Search Results - "Carl, E G"

Feasibility, pitfalls and results of a structured concept-development phase for a randomized controlled phase III trial on radiotherapy in primary prostate cancer patients by Spohn, S K B, Adebahr, S, Huber, M, Jenkner, C, Wiehle, R, Nagavci, B, Schmucker, C, Carl, E G, Chen, R C, Weber, W A, Mix, M, Rühle, A, Sprave, T, Nicolay, N H, Gratzke, C, Benndorf, M, Wiegel, T, Weis, J, Baltas, D, Grosu, A L, Zamboglou, C

“…Failure rate in randomized controlled trials (RCTs) is > 50%, includes safety-problems, underpowered statistics, lack of efficacy, lack of funding or…”
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A segmental maximum a posteriori approach to genome-wide copy number profiling by Andersson, Robin, Bruder, Carl E. G., Piotrowski, Arkadiusz, Menzel, Uwe, Nord, Helena, Sandgren, Johanna, Hvidsten, Torgeir R., Diaz de Ståhl, Teresita, Dumanski, Jan P., Komorowski, Jan

“…Motivation: Copy number profiling methods aim at assigning DNA copy numbers to chromosomal regions using measurements from microarray-based comparative genomic…”
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Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles by Bruder, Carl E.G., Piotrowski, Arkadiusz, Gijsbers, Antoinet A.C.J., Andersson, Robin, Erickson, Stephen, Diaz de Ståhl, Teresita, Menzel, Uwe, Sandgren, Johanna, von Tell, Desiree, Poplawski, Andrzej, Crowley, Michael, Crasto, Chiquito, Partridge, E. Christopher, Tiwari, Hemant, Allison, David B., Komorowski, Jan, van Ommen, Gert-Jan B., Boomsma, Dorret I., Pedersen, Nancy L., den Dunnen, Johan T., Wirdefeldt, Karin, Dumanski, Jan P.

“…The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup…”
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Autoantibodies to glutathione S-transferase theta 1 in patients with primary sclerosing cholangitis and other autoimmune diseases by Ardesjö, Brita, Hansson, Caisa M, Bruder, Carl E.G, Rorsman, Fredrik, Betterle, Corrado, Dumanski, Jan P, Kämpe, Olle, Ekwall, Olov

“…Abstract Primary sclerosing cholangitis (PSC) is an enigmatic disorder with a suggested autoimmune basis. A variety of autoantigens have been suggested but no…”
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Growth Hormone Overexpression in the Central Nervous System Results in Hyperphagia-Induced Obesity Associated With Insulin Resistance and Dyslipidemia by BOLDOOLY, Mohammad, OLSSON, Bob, ISAKSSON, Olle G. P, SUNDLER, Frank, AHREN, Bo, OHLSSON, Claes, OSCARSSON, Jan, TÖRNELL, Jan, BRUDER, Carl E. G, LINDEN, Daniel, SJÖGREN, Klara, BJURSELL, Mikael, EGECIOGLU, Emit, SVENSSON, Lennart, BRODIN, Peter, WATERTON, John C

“…Growth Hormone Overexpression in the Central Nervous System Results in Hyperphagia-Induced Obesity Associated With Insulin Resistance and Dyslipidemia Mohammad…”
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Somatic mosaicism for copy number variation in differentiated human tissues by Piotrowski, Arkadiusz, Bruder, Carl E.G, Andersson, Robin, de Ståhl, Teresita Diaz, Menzel, Uwe, Sandgren, Johanna, Poplawski, Andrzej, von Tell, Desiree, Crasto, Chiquito, Bogdan, Adam, Bartoszewski, Rafal, Bebok, Zsuzsa, Krzyzanowski, Maciej, Jankowski, Zbigniew, Partridge, E. Christopher, Komorowski, Jan, Dumanski, Jan P

“…Two major types of genetic variation are known: single nucleotide polymorphisms (SNPs), and a more recently discovered structural variation, involving changes…”
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Overlapping phenotype of Wolf–Hirschhorn and Beckwith–Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter) by Mikhail, Fady M., Sathienkijkanchai, Achara, Robin, Nathaniel H., Prucka, Sandra, Biggerstaff, Julie Sanford, Komorowski, Jan, Andersson, Robin, Bruder, Carl E.G., Piotrowski, Arkadiusz, de Ståhl, Teresita Diaz, Dumanski, Jan P., Carroll, Andrew J.

“…We report on an 8‐month‐old girl with a novel unbalanced chromosomal rearrangement, consisting of a terminal deletion of 4p and a paternal duplication of…”
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Sexual function of men undergoing single prostate cancer treatment – results of the EUPROMS study by Venderbos, L.D.F., Deschamps, A., Carl, E-G., Dowling, J., Remmers, S., Roobol, M.J.

