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

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Publikationen

Suchbegriffe: HOMOZYGOTE - , . Treffer: 50

2018

Geoffroy, V; Stoetzel, C; Scheidecker, S; Schaefer, E; Perrault, I; Bär, S; Kröll, A; Delbarre, M; Antin, M; Leuvrey, AS; Henry, C; Blanché, H; Decker, E; Kloth, K; Klaus, G; Mache, C; Martin-Coignard, D; McGinn, S; Boland, A; Deleuze, JF; Friant, S; Saunier, S; Rozet, JM; Bergmann, C; Dollfus, H; Muller, J Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
HUM MUTAT. 2018; 39(7): 983-992. Doi: 10.1002/humu.23539 [OPEN ACCESS]
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Graffmann, N; Bohndorf, M; Ncube, A; Wruck, W; Kashofer, K; Zatloukal, K; Adjaye, J Establishment and characterization of an iPSC line from a 58 years old high grade patient with nonalcoholic fatty liver disease (70% steatosis) with homozygous wildtype PNPLA3 genotype.
Stem Cell Res. 2018; 31(4):131-134 Doi: 10.1016/j.scr.2018.07.011 (- Case Report) [OPEN ACCESS]
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2017

Renner, W; Langsenlehner, U; Krenn-Pilko, S; Eder, P; Langsenlehner, T BCL2 genotypes and prostate cancer survival.
Strahlenther Onkol. 2017; 193(6):466-471 Doi: 10.1007/s00066-017-1126-9 [OPEN ACCESS]
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Widhalm, K; Benke, IM; Fritz, M; Geiger, H; Helk, O; Fritsch, M; Hoermann, G; Kostner, G Homozygous familial hypercholesterolemia: Summarized case reports.
Atherosclerosis. 2017; 257:86-89 Doi: 10.1016/j.atherosclerosis.2017.01.002 (- Case Report)
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2016

Khan, MA; Mohan, S; Zubair, M; Windpassinger, C Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.
BMC Med Genet. 2016; 17(6): 10-10. Doi: 10.1186/s12881-016-0271-9 [OPEN ACCESS]
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2015

