Results 1 to 10 of 10
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Exonic de novo mutations in sporadic Hirschsprung disease
European Conference of Human Genetics, Milan, Italy, 31 May - 3 June 2014
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, MM201423
Contribution of rare and common variants determine complex diseases - Hirschsprung disease as a model
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, RMW201350
Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease
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, MM2013107
Patterns and rates of exonic de novo mutations in sporadic Hirschsprung disease patients
European Journal of Human Genetics
Nature Publishing Group. The Journal's web site is located at
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, A201375
Differential contributions of rare and common, coding and noncoding ret mutations to multifactorial hirschsprung disease liability
American Journal of Human Genetics
Cell Press. The Journal's web site is located at
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, A2010705
Hirschsprung disease, associated syndromes and genetics: A review
Journal of Medical Genetics
BMJ Group. The Journal's web site is located at
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, R2008493
The International Hirschsprung's Disease Consortium: differential liabiilties of coding and non-coding mutations in complex disease
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, A2006180
Higher prevalence of Hirschsprung disease in China explained by a common RET mutation
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, A2006143
Differential liabilities of rare coding and common non-coding RET mutations explain the multifactorial genetics of Hirschsprung disease.
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, A2005158
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
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, PKH2001108
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