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    Results: 24

    1.

    Characterization of novel and complex genomic aberrations in glioblastoma using a 32K BAC array.

    Nord H, Hartmann C, Andersson R, Menzel U, Pfeifer S, Piotrowski A, Bogdan A, Kloc W, Sandgren J, Olofsson T, Hesselager G, Blomquist E, Komorowski J, von Deimling A, Bruder CE, Dumanski JP, Díaz de Ståhl T.

    Neuro Oncol. 2009 Jun 12. [Epub ahead of print]PMID: 19304958 [PubMed - as supplied by publisher]Related articles

    2.

    Distal 22q11.2 microduplication encompassing the BCR gene.

    Descartes M, Franklin J, de Ståhl TD, Piotrowski A, Bruder CE, Dumanski JP, Carroll AJ, Mikhail FM.

    Am J Med Genet A. 2008 Dec 1;146A(23):3075-81.PMID: 19006218 [PubMed - indexed for MEDLINE]Related articles

    3.

    Somatic mosaicism for copy number variation in differentiated human tissues.

    Piotrowski A, Bruder CE, Andersson R, de Ståhl TD, Menzel U, Sandgren J, Poplawski A, von Tell D, Crasto C, Bogdan A, Bartoszewski R, Bebok Z, Krzyzanowski M, Jankowski Z, Partridge EC, Komorowski J, Dumanski JP.

    Hum Mutat. 2008 Sep;29(9):1118-24.PMID: 18570184 [PubMed - indexed for MEDLINE]Related articles

    4.

    Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.

    Bruder CE, Piotrowski A, Gijsbers AA, Andersson R, Erickson S, de Ståhl TD, Menzel U, Sandgren J, von Tell D, Poplawski A, Crowley M, Crasto C, Partridge EC, Tiwari H, Allison DB, Komorowski J, van Ommen GJ, Boomsma DI, Pedersen NL, den Dunnen JT, Wirdefeldt K, Dumanski JP.

    Am J Hum Genet. 2008 Mar;82(3):763-71. Epub 2008 Feb 14.PMID: 18304490 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    Autoantibodies to glutathione S-transferase theta 1 in patients with primary sclerosing cholangitis and other autoimmune diseases.

    Ardesjö B, Hansson CM, Bruder CE, Rorsman F, Betterle C, Dumanski JP, Kämpe O, Ekwall O.

    J Autoimmun. 2008 Jun;30(4):273-82. Epub 2008 Feb 1.PMID: 18242955 [PubMed - indexed for MEDLINE]Related articles

    6.

    A segmental maximum a posteriori approach to genome-wide copy number profiling.

    Andersson R, Bruder CE, Piotrowski A, Menzel U, Nord H, Sandgren J, Hvidsten TR, Diaz de Ståhl T, Dumanski JP, Komorowski J.

    Bioinformatics. 2008 Mar 15;24(6):751-8. Epub 2008 Jan 19.PMID: 18204059 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Statistical issues in the analysis of DNA Copy Number Variations.

    Wineinger NE, Kennedy RE, Erickson SW, Wojczynski MK, Bruder CE, Tiwari HK.

    Int J Comput Biol Drug Des. 2008 Jan 1;1(4):368-395.PMID: 19774103 [PubMed]Related articlesFree article

    8.

    Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array.

    de Ståhl TD, Sandgren J, Piotrowski A, Nord H, Andersson R, Menzel U, Bogdan A, Thuresson AC, Poplawski A, von Tell D, Hansson CM, Elshafie AI, Elghazali G, Imreh S, Nordenskjöld M, Upadhyaya M, Komorowski J, Bruder CE, Dumanski JP.

    Hum Mutat. 2008 Mar;29(3):398-408.PMID: 18058796 [PubMed - indexed for MEDLINE]Related articles

    9.

    A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients.

    Erickson RP, de Ståhl TD, Bruder CE, Dumanski JP.

    Am J Med Genet A. 2007 Dec 15;143A(24):3302-8.PMID: 18000907 [PubMed - indexed for MEDLINE]Related articles

    10.

    A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene.

    Mikhail FM, Descartes M, Piotrowski A, Andersson R, de Ståhl TD, Komorowski J, Bruder CE, Dumanski JP, Carroll AJ.

    Am J Med Genet A. 2007 Sep 15;143A(18):2178-84.PMID: 17676630 [PubMed - indexed for MEDLINE]Related articles

    11.

    Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter).

    Mikhail FM, Sathienkijkanchai A, Robin NH, Prucka S, Biggerstaff JS, Komorowski J, Andersson R, Bruder CE, Piotrowski A, de Ståhl TD, Dumanski JP, Carroll AJ.

    Am J Med Genet A. 2007 Aug 1;143A(15):1760-6.PMID: 17603794 [PubMed - indexed for MEDLINE]Related articles

    12.

    Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.

    Mantripragada KK, Thuresson AC, Piotrowski A, Díaz de Ståhl T, Menzel U, Grigelionis G, Ferner RE, Griffiths S, Bolund L, Mautner V, Nordling M, Legius E, Vetrie D, Dahl N, Messiaen L, Upadhyaya M, Bruder CE, Dumanski JP.

    J Med Genet. 2006 Jan;43(1):28-38. Epub 2005 Jun 8.PMID: 15944227 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    Growth hormone overexpression in the central nervous system results in hyperphagia-induced obesity associated with insulin resistance and dyslipidemia.

