Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants

Por Houlleberghs, Hellen, Dekker, Marleen, Lantermans, Hildo, Kleinendorst, Roos, Dubbink, Hendrikus Jan, Hofstra, Robert M. W., Verhoef, Senno, te Riele, Hein
Publicado no Proc Natl Acad Sci U S A (2016)

C. elegans Model Identifies Genetic Modifiers of α-Synuclein Inclusion Formation During Aging

Por van Ham, Tjakko J., Thijssen, Karen L., Breitling, Rainer, Hofstra, Robert M. W., Plasterk, Ronald H. A., Nollen, Ellen A. A.
Publicado em 2008

Tumor Characteristics as an Analytic Tool for Classifying Genetic Variants of Uncertain Clinical Significance

Por Hofstra, Robert M.W., Spurdle, Amanda B., Eccles, Diana, Foulkes, William D., de Wind, Niels, Hoogerbrugge, Nicoline, Hogervorst, Frans B.L.
Publicado em 2008

Mutations in SCG10 Are Not Involved in Hirschsprung Disease

Por Alves, Maria M. M., Osinga, Jan, Verheij, Joke B. G. M., Metzger, Marco, Eggen, Bart J. L., Hofstra, Robert M. W.
Publicado em 2010

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)

Por Griseri, Paola, Vos, Yvonne, Giorda, Roberto, Gimelli, Stefania, Beri, Silvana, Santamaria, Giuseppe, Mognato, Guendalina, Hofstra, Robert M W, Gimelli, Giorgio, Ceccherini, Isabella
Publicado em 2009

A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus

Por Bolk, Stacey, Pelet, Anna, Hofstra, Robert M. W., Angrist, Misha, Salomon, Remi, Croaker, David, Buys, Charles H. C. M., Lyonnet, Stanislas, Chakravarti, Aravinda
Publicado em 2000

Sorafenib functions to potently suppress RET tyrosine kinase activity by direct enzymatic inhibition and promoting RET lysosomal degradation independent of proteasomal targeting.

Por Plaza-Menacho, Iván, Mologni, Luca, Sala, Elisa, Gambacorti-Passerini, Carlo, Magee, Anthony I., Links, Thera P., Hofstra, Robert M. W., Barford, David, Isacke, Clare M.
Publicado em 2009

Locus-Specific Databases (LSDBs) and Recommendations to Strengthen Their Contribution to the Classification of Variants in Cancer Susceptibility Genes

Por Greenblatt, Marc S., Brody, Lawrence C., Foulkes, William D., Genuardi, Maurizio, Hofstra, Robert M.W., Olivier, Magali, Plon, Sharon E., Sijmons, Rolf H., Sinilnikova, Olga, Spurdle, Amanda B.
Publicado em 2008

Focal Adhesion Kinase (FAK) Binds RET Kinase via Its FERM Domain, Priming a Direct and Reciprocal RET-FAK Transactivation Mechanism

Por Plaza-Menacho, Iván, Morandi, Andrea, Mologni, Luca, Boender, Piet, Gambacorti-Passerini, Carlo, Magee, Anthony I., Hofstra, Robert M. W., Knowles, Phillip, McDonald, Neil Q., Isacke, Clare M.
Publicado em 2011

CLMP Is Essential for Intestinal Development, but Does Not Play a Key Role in Cellular Processes Involved in Intestinal Epithelial Development

Por van der Werf, Christine S., Hsiao, Nai-Hua, Conroy, Siobhan, Paredes, Joana, Ribeiro, Ana S., Sribudiani, Yunia, Seruca, Raquel, Hofstra, Robert M. W., Westers, Helga, van IJzendoorn, Sven C. D.
Publicado em 2013

Screening for germline DND1 mutations in testicular cancer patients

Por Sijmons, Rolf H., Vos, Yvonne J., Herkert, Johanna C., Bos, Krista K., Holzik, Martijn F. Lutke, Hoekstra-Weebers, Josette E. H. M., Hofstra, Robert M. W., Hoekstra, Harald J.
Publicado em 2010

Association of Hereditary Nonpolyposis Colorectal Cancer–Related Tumors Displaying Low Microsatellite Instability with MSH6 Germline Mutations

