Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

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Publikationen

Suchbegriffe: CHROMOSOME DELETION - , . Treffer: 27

2016

Bogen, D; Brunner, C; Walder, D; Ziegler, A; Abbasi, R; Ladenstein, RL; Noguera, R; Martinsson, T; Amann, G; Schilling, FH; Ussowicz, M; Benesch, M; Ambros, PF; Ambros, IM The genetic tumor background is an important determinant for heterogeneous MYCN-amplified neuroblastoma.
Int J Cancer. 2016; 139(1):153-163 [OPEN ACCESS]
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D'Angelo, D; Lebon, S; Chen, Q; Martin-Brevet, S; Snyder, LG; Hippolyte, L; Hanson, E; Maillard, AM; Faucett, WA; Macé, A; Pain, A; Bernier, R; Chawner, SJ; David, A; Andrieux, J; Aylward, E; Baujat, G; Caldeira, I; Conus, P; Ferrari, C; Forzano, F; Gérard, M; Goin-Kochel, RP; Grant, E; Hunter, JV; Isidor, B; Jacquette, A; Jønch, AE; Keren, B; Lacombe, D; Le Caignec, C; Martin, CL; Männik, K; Metspalu, A; Mignot, C; Mukherjee, P; Owen, MJ; Passeggeri, M; Rooryck-Thambo, C; Rosenfeld, JA; Spence, SJ; Steinman, KJ; Tjernagel, J; Van Haelst, M; Shen, Y; Draganski, B; Sherr, EH; Ledbetter, DH; van den Bree, MB; Beckmann, JS; Spiro, JE; Reymond, A; Jacquemont, S; Chung, WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
JAMA Psychiatry. 2016; 73(1): 20-30. [OPEN ACCESS]
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2014

Casper, M; Petek, E; Henn, W; Niewald, M; Schneider, G; Zimmer, V; Lammert, F; Raedle, J Multidisciplinary treatment of desmoid tumours in Gardner's syndrome due to a large interstitial deletion of chromosome 5q.
QJM. 2014; 107(7):521-527 (- Case Report) [OPEN ACCESS]
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Plecko, B; Paul, K; Mills, P; Clayton, P; Paschke, E; Maier, O; Hasselmann, O; Schmiedel, G; Kanz, S; Connolly, M; Wolf, N; Struys, E; Stockler, S; Abela, L; Hofer, D Pyridoxine responsiveness in novel mutations of the PNPO gene.
Neurology. 2014; 82(16):1425-1433 [OPEN ACCESS]
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Topakian, R; Wimmer, S; Pischinger, B; Pichler, R Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy.
BMJ Case Rep. 2014; 2014(1): (- Case Report) [OPEN ACCESS]
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2013

Tatton-Brown, K; Murray, A; Hanks, S; Douglas, J; Armstrong, R; Banka, S; Bird, LM; Clericuzio, CL; Cormier-Daire, V; Cushing, T; Flinter, F; Jacquemont, ML; Joss, S; Kinning, E; Lynch, SA; Magee, A; McConnell, V; Medeira, A; Ozono, K; Patton, M; Rankin, J; Shears, D; Simon, M; Splitt, M; Strenger, V; Stuurman, K; Taylor, C; Titheradge, H; Van Maldergem, L; Temple, IK; Cole, T; Seal, S; Childhood Overgrowth Consortium; Rahman, N Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Am J Med Genet A. 2013; 161A(12):2972-2980 [OPEN ACCESS]
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2012

Spengler, S; Begemann, M; Ortiz Brüchle, N; Baudis, M; Denecke, B; Kroisel, PM; Oehl-Jaschkowitz, B; Schulze, B; Raabe-Meyer, G; Spaich, C; Blümel, P; Jauch, A; Moog, U; Zerres, K; Eggermann, T Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features.
J Pediatr. 2012; 161(5):933-942 [OPEN ACCESS]
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Ţuţulan-Cunită, AC; Papuc, SM; Arghir, A; Rötzer, KM; Deshpande, C; Lungeanu, A; Budişteanu, M 3p interstitial deletion: novel case report and review.
J Child Neurol. 2012; 27(8):1062-1066 (- Case Report)
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2010

Hartmann, S; Gesk, S; Scholtysik, R; Kreuz, M; Bug, S; Vater, I; Doring, C; Cogliatti, S; Parrens, M; Merlio, JP; Kwiecinska, A; Porwit, A; Piccaluga, PP; Pileri, S; Hoefler, G; Kuppers, R; Siebert, R; Hansmann, ML High resolution SNP array genomic profiling of peripheral T cell lymphomas, not otherwise specified, identifies a subgroup with chromosomal aberrations affecting the REL locus.
BRIT J HAEMATOL. 2010; 148(3): 402-412.
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2009

Schwarzbraun, T; Obenauf, A; Langmann, A; Gruber-Sedlmayr, U; Wagner, K; Speicher, M; Kroisel, P Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.
J Med Genet. 2009; 46(5): 341-344. (- Case Report) [OPEN ACCESS]
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2008

