; Munnich, A; Kashuk, C; West, K; Wong, KKY; Lyonnet, S; Chakravarti, A; Tam, PKH; Ceccherini, I; Hofstra, RMW; Fernandez, R2008506
 
The International Hirschsprung's Disease Consortium: differential liabiilties of coding and non-coding mutations in complex disease
Proceedings/Conference:
53rd Annual International Congress of the British Association of Paediatric Suregons, Stockholm, Sweden, 18-21 July 2006
Tam, PKH; Garcia-Barcelo, MM; Tullio-Pelet, A; Lyonnet, S; Lantieri, F; Kashuk, C; Hofstra, R; Griseri, P; Fernandez, R; Eng, C; Emison, E; Burzynski, G; Ceccherini, I; Borrego, S; Antinolo, G; Amiel, J; West, K; Chakravarti, A2006188
 
Higher prevalence of Hirschsprung disease in China explained by a common RET mutation
Proceedings/Conference:
56th Annual Meeting of the American Society of Human Genetics, New Orleans, U.S.A., 9-13 October 2006
Garcia-Barcelo, MM; Amiel, J; Antinolo, G; Borrego, S; Burzynski, G; Ceccherini, I; Emison, E; Eng, C; Fernandez, R; Griseri, P; Hofstra, R; Kashuk, C; Lantien, F; Lyonnet, S; Miao, X; Tam, PKH; Tullio-Pelet, A; West, K; Chakravarti, A2006156
 
Differential liabilities of rare coding and common non-coding RET mutations explain the multifactorial genetics of Hirschsprung disease.
Proceedings/Conference:
Gordon Research Conference on Human Genetics and Genomics Salve Regina University Newport, RI, USA, July 24-29, 2005
Emison, E; Burzynski, G; Amiel, J; Borrego, S; Ceccherini,, I; Fernandez, R; Garcia-Barcelo, MM; Griseri, P; Hofstra, R; Kashuk, CS; Lantieri, F; Lyonnet, S; Tam, PKH; Pecina, A; Tullio-Pelet,, A; West, K; Chakravarti, A2005177
 
Comparative study of RET single nucleotide polymorphism (SNP) in Chinese and Italian populations suggests ethnic variation in the genetic basis of sporadic Hirschsprung's disease
Proceedings/Conference:
XLI VIII Annual International Congress, British Association of Paediatric Surgeons, London, 17-20 July 2001
Chen, B; Griseri, P; Lesueur, F; Ceccherini, I; Lui, VCH; Lo, CY; Romeo, G; Tam, PKH2001113
 
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