Por Wu, Ying, Berends, Maran J. W., Mensink, Rob G. J., Kempinga, Claudia, Sijmons, Rolf H., van der Zee, Ate G. J., Hollema, Harry, Kleibeuker, Jan H., Buys, Charles H. C. M., Hofstra, Robert M. W.
Publicado em 1999

Identifying Candidate Hirschsprung Disease–Associated RET Variants

Por Burzynski, Grzegorz M., Nolte, Ilja M., Bronda, Agnes, Bos, Krista K., Osinga, Jan, Plaza Menacho, Ivan, Twigt, Bas, Maas, Saskia, Brooks, Alice S., Verheij, Joke B. G. M., Buys, Charles H. C. M., Hofstra, Robert M. W.
Publicado em 2005

Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease

Por Jannot, Anne-Sophie, Pelet, Anna, Henrion-Caude, Alexandra, Chaoui, Asma, Masse-Morel, Marine, Arnold, Stacey, Sanlaville, Damien, Ceccherini, Isabella, Borrego, Salud, Hofstra, Robert M. W., Munnich, Arnold, Bondurand, Nadège, Chakravarti, Aravinda, Clerget-Darpoux, Françoise, Amiel, Jeanne, Lyonnet, Stanislas
Publicado em 2013

Survival-Related Profile, Pathways, and Transcription Factors in Ovarian Cancer

Por Crijns, Anne P. G, Fehrmann, Rudolf S. N, de Jong, Steven, Gerbens, Frans, Meersma, Gert Jan, Klip, Harry G, Hollema, Harry, Hofstra, Robert M. W, te Meerman, Gerard J., de Vries, Elisabeth G. E, van der Zee, Ate G. J
Publicado em 2009

Evidence Based Selection of Housekeeping Genes

Por de Jonge, Hendrik J. M., Fehrmann, Rudolf S. N., de Bont, Eveline S. J. M., Hofstra, Robert M. W., Gerbens, Frans, Kamps, Willem A., de Vries, Elisabeth G. E., van der Zee, Ate G. J., te Meerman, Gerard J., ter Elst, Arja
Publicado em 2007

Common arterial trunk and ventricular non-compaction in Lrp2 knockout mice indicate a crucial role of LRP2 in cardiac development

Por Baardman, Maria E., Zwier, Mathijs V., Wisse, Lambertus J., Gittenberger-de Groot, Adriana C., Kerstjens-Frederikse, Wilhelmina S., Hofstra, Robert M. W., Jurdzinski, Angelika, Hierck, Beerend P., Jongbloed, Monique R. M., Berger, Rolf M. F., Plösch, Torsten, DeRuiter, Marco C.
Publicado no Dis Model Mech (2016)

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease

Por Jannot, Anne-Sophie, Amiel, Jeanne, Pelet, Anna, Lantieri, Francesca, Fernandez, Raquel M, Verheij, Joke B G M, Garcia-Barcelo, Merce, Arnold, Stacey, Ceccherini, Isabella, Borrego, Salud, Hofstra, Robert M W, Tam, Paul K H, Munnich, Arnold, Chakravarti, Aravinda, Clerget-Darpoux, Françoise, Lyonnet, Stanislas
Publicado em 2012

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

Por Kerstjens-Frederikse, Wilhelmina S, Bongers, Ernie M H F, Roofthooft, Marcus T R, Leter, Edward M, Douwes, J Menno, Van Dijk, Arie, Vonk-Noordegraaf, Anton, Dijk-Bos, Krista K, Hoefsloot, Lies H, Hoendermis, Elke S, Gille, Johan J P, Sikkema-Raddatz, Birgit, Hofstra, Robert M W, Berger, Rolf M F
Publicado em 2013

Molecular and Clinical Characteristics of MSH6 Variants: An Analysis of 25 Index Carriers of a Germline Variant

Por Berends, Maran J. W., Wu, Ying, Sijmons, Rolf H., Mensink, Rob G. J., van der Sluis, Tineke, Hordijk-Hos, Jannet M., de Vries, Elisabeth G. E., Hollema, Harry, Karrenbeld, Arend, Buys, Charles H. C. M., van der Zee, Ate G. J., Hofstra, Robert M. W., Kleibeuker, Jan H.
Publicado em 2002