Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas

von Weterman, Marian A. J., Wilbrink, Monique, van Kessel, Ad Geurts
Veröffentlicht 1996

Impairment of MAD2B–PRCC interaction in mitotic checkpoint defective t(X;1)-positive renal cell carcinomas

von Weterman, Marian A. J., van Groningen, Jan J. M., Tertoolen, Leon, van Kessel, Ad Geurts
Veröffentlicht 2001

Different Pattern of Allelic Loss in Epstein-Barr Virus-Positive Gastric Cancer with Emphasis on the p53 Tumor Suppressor Pathway

von van Rees, Bastiaan P., Caspers, Eric, zur Hausen, Axel, van den Brule, Adriaan, Drillenburg, Paul, Weterman, Marian A. J., Offerhaus, G. Johan A.
Veröffentlicht 2002

A LRSAM1 mutation links Charcot–Marie–Tooth type 2 to Parkinson's disease

von Aerts, Marjolein B., Weterman, Marian A. J., Quadri, Marialuisa, Schelhaas, H. Jurgen, Bloem, Bastiaan R., Esselink, Rianne A., Baas, Frank, Bonifati, Vincenzo, van de Warrenburg, Bart P.
Veröffentlicht in Ann Clin Transl Neurol (2015)

Nasal polyposis in Peutz–Jeghers syndrome: a distinct histopathological and molecular genetic entity

von de Leng, Wendy W J, Westerman, Anne Marie, Weterman, Marian A J, Jansen, Marnix, van Dekken, Herman, Giardiello, Francis M, de Rooij, Felix W M, Wilson, J H Paul, Offerhaus, G Johan A, Keller, Josbert J
Veröffentlicht 2007

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

von Weterman, Marian A.J., Sorrentino, Vincenzo, Kasher, Paul R., Jakobs, Marja E., van Engelen, Baziel G.M., Fluiter, Kees, de Wissel, Marit B., Sizarov, Aleksander, Nürnberg, Gudrun, Nürnberg, Peter, Zelcer, Noam, Schelhaas, H. Jurgen, Baas, Frank
Veröffentlicht 2012

Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities

von Weterman, Marian A J, Kuo, Molly, Kenter, Susan B, Gordillo, Sara, Karjosukarso, Dyah W, Takase, Ryuichi, Bronk, Marieke, Oprescu, Stephanie, van Ruissen, Fred, Witteveen, Ron J W, Bienfait, Henriette M E, Breuning, Martijn, Verhamme, Camiel, Hou, Ya-Ming, de Visser, Marianne, Antonellis, Anthony, Baas, Frank
Veröffentlicht in Hum Mol Genet (2018)

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

von Zhang, Feng, Seeman, Pavel, Liu, Pengfei, Weterman, Marian A.J., Gonzaga-Jauregui, Claudia, Towne, Charles F., Batish, Sat Dev, De Vriendt, Els, De Jonghe, Peter, Rautenstrauss, Bernd, Krause, Klaus-Henning, Khajavi, Mehrdad, Posadka, Jan, Vandenberghe, Antoon, Palau, Francesc, Van Maldergem, Lionel, Baas, Frank, Timmerman, Vincent, Lupski, James R.
Veröffentlicht 2010