Cichocki, M; Singer, G; Beyerlein, S; Zeder, SL; Schober, P; Hoellwarth, M A case of necrotizing enterocolitis associated with adenovirus infection in a term infant with 22q11 deletion syndrome.
J PEDIAT SURG. 2008; 43(4): e5-e8. (- Case Report)
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Kroepfl, T; Petek, E; Schwarzbraun, T; Kroisel, PM; Plecko, B Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1).
Clin Genet. 2008; 73(5):492-495
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Merkel, O; Heyder, C; Asslaber, D; Hamacher, F; Tinhofer, I; Holler, C; Stöcher, M; Prokesch, A; Papak, C; Scheideler, M; Trajanoski, Z; Greil, R Arsenic trioxide induces apoptosis preferentially in B-CLL cells of patients with unfavourable prognostic factors including del17p13.
J Mol Med (Berl). 2008; 86(5): 541-552.
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Schule, R; Kremer, BPH; Kassubek, J; Auer-Grumbach, M; Kostic, V; Klopstock, T; Klimpe, S; Otto, S; Boesch, S; van de Warrenburg, BP; Schols, L SPG10 is a rare cause of spastic paraplegia in European families.
J Neurol Neurosurg Psychiatry. 2008; 79(5):584-587
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2007

Uhrig, S; Schlembach, D; Waldispuehl-Geigl, J; Schaffer, W; Geigl, J; Klopocki, E; Mundlos, S; Speicher, MR Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.
Am J Hum Genet. 2007; 81(4): 866-868. [OPEN ACCESS]
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2006

Langer, S; Geigl, JB; Wagenstaller, J; Lederer, G; Hempel, M; Daumer-Haas, C; Leifheit, HJ; Speicher, MR Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy.
Am J Med Genet A. 2006; 140(7):764-768 (- Case Report)
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2005

Wieser, R; Fritz, B; Ullmann, R; Müller, I; Galhuber, M; Storlazzi, CT; Ramaswamy, A; Christiansen, H; Shimizu, N; Rehder, H Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney.
Hum Mutat. 2005; 26(2): 78-83. (- Case Report)
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2003

Petek, E; Plecko-Startinig, B; Windpassinger, C; Egger, H; Wagner, K; Kroisel, PM Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies.
J Med Genet. 2003; 40(4):e47-e47 (- Case Report) [OPEN ACCESS]
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Petek, E; Windpassinger, C; Mach, M; Rauter, L; Scherer, SW; Wagner, K; Kroisel, PM Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus.
AM J MED GENET PART A. 2003; 117A(2): 122-126. (- Case Report)
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2002

Bunz, F; Fauth, C; Speicher, MR; Dutriaux, A; Sedivy, JM; Kinzler, KW; Vogelstein, B; Lengauer, C Targeted inactivation of p53 in human cells does not result in aneuploidy.
Cancer Res. 2002; 62(4):1129-1133 [OPEN ACCESS]
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Martin, CL; Waggoner, DJ; Wong, A; Uhrig, S; Roseberry, JA; Hedrick, JF; Pack, SD; Russell, K; Zackai, E; Dobyns, WB; Ledbetter, DH Molecular rulers for calibrating phenotypic effects of telomere imbalance.
J Med Genet. 2002; 39(10):734-740 (- Case Report) [OPEN ACCESS]
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2000

Holinski-Feder, E; Reyniers, E; Uhrig, S; Golla, A; Wauters, J; Kroisel, P; Bossuyt, P; Rost, I; Jedele, K; Zierler, H; Schwab, S; Wildenauer, D; Speicher, MR; Willems, PJ; Meitinger, T; Kooy, RF Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).
Am J Hum Genet. 2000; 66(1):16-25 [OPEN ACCESS]
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1994

Speicher, MR; Prescher, G; du Manoir, S; Jauch, A; Horsthemke, B; Bornfeld, N; Becher, R; Cremer, T Chromosomal gains and losses in uveal melanomas detected by comparative genomic hybridization.
Cancer Res. 1994; 54(14):3817-3823 [OPEN ACCESS]
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1992

Lengauer, C; Riethman, HC; Speicher, MR; Taniwaki, M; Konecki, D; Green, ED; Becher, R; Olson, MV; Cremer, T Metaphase and interphase cytogenetics with Alu-PCR-amplified yeast artificial chromosome clones containing the BCR gene and the protooncogenes c-raf-1, c-fms, and c-erbB-2.
Cancer Res. 1992; 52(9):2590-2596 [OPEN ACCESS]
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1991

Graninger, W; Wintersberger, W; Meron, G; Smolen, J; Toifl, K; Vormittag, W Molecular biology in diagnosis and detection of deletion in Duchenne muscular dystrophy
Wien Klin Wochenschr. 1991; 103(7): 207-209.
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Vortkamp, A; Thias, U; Gessler, M; Rosenkranz, W; Kroisel, PM; Tommerup, N; Krüger, G; Götz, J; Pelz, L; Grzeschik, KH A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p.
Genomics. 1991; 11(3):737-743 [OPEN ACCESS]
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1988

Graninger, WB; Goldman, PL; Morton, CC; O'Brien, SJ; Korsmeyer, SJ The kappa-deleting element. Germline and rearranged, duplicated and dispersed forms.
J Exp Med. 1988; 167(2):488-501 [OPEN ACCESS]
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