Search Results - "Weterman, M A"

Charcot-marie-tooth disease due to a de novo mutation of the RAB7 gene by MEGGOUH, F, BIENFAIT, H. M. E, WETERMAN, M. A. J, DE VISSER, M, BAAS, F

“…We report a 32-year-old patient with Charcot-Marie-Tooth (CMT2B) including foot ulcerations. Genetic analysis identified a de novo mutation in the small…”
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Deregulated expression of EZH2 in congenital brainstem disconnection by Barth, P. G., Aronica, E., Fox, S., Fluiter, K., Weterman, M. A. J., Poretti, A., Miller, D. C., Boltshauser, E., Harding, B., Santi, M., Baas, F.

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Phenotype of Charcot-Marie-Tooth disease Type 2 by BIENFAIT, H. M. E, BAAS, F, TIMMERMAN, V, DE VISSER, M, KOELMAN, J. H. T. M, DE HAAN, R. J, VAN ENGELEN, B. G. M, GABREËLS-FESTEN, A. A. W. M, ONGERBOER DE VISSER, B. W, MEGGOUH, F, WETERMAN, M. A. J, DE JONGHE, P

“…To investigate the clinical and electrophysiologic phenotype of Charcot-Marie-Tooth disease (CMT) Type 2 in a large number of affected families. We excluded…”
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Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates by de Leng, WWJ, Jansen, M, Carvalho, R, Polak, M, Musler, AR, Milne, ANA, Keller, JJ, Menko, FH, de Rooij, FWM, Iacobuzio-Donahue, CA, Giardiello, FM, Weterman, MAJ, Offerhaus, GJA

“…LKB1/STK11 germline inactivations are identified in the majority (66–94%) of Peutz–Jeghers syndrome (PJS) patients. Therefore, defects in other genes or so far…”
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Cyclin E low molecular weight isoforms occur commonly in early-onset gastric cancer and independently predict survival by Milne, A N A, Carvalho, R, Jansen, M, Kranenbarg, E K, van de Velde, C J H, Morsink, F M, Musler, A R, Weterman, M A J, Offerhaus, G J A

“…Post-translational cleavage of full-length cyclin E from the N-terminus can produce low molecular weight (LMW) isoforms of cyclin E containing the C-terminus…”
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Peutz–Jeghers syndrome polyps are polyclonal with expanded progenitor cell compartment by de Leng, W W J, Jansen, M, Keller, J J, de Gijsel, M, Milne, A N A, Morsink, F H M, Weterman, M A J, Iacobuzio-Donahue, C A, Clevers, H C, Giardiello, F M, Offerhaus, G J A

“…Peutz-Jeghers syndrome (PJS) is an autosomal dominant cancer susceptibility syndrome characterised by mucocutaneous melanin pigmentation, hamartomatous polyps,…”
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Fine mapping of the 1q21 breakpoint of the papillary renal cell carcinoma-associated (X;1) translocation by Weterman, M A, Wilbrink, M, Dijkhuizen, T, van den Berg, E, Geurts van Kessel, A

“…A combination of Southern blot analysis on a panel of tumor-derived somatic cell hybrids and fluorescence in situ hybridization (FISH) techniques was used to…”
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nmb, a novel gene, is expressed in low-metastatic human melanoma cell lines and xenografts by Weterman, M A, Ajubi, N, van Dinter, I M, Degen, W G, van Muijen, G N, Ruitter, D J, Bloemers, H P

“…From a subtractive cDNA library, we isolated several cDNA clones which showed differential expression between highly and lowly metastatic human melanoma cell…”
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STRAD in Peutz-Jeghers syndrome and sporadic cancers by de Leng, W W J, Keller, J J, Luiten, S, Musler, A R, Jansen, M, Baas, A F, de Rooij, F W M, Gille, J J P, Menko, F H, Offerhaus, G J A, Weterman, M A J

“…Background/Aims:LKB1 is a tumour suppressor gene that is associated with Peutz-Jeghers syndrome (PJS), a rare autosomal dominant cancer predisposition…”
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An Alternative Route for Multistep Tumorigenesis in a Novel Case of Hereditary Renal Cell Cancer and a t(2;3)(q35;q21) Chromosome Translocation by Bodmer, Daniëlle, Eleveld, Marc J., Ligtenberg, Marjolijn J.L., Weterman, Marian A.J., Janssen, Bert A.P., Smeets, Dominique F.C.M., de Wit, Peter E.J., van den Berg, Anke, van den Berg, Eva, Koolen, Marianne I., Geurts van Kessel, Ad