Alkhairy, OK; Perez-Becker, R; Driessen, GJ; Abolhassani, H; van Montfrans, J; Borte, S; Choo, S; Wang, N; Tesselaar, K; Fang, M; Bienemann, K; Boztug, K; Daneva, A; Mechinaud, F; Wiesel, T; Becker, C; Dückers, G; Siepermann, K; van Zelm, MC; Rezaei, N; van der Burg, M; Aghamohammadi, A; Seidel, MG; Niehues, T; Hammarström, L Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.
J Allergy Clin Immunol. 2015; 136(3):703-712 Doi: 10.1016/j.jaci.2015.02.022
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Benke, K; Ágg, B; Mátyás, G; Szokolai, V; Harsányi, G; Szilveszter, B; Odler, B; Pólos, M; Maurovich-Horvat, P; Radovits, T; Merkely, B; Nagy, ZB; Szabolcs, Z Gene polymorphisms as risk factors for predicting the cardiovascular manifestations in Marfan syndrome. Role of folic acid metabolism enzyme gene polymorphisms in Marfan syndrome.
Thromb Haemost. 2015; 114(4): 748-756. Doi: 10.1160/TH15-02-0096
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Enko, D; Kriegshäuser, G; Kimbacher, C; Stolba, R; Mangge, H; Halwachs-Baumann, G Carbohydrate Malabsorption and Putative Carbohydrate-Specific Small Intestinal Bacterial Overgrowth: Prevalence and Diagnostic Overlap Observed in an Austrian Outpatient Center.
Digestion. 2015; 92(1):32-38 Doi: 10.1159/000430981
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Joshi, PK; Esko, T; Mattsson, H; Eklund, N; Gandin, I; Nutile, T; Jackson, AU; Schurmann, C; Smith, AV; Zhang, W; Okada, Y; Stančáková, A; Faul, JD; Zhao, W; Bartz, TM; Concas, MP; Franceschini, N; Enroth, S; Vitart, V; Trompet, S; Guo, X; Chasman, DI; O'Connel, JR; Corre, T; Nongmaithem, SS; Chen, Y; Mangino, M; Ruggiero, D; Traglia, M; Farmaki, AE; Kacprowski, T; Bjonnes, A; van der Spek, A; Wu, Y; Giri, AK; Yanek, LR; Wang, L; Hofer, E; Rietveld, CA; McLeod, O; Cornelis, MC; Pattaro, C; Verweij, N; Baumbach, C; Abdellaoui, A; Warren, HR; Vuckovic, D; Mei, H; Bouchard, C; Perry, JRB; Cappellani, S; Mirza, SS; Benton, MC; Broeckel, U; Medland, SE; Lind, PA; Malerba, G; Drong, A; Yengo, L; Bielak, LF; Zhi, D; van der Most, PJ; Shriner, D; Mägi, R; Hemani, G; Karaderi, T; Wang, Z; Liu, T; Demuth, I; Zhao, JH; Meng, W; Lataniotis, L; van der Laan, SW; Bradfield, JP; Wood, AR; Bonnefond, A; Ahluwalia, TS; Hall, LM; Salvi, E; Yazar, S; Carstensen, L; de Haan, HG; Abney, M; Afzal, U; Allison, MA; Amin, N; Asselbergs, FW; Bakker, SJL; Barr, RG; Baumeister, SE; Benjamin, DJ; Bergmann, S; Boerwinkle, E; Bottinger, EP; Campbell, A; Chakravarti, A; Chan, Y; Chanock, SJ; Chen, C; Chen, YI; Collins, FS; Connell, J; Correa, A; Cupples, LA; Smith, GD; Davies, G; Dörr, M; Ehret, G; Ellis, SB; Feenstra, B; Feitosa, MF; Ford, I; Fox, CS; Frayling, TM; Friedrich, N; Geller, F; Scotland, G; Gillham-Nasenya, I; Gottesman, O; Graff, M; Grodstein, F; Gu, C; Haley, C; Hammond, CJ; Harris, SE; Harris, TB; Hastie, ND; Heard-Costa, NL; Heikkilä, K; Hocking, LJ; Homuth, G; Hottenga, JJ; Huang, J; Huffman, JE; Hysi, PG; Ikram, MA; Ingelsson, E; Joensuu, A; Johansson, Å; Jousilahti, P; Jukema, JW; Kähönen, M; Kamatani, Y; Kanoni, S; Kerr, SM; Khan, NM; Koellinger, P; Koistinen, HA; Kooner, MK; Kubo, M; Kuusisto, J; Lahti, J; Launer, LJ; Lea, RA; Lehne, B; Lehtimäki, T; Liewald, DCM; Lind, L; Loh, M; Lokki, ML; London, SJ; Loomis, SJ; Loukola, A; Lu, Y; Lumley, T; Lundqvist, A; Männistö, S; Marques-Vidal, P; Masciullo, C; Matchan, A; Mathias, RA; Matsuda, K; Meigs, JB; Meisinger, C; Meitinger, T; Menni, C; Mentch, FD; Mihailov, E; Milani, L; Montasser, ME; Montgomery, GW; Morrison, A; Myers, RH; Nadukuru, R; Navarro, P; Nelis, M; Nieminen, MS; Nolte, IM; O'Connor, GT; Ogunniyi, A; Padmanabhan, S; Palmas, WR; Pankow, JS; Patarcic, I; Pavani, F; Peyser, PA; Pietilainen, K; Poulter, N; Prokopenko, I; Ralhan, S; Redmond, P; Rich, SS; Rissanen, H; Robino, A; Rose, LM; Rose, R; Sala, C; Salako, B; Salomaa, V; Sarin, AP; Saxena, R; Schmidt, H; Scott, LJ; Scott, WR; Sennblad, B; Seshadri, S; Sever, P; Shrestha, S; Smith, BH; Smith, JA; Soranzo, N; Sotoodehnia, N; Southam, L; Stanton, AV; Stathopoulou, MG; Strauch, K; Strawbridge, RJ; Suderman, MJ; Tandon, N; Tang, ST; Taylor, KD; Tayo, BO; Töglhofer, AM; Tomaszewski, M; Tšernikova, N; Tuomilehto, J; Uitterlinden, AG; Vaidya, D; van Hylckama Vlieg, A; van Setten, J; Vasankari, T; Vedantam, S; Vlachopoulou, E; Vozzi, D; Vuoksimaa, E; Waldenberger, M; Ware, EB; Wentworth-Shields, W; Whitfield, JB; Wild, S; Willemsen, G; Yajnik, CS; Yao, J; Zaza, G; Zhu, X; Project, TBJ; Salem, RM; Melbye, M; Bisgaard, H; Samani, NJ; Cusi, D; Mackey, DA; Cooper, RS; Froguel, P; Pasterkamp, G; Grant, SFA; Hakonarson, H; Ferrucci, L; Scott, RA; Morris, AD; Palmer, CNA; Dedoussis, G; Deloukas, P; Bertram, L; Lindenberger, U; Berndt, SI; Lindgren, CM; Timpson, NJ; Tönjes, A; Munroe, PB; Sørensen, TIA; Rotimi, CN; Arnett, DK; Oldehinkel, AJ; Kardia, ... Directional dominance on stature and cognition in diverse human populations.
Nature. 2015; 523(7561):459-462 Doi: 10.1038/nature14618 [OPEN ACCESS]
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Rafiq, MA; Leblond, CS; Saqib, MA; Vincent, AK; Ambalavanan, A; Khan, FS; Ayaz, M; Shaheen, N; Spiegelman, D; Ali, G; Amin-ud-Din, M; Laurent, S; Mahmood, H; Christian, M; Ali, N; Fennell, A; Nanjiani, Z; Egger, G; Caron, C; Waqas, A; Ayub, M; Rasheed, S; Forgeot d'Arc, B; Johnson, A; So, J; Brohi, MQ; Mottron, L; Ansar, M; Vincent, JB; Xiong, L Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
BMC Med Genet. 2015; 16(7):41-41 Doi: 10.1186/s12881-015-0183-0 (- Case Report) [OPEN ACCESS]
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2014

