Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Carl E.G. Bruder"'
Autor:
Stephen W. Erickson, E. Christopher Partridge, Carl E.G. Bruder, David B. Allison, Johanna Sandgren, Ewa Srutek, Jan P. Dumanski, Chiquito J. Crasto, Robin Andersson, Jingyu Guo, Aneta Kaczmarczyk, Uwe Menzel, Teresita Díaz de Ståhl, Michał Jankowski, Andrzej Poplawski, Barbara Zegarska, Wojciech Zegarski, Dariusz Bala, John W. Gibson, Magdalena Benetkiewicz, Arkadiusz Piotrowski
Publikováno v:
European Journal of Human Genetics. 18:560-568
Breast cancer is a major cause of morbidity and mortality in women and its metastatic spread is the principal reason behind the fatal outcome. Metastasis-related research of breast cancer is however underdeveloped when compared with the abundant lite
Autor:
Adam Bogdan, Magnus Nordenskjöld, Jan Komorowski, Carl E.G. Bruder, Teresita Díaz de Ståhl, Meena Upadhyaya, Jan P. Dumanski, Ann-Charlotte Thuresson, Amir I. Elshafie, Gehad ElGhazali, Stephan Imreh, Desiree von Tell, Caisa M. Hansson, Robin Andersson, Helena Nord, Johanna Sandgren, Uwe Menzel, Andrzej Poplawski, Arkadiusz Piotrowski
Publikováno v:
Human Mutation. 29:398-408
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 subjects from three ethnic groups. CNVs were analyzed using comparative genomic hybridization (
Autor:
Arkadiusz Piotrowski, Uwe Menzel, Torgeir R. Hvidsten, Jan Komorowski, Teresita Diaz de Ståhl, Carl E.G. Bruder, Jan P. Dumanski, Helena Nord, Johanna Sandgren, Robin Andersson
Publikováno v:
Bioinformatics. 24:751-758
Motivation: Copy number profiling methods aim at assigning DNA copy numbers to chromosomal regions using measurements from microarray-based comparative genomic hybridizations. Among the proposed methods to this end, Hidden Markov Model (HMM)-based ap
Autor:
Achara Sathienkijkanchai, Teresita Díaz de Ståhl, Andrew J. Carroll, Carl E.G. Bruder, Nathaniel H. Robin, Robin Andersson, Jan Komorowski, Fady M. Mikhail, Arkadiusz Piotrowski, Sandra Prucka, Jan P. Dumanski, Julie Sanford Biggerstaff
Publikováno v:
American Journal of Medical Genetics Part A. :1760-1766
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 terminal 11p. Each of these is associated with the well-known clinical phenotypes of Wolf-Hirsch
Publikováno v:
American Journal of Medical Genetics Part A. :3302-3308
Five patients were previously described with the Opitz (GBBB) syndrome (OMIM 145410) phenotype and 22q11.2 deletion determined by FISH but the precise limits of their deletions have not been determined. Since one locus for Opitz syndrome maps to 22q1
Autor:
Camino de Juan Romero, José Miguel Sanz-Anquela, Carl E.G. Bruder, Víctor Borrell, Ugo Tomasello
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Gyrencephalic species develop folds in the cerebral cortex in a stereotypic manner, but the genetic mechanisms underlying this patterning process are unknown. We present a large-scale transcriptomic analysis of individual germinal layers in the devel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e01db4b3bee71fcb9afb8212535f3cbb
https://hdl.handle.net/20.500.12530/22066
https://hdl.handle.net/20.500.12530/22066
Autor:
Ludwine Messiaen, David Vetrie, Gintautas Grigelionis, Niklas Dahl, Ann-Charlotte Thuresson, Eric Legius, Arkadiusz Piotrowski, Carl E.G. Bruder, M. Nordling, Jan P. Dumanski, T. Diaz de Stahl, Victor F. Mautner, Kiran Kumar Mantripragada, Lars Bolund, Meena Upadhyaya, Rosalie E. Ferner, Sian Wyn Griffiths, Uwe Menzel
Publikováno v:
Matripragada, K K, Thuresson, A-C, Piotrowski, A, Díaz de Ståhl, T, Menzel, U, Grigelionis, G, Ferner, R E, Griffiths, S, Bolund, L, Mautner, V, Nordling, M, Legius, E, Vetrie, D, Dahl, N, Messiaen, L, Upadhyaya, M, Bruder, C E G & Dumanski, J P 2006, ' Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH. ', Journal of Medical Genetics, vol. 43, pp. 28-38 .
BACKGROUND: Segmental duplications flanking the neurofibromatosis type 1 (NF1) gene locus on 17q11 mediate most gene deletions in NF1 patients. However, the large size of the gene and the complexity of the locus architecture pose difficulties in dele
Publikováno v:
Experimental Cell Research. 300:335-344
Macrophages (Mphi) play an important role in the initiation and progress of the atherogenic process. They contribute to the growth of atherosclerotic plaque by affecting lipoprotein metabolism, matrix homeostasis, lipoprotein modification and cholest
Autor:
Sebastian Gidlöf, Howard T. Jacobs, Carl E.G. Bruder, Jan Törnell, Nils-Göran Larsson, Maria Falkenberg, Anders Oldfors, Rolf Wibom, Mohammad Bohlooly-Y, Anna Wredenberg, Anja T. Rovio, Johannes N. Spelbrink, Aleksandra Trifunovic
Publikováno v:
Nature. 429:417-423
Point mutations and deletions of mitochondrial DNA (mtDNA) accumulate in a variety of tissues during ageing in humans, monkeys and rodents. These mutations are unevenly distributed and can accumulate clonally in certain cells, causing a mosaic patter
Autor:
Sindy Kluge, Björn Andersson, Carl E.G. Bruder, Ingegerd Fransson, Jan P. Dumanski, Caisa M. Hansson, Bruce A. Roe, Haider Ali, Uwe Menzel
Publikováno v:
Mammalian Genome. 14:526-536
We analyzed 137 kb covering human neurofibromatosis 2 ( NF2) tumor suppressor locus and orthologous loci from baboon, mouse, rat, and pufferfish Takifugu rubripes. A predominant feature of human-rodent conservation is a very similar distribution of c