“…Through allele-segregation and loss-of-heterozygosity analyses, we demonstrated loss of the translocation-derivative chromosome 3 in five independent renal…”
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Expression of calcyclin in human melanoma cell lines correlates with metastatic behavior in nude mice by WETERMAN, M. A. J, STOOPEN, G. M, VAN MUIJEN, G. N. P, KUZNICKI, J, RUITER, D. J, BLOEMERS, H. P. J

“…Since our aim was to isolate and identify new progression markers of human cutaneous melanoma, we applied the differential hybridization technique, in which we…”
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Expression of nma, a novel gene, inversely correlates with the metastatic potential of human melanoma cell lines and xenografts by Degen, Winfried G. J., Weterman, Marian A. J., van Groningen, Jan J. M., Cornelissen, Ine M. A. H., Lemmers, Jolanda P. W. M., Agterbos, Marloes A., van Kessel, Ad Geurts, Swart, Guido W. M., Bloemers, Henri P. J.

“…nma, a novel gene, was isolated by using a subtractive hybridization technique in which the gene expression was compared in a panel of human melanoma cell…”
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Increasing Epidermal Growth Factor Receptor Expression in Human Melanocytic Tumor Progression by De Wit, Peter E.J., Moretti, Silvia, Koenders, Paul G., Weterman, Marian A.J., van Muijen, Goos N.P., Gianotti, Benvenuto, Ruiter, Dirk J.

“…Different results have been reported on the expression of epidermal growth factor receptor (EGFR) in human melanocytic lesions, which may be due to different…”
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Expression of calcyclin in human melanocytic lesions by WETERMAN, M. A. J, VAN MUIJEN, G. N. P, BLOEMERS, H. P. J, RUITER, D. J

“…When comparing two subsequent stages of melanocytic tumor progression we identified calcyclin as a new potential progression marker, the expression of which…”
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Molecular markers of melanocytic tumor progression by Weterman, M A, van Muijen, G N, Bloemers, H P, Ruiter, D J

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Genomic structure, chromosomal localization, and embryonic expression of the mouse homolog of PRCC, a gene associated with papillary renal cell carcinoma by Weterman, M A, Wilbrink, M, Eleveld, M, Merkx, G, van Groningen, J J, van Rooijen, M, Geurts van Kessel, A

“…In a subset of papillary renal cell carcinomas a t(X;1)(p11;q21) chromosome translocation has repeatedly been reported. Positional cloning has demonstrated…”
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Molecular cloning of the papillary renal cell carcinoma-associated translocation (X;1)(p11;q21) breakpoint by Weterman, M A, Wilbrink, M, Janssen, I, Janssen, H A, van den Berg, E, Fisher, S E, Craig, I, Geurts van Kessel, A

“…A combination of Southern blot analysis on a panel of tumor-derived somatic cell hybrids and fluorescence in situ hybridization techniques was used to map…”
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Fusion of the Transcription Factor TFE3 Gene to a Novel Gene, PRCC, in t(X;1) (p11;q21)-Positive Papillary Renal Cell Carcinomas by Marian A. J. Weterman, Wilbrink, Monique, Van Kessel, Ad Geurts

“…The (X;1) (p11;q21) translocation is a recurrent chromosomal abnormality in a subset of human papillary renal cell carcinomas, and is sometimes the sole…”
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Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas by HEIMANN, Pierre, EL HOUSNI, Hakim, OGUR, Gönül, WETERMAN, Marian A. J, PETTY, Elizabeth M, VASSART, Gilbert

“…A subset of childhood and young adult renal cell carcinomas displays a recurrent translocation t(X;17)(p11;q25) as the sole cytogenetic abnormality. In two…”
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Impairment of MAD2B-PRCC Interaction in Mitotic Checkpoint Defective t(X;1)-Positive Renal Cell Carcinomas by Marian A. J. Weterman, Jan J. M. van Groningen, Tertoolen, Leon, van Kessel, Ad Geurts

“…The papillary renal cell carcinoma (RCC)-associated (X;1)(p11;q21) translocation fuses the genes PRCC and TFE3 and leads to cancer by an unknown molecular…”
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