    Bohlooly-Y M, Olsson B, Bruder CE, Lindén D, Sjögren K, Bjursell M, Egecioglu E, Svensson L, Brodin P, Waterton JC, Isaksson OG, Sundler F, Ahrén B, Ohlsson C, Oscarsson J, Törnell J.

    Diabetes. 2005 Jan;54(1):51-62. Erratum in: Diabetes. 2005 Apr;54(4):1249. Bohlooly, Mohammad [corrected to Bohlooly-Y, Mohammad]. PMID: 15616010 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Gene expression profiling shows that macrophages derived from mouse embryonic stem cells is an improved in vitro model for studies of vascular disease.

    Lindmark H, Rosengren B, Hurt-Camejo E, Bruder CE.

    Exp Cell Res. 2004 Nov 1;300(2):335-44.PMID: 15474998 [PubMed - indexed for MEDLINE]Related articles

    15.

    Premature ageing in mice expressing defective mitochondrial DNA polymerase.

    Trifunovic A, Wredenberg A, Falkenberg M, Spelbrink JN, Rovio AT, Bruder CE, Bohlooly-Y M, Gidlöf S, Oldfors A, Wibom R, Törnell J, Jacobs HT, Larsson NG.

    Nature. 2004 May 27;429(6990):417-23.PMID: 15164064 [PubMed - indexed for MEDLINE]Related articles

    16.

    Strong conservation of the human NF2 locus based on sequence comparison in five species.

    Hansson CM, Ali H, Bruder CE, Fransson I, Kluge S, Andersson B, Roe BA, Menzel U, Dumanski JP.

    Mamm Genome. 2003 Aug;14(8):526-36.PMID: 12925885 [PubMed - indexed for MEDLINE]Related articles

    17.

    Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus.

    von Tell D, Bruder CE, Anderson LV, Anvret M, Ahlberg G.

    Neurogenetics. 2003 Aug;4(4):173-7. Epub 2003 Jun 27.PMID: 12836053 [PubMed - indexed for MEDLINE]Related articles

    18.

    High-resolution profiling of an 11 Mb segment of human chromosome 22 in sporadic schwannoma using array-CGH.

    Mantripragada KK, Buckley PG, Benetkiewicz M, De Bustos C, Hirvelä C, Jarbo C, Bruder CE, Wensman H, Mathiesen T, Nyberg G, Papi L, Collins VP, Ichimura K, Evans G, Dumanski JP.

    Int J Oncol. 2003 Mar;22(3):615-22.PMID: 12579316 [PubMed - indexed for MEDLINE]Related articles

    19.

    A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications.

    Buckley PG, Mantripragada KK, Benetkiewicz M, Tapia-Páez I, Diaz De Ståhl T, Rosenquist M, Ali H, Jarbo C, De Bustos C, Hirvelä C, Sinder Wilén B, Fransson I, Thyr C, Johnsson BI, Bruder CE, Menzel U, Hergersberg M, Mandahl N, Blennow E, Wedell A, Beare DM, Collins JE, Dunham I, Albertson D, Pinkel D, Bastian BC, Faruqi AF, Lasken RS, Ichimura K, Collins VP, Dumanski JP.

    Hum Mol Genet. 2002 Dec 1;11(25):3221-9.PMID: 12444106 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH.

    Bruder CE, Hirvelä C, Tapia-Paez I, Fransson I, Segraves R, Hamilton G, Zhang XX, Evans DG, Wallace AJ, Baser ME, Zucman-Rossi J, Hergersberg M, Boltshauser E, Papi L, Rouleau GA, Poptodorov G, Jordanova A, Rask-Andersen H, Kluwe L, Mautner V, Sainio M, Hung G, Mathiesen T, Möller C, Pulst SM, Harder H, Heiberg A, Honda M, Niimura M, Sahlén S, Blennow E, Albertson DG, Pinkel D, Dumanski JP.

    Hum Mol Genet. 2001 Feb 1;10(3):271-82.PMID: 11159946 [PubMed - indexed for MEDLINE]Related articlesFree article

    21.

    Fine mapping of the constitutional translocation t(11;22)(q23;q11).

    Tapia-Páez I, O'Brien KP, Kost-Alimova M, Sahlén S, Kedra D, Bruder CE, Andersson B, Roe BA, Hu P, Imreh S, Blennow E, Dumanski JP.

    Hum Genet. 2000 May;106(5):506-16.PMID: 10914680 [PubMed - indexed for MEDLINE]Related articles

    22.

    A group of schwannomas with interstitial deletions on 22q located outside the NF2 locus shows no detectable mutations in the NF2 gene.

    Bruder CE, Ichimura K, Tingby O, Hirakawa K, Komatsuzaki A, Tamura A, Yuasa Y, Collins VP, Dumanski JP.

    Hum Genet. 1999 May;104(5):418-24.PMID: 10394935 [PubMed - indexed for MEDLINE]Related articles

    23.

    Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4-MB constitutional deletion on chromosome 22: possible localization of a neurofibromatosis type 2 modifier gene?

    Bruder CE, Ichimura K, Blennow E, Ikeuchi T, Yamaguchi T, Yuasa Y, Collins VP, Dumanski JP.

    Genes Chromosomes Cancer. 1999 Jun;25(2):184-90.PMID: 10338003 [PubMed - indexed for MEDLINE]Related articles

    24.

    The mouse ortholog of the human SMARCB1 gene encodes two splice forms.

    Bruder CE, Dumanski JP, Kedra D.

    Biochem Biophys Res Commun. 1999 Apr 21;257(3):886-90.PMID: 10208879 [PubMed - indexed for MEDLINE]Related articles

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