Ion Channel Genes in Painful Neuropathies

por Ślęczkowska, Milena, Misra, Kaalindi, Santoro, Silvia, Gerrits, Monique M., Hoeijmakers, Janneke G. J.
Publicado 2023

Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study

por Hermans, Mieke CE, Faber, Catharina G, Bekkers, Sebastiaan CAM, de Die-Smulders, Christine EM, Gerrits, Monique M, Merkies, Ingemar SJ, Snoep, Gabriel, Pinto, Yigal M, Schalla, Simon
Publicado 2012

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy

por de Greef, Bianca T. A., Hoeijmakers, Janneke G. J., Wolters, Emma E., Smeets, Hubertus J. M., van den Wijngaard, Arthur, Merkies, Ingemar S. J., Faber, Catharina G., Gerrits, Monique M.
Publicado 2016

Hydropathicity-based prediction of pain-causing NaV1.7 variants

por Xenakis, Makros N., Kapetis, Dimos, Yang, Yang, Gerrits, Monique M., Heijman, Jordi, Waxman, Stephen G., Lauria, Giuseppe, Faber, Catharina G., Westra, Ronald L., Lindsey, Patrick J., Smeets, Hubert J.
Publicado 2021

Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of Na(V)1.7

por Estacion, Mark, Han, Chongyang, Choi, Jin-Sung, Hoeijmakers, Janneke GJ, Lauria, Giuseppe, Drenth, Joost PH, Gerrits, Monique M, Dib-Hajj, Sulayman D, Faber, Catharina G, Merkies, Ingemar SJ, Waxman, Stephen G
Publicado 2011

A gain-of-function sodium channel β2-subunit mutation in painful diabetic neuropathy

por Alsaloum, Matthew, Estacion, Mark, Almomani, Rowida, Gerrits, Monique M, Bönhof, Gidon J, Ziegler, Dan, Malik, Rayaz, Ferdousi, Maryam, Lauria, Giuseppe, Merkies, Ingemar SJ, Faber, Catharina G, Dib-Hajj, Sulayman, Waxman, Stephen G
Publicado 2019

Biomarker-based prediction of inflammatory bowel disease-related colorectal cancer: a case–control study

por Gerrits, Monique M., Chen, Min, Theeuwes, Myrte, van Dekken, Herman, Sikkema, Marjolein, Steyerberg, Ewout W., Lingsma, Hester F., Siersema, Peter D., Xia, Bing, Kusters, Johannes G., van der Woude, C. Janneke, Kuipers, Ernst J.
Publicado 2011

Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy

por Ślęczkowska, Milena, Almomani, Rowida, Marchi, Margherita, Salvi, Erika, de Greef, Bianca T A, Sopacua, Maurice, Hoeijmakers, Janneke G J, Lindsey, Patrick, Waxman, Stephen G, Lauria, Giuseppe, Faber, Catharina G, Smeets, Hubert J M, Gerrits, Monique M
Publicado 2022

Differential effect of lacosamide on Na(v)1.7 variants from responsive and non-responsive patients with small fibre neuropathy

por Labau, Julie I R, Estacion, Mark, Tanaka, Brian S, de Greef, Bianca T A, Hoeijmakers, Janneke G J, Geerts, Margot, Gerrits, Monique M, Smeets, Hubert J M, Faber, Catharina G, Merkies, Ingemar S J, Lauria, Giuseppe, Dib-Hajj, Sulayman D, Waxman, Stephen G
Publicado 2020

Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy

por Ślęczkowska, Milena, Almomani, Rowida, Marchi, Margherita, de Greef, Bianca T. A., Sopacua, Maurice, Hoeijmakers, Janneke G. J., Lindsey, Patrick, Salvi, Erika, Bönhof, Gidon J., Ziegler, Dan, Malik, Rayaz A., Waxman, Stephen G., Lauria, Giuseppe, Faber, Catharina G., Smeets, Hubert J. M., Gerrits, Monique M.
Publicado 2022

Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing

por Almomani, Rowida, Marchi, Margherita, Sopacua, Maurice, Lindsey, Patrick, Salvi, Erika, de Koning, Bart, Santoro, Silvia, Magri, Stefania, Smeets, Hubert J. M., Martinelli Boneschi, Filippo, Malik, Rayaz R., Ziegler, Dan, Hoeijmakers, Janneke G. J., Bönhof, Gidon, Dib-Hajj, Sulayman, Waxman, Stephen G., Merkies, Ingemar S. J., Lauria, Giuseppe, Faber, Catharina G., Gerrits, Monique M.
Publicado 2020

Correction: Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing

por Almomani, Rowida, Marchi, Margherita, Sopacua, Maurice, Lindsey, Patrick, Salvi, Erika, de Koning, Bart, Santoro, Silvia, Magri, Stefania, Smeets, Hubert J. M., Boneschi, Filippo Martinelli, Malik, Rayaz A., Ziegler, Dan, Hoeijmakers, Janneke G. J., Bönhof, Gidon, Dib-Hajj, Sulayman, Waxman, Stephen G., Merkies, Ingemar S. J., Lauria, Giuseppe, Faber, Catharina G., Gerrits, Monique M.
Publicado 2021

Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies

por Almomani, Rowida, Sopacua, Maurice, Marchi, Margherita, Ślęczkowska, Milena, Lindsey, Patrick, de Greef, Bianca T. A., Hoeijmakers, Janneke G. J., Salvi, Erika, Merkies, Ingemar S. J., Ferdousi, Maryam, Malik, Rayaz A., Ziegler, Dan, Derks, Kasper W. J., Boenhof, Gidon, Martinelli-Boneschi, Filippo, Cazzato, Daniele, Lombardi, Raffaella, Dib-Hajj, Sulayman, Waxman, Stephen G., Smeets, Hubert J. M., Gerrits, Monique M., Faber, Catharina G., Lauria, Giuseppe
Publicado 2023

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

por Walker, Logan C, Fredericksen, Zachary S, Wang, Xianshu, Tarrell, Robert, Pankratz, Vernon S, Lindor, Noralane M, Beesley, Jonathan, Healey, Sue, Chen, Xiaoqing, Stoppa-Lyonnet, Dominique, Tirapo, Carole, Giraud, Sophie, Mazoyer, Sylvie, Muller, Danièle, Fricker, Jean-Pierre, Delnatte, Capucine, Schmutzler, Rita K, Wappenschmidt, Barbara, Engel, Christoph, Schönbuchner, Ines, Deissler, Helmut, Meindl, Alfons, Hogervorst, Frans B, Verheus, Martijn, Hooning, Maartje J, van den Ouweland, Ans MW, Nelen, Marcel R, Ausems, Margreet GEM, Aalfs, Cora M, van Asperen, Christi J, Devilee, Peter, Gerrits, Monique M, Waisfisz, Quinten, Szabo, Csilla I, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Harrington, Patricia, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Rebbeck, Tim, Nathanson, Katherine L, Domchek, Susan M, Singer, Christian F, Gschwantler-Kaulich, Daphne, Dressler, Anne-Catharina, Pfeiler, Georg, Godwin, Andrew K, Heikkinen, Tuomas, Nevanlinna, Heli, Agnarsson, Bjarni A, Caligo, Maria Adelaide, Olsson, Håkan, Kristoffersson, Ulf, Liljegren, Annelie, Arver, Brita, Karlsson, Per, Melin, Beatrice, Sinilnikova, Olga M, McGuffog, Lesley, Antoniou, Antonis C, Chenevix-Trench, Georgia, Spurdle, Amanda B, Couch, Fergus J
Publicado 2010