Results 1 to 10 of 10
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TypeTitleAuthor(s)YearViews
Exonic de novo mutations in sporadic Hirschsprung disease
Proceedings/Conference:
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, MM201424
 
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, RMW201353
 
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, A201375
 
Functional analyses of RET mutations in Chinese hirschsprung disease patients
Journal:
Birth Defects Research Part A: Clinical and Molecular Teratology
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/102526943
Leon, TYY; So, MT; Lui, VCH; Hofstra, RMW; Tam, PKH; Ngan, ESW; Garcia-Barcelo, MM2012234
 
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, S2012169
 
COGENT (COlorectal cancer GENeTics): An international consortium to study the role of polymorphic variation on the risk of colorectal cancer
Journal:
British Journal of Cancer
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/bjc
Tomlinson, IPM; Dunlop, M; Campbell, H; Zanke, B; Gallinger, S; Hudson, T; Koessler, T; Pharoah, PD; Niittymäkix, I; Tuupanenx, S; Aaltonen, LA; Hemminki, K; Lindblom, A; Försti, A; Sieber, O; Lipton, L; Van Wezel, T; Morreau, H; Wijnen, JT; Devilee, P; Matsuda, K; Nakamura, Y; CastellvíBel, S; RuizPonte, C; Castells, A; Carracedo, A; Ho, JWC; Sham, P; Hofstra, RMW; Vodicka, P; Brenner, H; Hampe, J; Schafmayer, C; Tepel, J; Schreiber, S; Völzke, H; Lerch, MM; Schmidt, CA; Buch, S; Moreno, V; Villanueva, CM; Peterlongo, P; Radice, P; Echeverry, MM; Velez, A; CarvajalCarmona, L; Scott, R; Penegar, S; Broderick, P; Tenesa, A; Houlston, RS2010537
 
Fine mapping of the 9q31 Hirschsprung's disease locus
Journal:
Human Genetics
Publisher:
Springer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Tang, CS; Sribudiani, Y; Miao, XP; De Vries, AR; Burzynski, G; So, MT; Leon, YY; Yip, BH; Osinga, J; Hui, KJWS; Verheij, JBGM; Cherny, SS; Tam, PKH; Sham, PC; Hofstra, RMW; GarciaBarceló, MM2010247
 
Erratum: COGENT (COlorectal cancer GENeTics): An international consortium to study the role of polymorphic variation on the risk of colorectal cancer (British Journal of Cancer 102 (447-454) DOI: 10.1038/sj.bjc.6605338))
Journal:
British Journal of Cancer
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/bjc
Tomlinson, IPM; Dunlop, M; Campbell, H; Zanke, B; Gallinger, S; Hudson, T; Koessler, T; Pharoah, PD; Niittymäki, I; Tuupanen, S; Aaltonen, LA; Hemminki, K; Lindblom, A; Försti, A; Sieber, O; Lipton, L; Van Wezel, T; Morreau, H; Wijnen, JT; Devilee, P; Matsuda, K; Nakamura, Y; CastellvíBel, S; RuizPonte, C; Castells, A; Carracedo, A; Ho, JWC; Sham, P; Hofstra, RMW; Vodicka, P; Brenner, H; Hampe, J; Schafmayer, C; Tepel, J; Schreiber, S; Völzke, H; Lerch, MM; Schmidt, CA; Buch, S; Moreno, V; Villanueva, CM; Peterlongo, P; Radice, P; Echeverry, MM; Velez, A; CarvajalCarmona, L; Scott, R; Penegar, S; Broderick, P; Tenesa, A; Houlston, RS2010187
 
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, A2010708
 
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, R2008494
 
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