Genotype‐phenotype relationship in hereditary haemorrhagic telangiectasia

Por Letteboer, T G W, Mager, J J, Snijder, R J, Koeleman, B P C, Lindhout, D, van Amstel, J K Ploos, Westermann, C J J
Publicado em 2006

Polymorphisms in ACVRL1 and Endoglin genes are not associated with sporadic and HHT related brain AVMs in Dutch patients

Por Boshuisen, Kim, Brundel, Manon, de Kovel, Carolien G.F., Letteboer, Tom G., Rinkel, Gabriel J.E., Westermann, Cornelis J.J., Kim, Helen, Pawlikowska, Ludmila, Koeleman, Bobby P.C., Klijn, Catharina J.M.
Publicado em 2012

SMAD4 mutations found in unselected HHT patients

Por Gallione, C J, Richards, J A, Letteboer, T G W, Rushlow, D, Prigoda, N L, Leedom, T P, Ganguly, A, Castells, A, van Amstel, J K Ploos, Westermann, C J J, Pyeritz, R E, Marchuk, D A
Publicado em 2006

Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers

Por Ghorbanoghli, Z., Nieuwenhuis, M. H., Houwing-Duistermaat, J. J., Jagmohan-Changur, S., Hes, F. J., Tops, C. M., Wagner, A., Aalfs, C. M., Verhoef, S., Gómez García, E. B., Sijmons, R. H., Menko, F. H., Letteboer, T. G., Hoogerbrugge, N., van Wezel, T., Vasen, H. F. A., Wijnen, J. T.
Publicado no Fam Cancer (2016)

Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans

Por Kawasaki, Kyoko, Freimuth, Julia, Meyer, Dominique S., Lee, Marie M., Tochimoto-Okamoto, Akiko, Benzinou, Michael, Clermont, Frederic F., Wu, Gloria, Roy, Ritu, Letteboer, Tom G. W., Ploos van Amstel, Johannes Kristian, Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaeten, Westermann, Cornelius J. J., Coffey, Robert J., Akhurst, Rosemary J.
Publicado em 2014

Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic tel...

Por Letteboer, Tom G. W., Benzinou, Michael, Merrick, Christopher B., Quigley, David A., Zhau, Kechen, Kim, Il-Jin, To, Minh D., Jablons, David M., van Amstel, Johannes K. P., Westermann, Cornelius J. J., Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaetan, Berg, Jonathan H., Balmain, Allan, Akhurst, Rosemary J.
Publicado no Front Genet (2015)

Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis

Por Hes, Frederik J, Ruano, Dina, Nieuwenhuis, Marry, Tops, Carli M, Schrumpf, Melanie, Nielsen, Maartje, Huijts, Petra E A, Wijnen, Juul T, Wagner, Anja, Gómez García, Encarna B, Sijmons, Rolf H, Menko, Fred H, Letteboer, Tom G W, Hoogerbrugge, Nicoline, Harryvan, Jan, Kampman, Ellen, Morreau, Hans, Vasen, Hans F A, van Wezel, Tom
Publicado em 2013

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and Hereditary Hemorrhagic Telangiectasia

Por Benzinou, Michael, Clermont, Frederic F., Letteboer, Tom G. W., Kim, Jai-hyun, Espejel, Silvia, Harradine, Kelly A., Arbelaez, Juan, Luu, Minh Thu, Roy, Ritu, Quigley, David, Higgins, Mamie Nakayama, Zaid, Musa, Aouizerat, Bradley E., van Amstel, Johannes Kristian Ploos, Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaetan, Plauchu, Henri, Hughes, Christopher C. W., Westermann, Cornelius J. J., Akhurst, Rosemary J.
Publicado em 2012

Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients

Por Jansen, Anne M. L., Geilenkirchen, Marije A., van Wezel, Tom, Jagmohan-Changur, Shantie C., Ruano, Dina, van der Klift, Heleen M., van den Akker, Brendy E. W. M., Laros, Jeroen F. J., van Galen, Michiel, Wagner, Anja, Letteboer, Tom G. W., Gómez-García, Encarna B., Tops, Carli M. J., Vasen, Hans F., Devilee, Peter, Hes, Frederik J., Morreau, Hans, Wijnen, Juul T.
Publicado no PLoS One (2016)