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Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus by VON TELL, Désirée, BRUDER, Carl E. G, ANDERSON, Louise V. B, ANVRET, Maria, AHLBERG, Gabrielle

“…Welander distal myopathy (WDM) is a late adult-onset autosomal dominant disorder, characterized by a slow progression and distal limb weakness of the extremity…”
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Characterization of novel and complex genomic aberrations in glioblastoma using a 32K BAC array by Nord, Helena, Hartmann, Christian, Andersson, Robin, Menzel, Uwe, Pfeifer, Susan, Piotrowski, Arkadiusz, Bogdan, Adam, Kloc, Wojciech, Sandgren, Johanna, Olofsson, Tommie, Hesselager, Göran, Blomquist, Erik, Komorowski, Jan, von Deimling, Andreas, Bruder, Carl E G, Dumanski, Jan P, Díaz de Ståhl, Teresita

“…Glioblastomas (GBs) are malignant CNS tumors often associated with devastating symptoms. Patients with GB have a very poor prognosis, and despite treatment,…”
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Distal 22q11.2 microduplication encompassing the BCR gene by Descartes, Maria, Franklin, Judy, de Ståhl, Teresita Diaz, Piotrowski, Arkadiusz, Bruder, Carl E.G., Dumanski, Jan P., Carroll, Andrew J., Mikhail, Fady M.

“…Chromosome 22 band q11.2 has been recognized to be highly susceptible to subtle microdeletions and microduplications, which have been attributed to the…”
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Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array by de Ståhl, Teresita Díaz, Sandgren, Johanna, Piotrowski, Arkadiusz, Nord, Helena, Andersson, Robin, Menzel, Uwe, Bogdan, Adam, Thuresson, Ann-Charlotte, Poplawski, Andrzej, von Tell, Desiree, Hansson, Caisa M, Elshafie, Amir I, ElGhazali, Gehad, Imreh, Stephan, Nordenskjöld, Magnus, Upadhyaya, Meena, Komorowski, Jan, Bruder, Carl E.G, Dumanski, Jan P

“…To further explore the extent of structural large-scale variation in the human genome, we assessed copy number variations (CNVs) in a series of 71 healthy…”
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A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene by Mikhail, Fady M., Descartes, Maria, Piotrowski, Arkadiusz, Andersson, Robin, Diaz de Ståhl, Teresita, Komorowski, Jan, Bruder, Carl E.G., Dumanski, Jan P., Carroll, Andrew J.

“…Susceptibility of the chromosome 22q11.2 region to rearrangements has been recognized on the basis of common clinical disorders such as the…”
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Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression by POPŁAWSKI, Andrzej B, JANKOWSKI, Michat, KACZMARCZYK, Aneta, BENETKIEWICZ, Magdalena, ANDERSSON, Robin, SANDGREN, Johanna, ZEGARSKA, Barbara, BALA, Dariusz, SRUTEK, Ewa, ALLISON, David B, PIOTROWSKI, Arkadiusz, ZEGARSKI, Wojciech, ERICKSON, Stephen W, DUMANSKI, Jan P, DIAZ DE STAHL, Teresita, PARTRIDGE, E. Christopher, CRASTO, Chiquito, JINGYU GUO, GIBSON, John, MENZEL, Uwe, BRUDER, Carl Eg

“…Breast cancer is a major cause of morbidity and mortality in women and its metastatic spread is the principal reason behind the fatal outcome…”
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A patient with 22q11.2 deletion and Opitz syndrome‐like phenotype has the same deletion as velocardiofacial patients by Erickson, Robert P., de Ståhl, Teresita Díaz, Bruder, Carl E.G., Dumanski, Jan P.

“…Five patients were previously described with the Opitz (GBBB) syndrome (OMIM 145410) phenotype and 22q11.2 deletion determined by FISH but the precise limits…”
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A0001 - The impact of prostate cancer ADT and EBRT follow-up treatment on patient-reported quality of life – results from the EUPROMS 2.0 follow-up study by Venderbos, L.D.F., Remmers, S., Deschamps, A., Dowling, J., Carl, E-G., Perreira-Azevedo, N., Roobol, M.J.

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The impact of prostate cancer ADT and EBRT follow-up treatment on patient-reported quality of life – results from the EUPROMS 2.0 follow-up study by Venderbos, L.D.F., Remmers, S., Deschamps, A., Dowling, J., Carl, E-G., Perreira-Azevedo, N., Roobol, M.J.

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Quality of life for higher vs. lower educated men following active surveillance, radical prostatectomy or radiotherapy in the patient-initiated EUPROMS study by Venderbos, L.D.F., Remmers, S., Carl, E-G., Dowling, J., Deschamps, A., Roobol, M.J.

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Sexual function of men undergoing invasive prostate cancer treatment versus active surveillance – Results of the EUPROMS study by Venderbos, L.D.F., Deschamps, A., Carl, E-G., Dowling, J., Remmers, S., Roobol, M.J.

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684P The real effects of prostate cancer chemotherapy: Results of the EUPROMs prostate patient-driven quality of life study by Deschamps, A., Dowling, J., Carl, E-G., Remmers, S., Venderbos, L.D.F., Roobol, M.

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