Search Results - "Wikman, Friedrik P."

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment by Nyegaard, Mette, Rendtorff, Nanna D, Nielsen, Morten S, Corydon, Thomas J, Demontis, Ditte, Starnawska, Anna, Hedemand, Anne, Buniello, Annalisa, Niola, Francesco, Overgaard, Michael T, Leal, Suzanne M, Ahmad, Wasim, Wikman, Friedrik P, Petersen, Kirsten B, Crüger, Dorthe G, Oostrik, Jaap, Kremer, Hannie, Tommerup, Niels, Frödin, Morten, Steel, Karen P, Tranebjærg, Lisbeth, Børglum, Anders D

“…Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a…”
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High-density single nucleotide polymorphism array defines novel stage and location-dependent allelic imbalances in human bladder tumors by KOED, Karen, WIUF, Carsten, CHRISTENSEN, Lise-Lotte, WIKMAN, Friedrik P, ZIEGER, Karsten, MØLLER, Klaus, VON DER MAASE, Hans, ØRNTOFT, Torben F

“…Bladder cancer is a common disease characterized by multiple recurrences and an invasive disease course in more than 10% of patients. It is of monoclonal or…”
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The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population by Christensen, Lise Lotte, Madsen, Bo E, Wikman, Friedrik P, Wiuf, Carsten, Koed, Karen, Tjønneland, Anne, Olsen, Anja, Syvänen, Ann-Christine, Andersen, Claus L, Orntoft, Torben F

“…Mutations in the mismatch repair genes hMLH1 and hMSH2 predispose to hereditary non-polyposis colorectal cancer (HNPCC). Genetic screening of more than 350…”
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Detection of PMS2 Mutations by Screening Hereditary Nonpolyposis Colon Cancer Families from Denmark and Sweden by Okkels, Henrik, Lagerstedt-Robinsson, Kristina, Wikman, Friedrik P, Hansen, Thomas V O, Lolas, Ihab, Lindberg, Lars Joachim, Krarup, Henrik B

“…Hereditary nonpolyposis colon cancer (HNPCC) and Lynch syndrome (LS) are characterized by defects in the mismatch repair (MMR) system, which protects the…”
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Genotyping and annotation of Affymetrix SNP arrays by Lamy, Philippe, Andersen, Claus L, Wikman, Friedrik P, Wiuf, Carsten

“…In this paper we develop a new method for genotyping Affymetrix single nucleotide polymorphism (SNP) array. The method is based on (i) using multiple arrays at…”
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Allelic Imbalances in Human Bladder Cancer: Genome-Wide Detection With High-Density Single-Nucleotide Polymorphism Arrays by Primdahl, Hanne, Wikman, Friedrik P., von der Maase, Hans, Zhou, Xiao-ge, Wolf, Hans, Ørntoft, Torben F.

“…Background: Bladder cancer is characterized by genomic instability. In this study, we investigated whether genome-wide screening using single-nucleotide…”
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Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population by Nilbert, Mef, Wikman, Friedrik P., Hansen, Thomas V. O., Krarup, Henrik B., Örntoft, Torben F., Nielsen, Finn C., Sunde, Lone, Gerdes, Anne-Marie, Cruger, Dorthe, Timshel, Susanne, Bisgaard, Marie-Louise, Bernstein, Inge, Okkels, Henrik

“…An increasing number of mismatch-repair (MMR) gene mutations have been identified in hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome. This…”
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Evaluation of the Performance of a p53 Sequencing Microarray Chip Using 140 Previously Sequenced Bladder Tumor Samples by Wikman, Friedrik P, Lu, Ming-Lan, Thykjaer, Thomas, Olesen, Sanne H, Andersen, Lars D, Cordon-Cardo, Carlos, Orntoft, Torben F

“…Testing for mutations of the TP53 gene in tumors is a valuable predictor for disease outcome in certain cancers, but the time and cost of conventional…”
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Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients by Christensen, Lise Lotte, Kariola, Reetta, Korhonen, Mari K., Wikman, Friedrik P., Sunde, Lone, Gerdes, Anne-Marie, Okkels, Henrik, Brandt, Carsten A., Bernstein, Inge, Hansen, Thomas V. O., Hagemann-Madsen, Rikke, Andersen, Claus L., Nyström, Minna, Ørntoft, Torben F.

“…Recently, we have performed a population based study to analyse the frequency of colorectal cancer related MLH1 and MSH2 missense mutations in the Danish…”
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A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment: e1005386 by Nyegaard, Mette, Rendtorff, Nanna D, Nielsen, Morten S, Corydon, Thomas J, Demontis, Ditte, Starnawska, Anna, Hedemand, Anne, Buniello, Annalisa, Niola, Francesco, Overgaard, Michael T, Leal, Suzanne M, Ahmad, Wasim, Wikman, Friedrik P, Petersen, Kirsten B, Crüger, Dorthe G, Oostrik, Jaap, Kremer, Hannie, Tommerup, Niels, Frödin, Morten, Steel, Karen P, Tranebjærg, Lisbeth, Børglum, Anders D

“…Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a…”
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Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer by Ripa, Rasmus S, Katballe, Niels, Wikman, Friedrik P, Jäger, Anne Charlotte, Bernstein, Inge, Orntoft, Torben, Schwartz, Marianne, Nielsen, Finn Cilius, Bisgaard, Marie Luise

“…The diagnosis of hereditary non-polyposis colorectal cancer (HNPCC) is often confirmed by a mutation in one of several mismatch-repair genes, in particular…”
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Crosslinking of tRNA containing a long extra arm to elongation factor tu by trans-diamminedichloroplatinum(II) by RASMUSSEN, N.-J, WILMAN, F. P, CLARK, B. F. C

“…A tRNA containing a long extra arm, namely E. coli tRNA(Leu1) has been crosslinked to elongation factor Tu, with the crosslinking reagent…”
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Efficient mutation detection in mismatch repair genes using a combination of single-strand conformational polymorphism and heteroduplex analysis at a controlled temperature by Wikman, F P, Katballe, N, Christensen, M, Laurberg, S, Orntoft, T F

“…Single-strand conformational polymorphism analysis (SSCP) and heteroduplex analysis (HD) were tested as methods for mutation screening with respect to…”
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Different conformations of tRNA in the ribosomal P‐site and A‐site by JØRGENSEN, Tony, SIBOSKA, Gunhild E., WIKMAN, Friedrik P., CLARK, Brian F. C.

“…Footprinting studies involving radioactively end‐labelled tRNA species bound at either the ribosomal P‐or A‐site have yielded information that the tRNA's…”
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