Results 1 to 7 of 7
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TypeTitleAuthor(s)YearViews
Systems biology approaches to the search for disease genes in Hirschsprung‘s 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
Luzon-Toro, B; Bleda, M; Fernandez, RM; Garcia-Alonso, L; Arnold, S; Sribudiani, Y; Besmond, C; Lantieri, F; Torroglosa, A; Enguix-Riego, M; Garcia-Barcelo, MM; Tam, PKH; Ceccherini, I; Lyonnet, S; Hofstra, RM; Chakravarti, A; Antinolo, G; Dopazo, J; Borrego, S201423
 
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease
Journal:
European Journal of Human Genetics
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
Jannot, AS; Amiel, J; Pelet, A; Lantieri, F; Fernandez, RM; Verheij, JBGM; GarciaBarcelo, M; Arnold, S; Ceccherini, I; Borrego, S; Hofstra, RMW; Tam, PKH; Munnich, A; Chakravarti, A; ClergetDarpoux, F; Lyonnet, S2012173
 
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, A2010710
 
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, R2008496
 
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, A2006183
 
Differential liabilities of coding and non-coding mutations in complex disease
Proceedings/Conference:
Annual Meeting of the American Society of Human Genetics. Salt Lake City, USA, October 25-29 2005.
Burzynski, G.; Amiel, J.; Antinolo, G; Borrego,, S.; Ceccherini, I; Emison, E; Eng, C; Fernandez, R; Garcia-Barcelo, MM; Griseri, P.; Hofstra, R; Kashuk, C; Lantieri, F; Lyonnet, S; Tam, PKH; Tullio-Pelet, A; West, K; Chakravarti, A2005124
 
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, A2005164
 
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