Results 1 to 9 of 9
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Contribution of rare and common variants determine complex diseases - Hirschsprung disease as a modelAlves, 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, RMW201321
Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung diseaseMatera, I; Musso, M; Griseri, P; Rusmini, M; Duca, MD; So, MT; Mavilio, D; Miao, X; Tam, PKH; Ravazzolo, R; Ceccherini, I; Garcia-Barcelo, MM201348
Patterns and rates of exonic de novo mutations in sporadic Hirschsprung disease patientsGui, 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, A201328
Differential contributions of rare and common, coding and noncoding ret mutations to multifactorial hirschsprung disease liabilityEmison, 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, A2010602
Hirschsprung disease, associated syndromes and genetics: A reviewAmiel, 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, R2008399
The International Hirschsprung's Disease Consortium: differential liabiilties of coding and non-coding mutations in complex diseaseTam, 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, A2006127
Higher prevalence of Hirschsprung disease in China explained by a common RET mutationGarcia-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, A2006107
Differential liabilities of rare coding and common non-coding RET mutations explain the multifactorial genetics of Hirschsprung disease.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, A2005104
Comparative study of RET single nucleotide polymorphism (SNP) in Chinese and Italian populations suggests ethnic variation in the genetic basis of sporadic Hirschsprung's diseaseChen, B; Griseri, P; Lesueur, F; Ceccherini, I; Lui, VCH; Lo, CY; Romeo, G; Tam, PKH200163
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