Bernkopf, M; Webersinke, G; Tongsook, C; Koyani, CN; Rafiq, MA; Ayaz, M; Müller, D; Enzinger, C; Aslam, M; Naeem, F; Schmidt, K; Gruber, K; Speicher, MR; Malle, E; Macheroux, P; Ayub, M; Vincent, JB; Windpassinger, C; Duba, HC Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
Hum Mol Genet. 2014; 23(15):4015-4023 Doi: 10.1093/hmg/ddu115 [OPEN ACCESS]
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Rominger, C; Weiss, EM; Nagl, S; Niederstätter, H; Parson, W; Papousek, I Carriers of the COMT Met/Met allele have higher degrees of hypnotizability, provided that they have good attentional control: a case of gene-trait interaction.
Int J Clin Exp Hypn. 2014; 62(4):455-482 Doi: 10.1080/00207144.2014.931177
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Shah, MH; Bhat, V; Shetty, JS; Kumar, A Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.
Mol Vis. 2014; 20(4):790-796 (- Case Report) [OPEN ACCESS]
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Stickel, F; Buch, S; Zoller, H; Hultcrantz, R; Gallati, S; Österreicher, C; Finkenstedt, A; Stadlmayr, A; Aigner, E; Sahinbegovic, E; Sarrazin, C; Schafmayer, C; Braun, F; Erhart, W; Nothnagel, M; Lerch, MM; Mayerle, J; Völzke, H; Schaller, A; Kratzer, W; Boehm, BO; Sipos, B; D'Amato, M; Torkvist, L; Stal, P; Arlt, A; Franke, A; Becker, T; Krawczak, M; Zwerina, J; Berg, T; Hinrichsen, H; Krones, E; Dejaco, C; Strasser, M; Datz, C; Hampe, J Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.
Hum Mol Genet. 2014; 23(14):3883-3890 Doi: 10.1093/hmg/ddu076 [OPEN ACCESS]
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2013

Scherzer, TM; Stättermayer, AF; Stauber, R; Maieron, A; Strasser, M; Laferl, H; Schwarzer, R; Datz, C; Rutter, K; Beinhardt, S; Steindl-Munda, P; Hofer, H; Ferenci, P Effect of gender and ITPA polymorphisms on ribavirin-induced anemia in chronic hepatitis C patients.
J Hepatol. 2013; 59(5):964-971 Doi: 10.1016/j.jhep.2013.06.030
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Schutte, JK; Schafer, U; Becker, S; Oldewurtel, C; Starosse, A; Singler, P; Richard, A; Wappler, F; Gerbershagen, MU; 3,4-Methylenedioxymethamphetamine induces a hyperthermic and hypermetabolic crisis in pigs with and without a genetic disposition for malignant hyperthermia.
Eur J Anaesthesiol. 2013; 30(1):29-37 Doi: 10.1097/EJA.0b013e32835a1127 [OPEN ACCESS]
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Told, R; Palkovits, S; Haslacher, H; Frantal, S; Schmidl, D; Boltz, A; Lasta, M; Kaya, S; Werkmeister, RM; Garhöfer, G; Schmetterer, L Alterations of choroidal blood flow regulation in young healthy subjects with complement factor H polymorphism.
PLoS One. 2013; 8(4):e60424-e60424 Doi: 10.1371/journal.pone.0060424 [OPEN ACCESS]
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2012

Goonasekera, SA; Hammer, K; Auger-Messier, M; Bodi, I; Chen, X; Zhang, H; Reiken, S; Elrod, JW; Correll, RN; York, AJ; Sargent, MA; Hofmann, F; Moosmang, S; Marks, AR; Houser, SR; Bers, DM; Molkentin, JD Decreased cardiac L-type Ca²⁺ channel activity induces hypertrophy and heart failure in mice.
J Clin Invest. 2012; 122(1):280-290 Doi: 10.1172/JCI58227 [OPEN ACCESS]
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Grünhage, F; Hochrath, K; Krawczyk, M; Höblinger, A; Obermayer-Pietsch, B; Geisel, J; Trauner, M; Sauerbruch, T; Lammert, F Common genetic variation in vitamin D metabolism is associated with liver stiffness.
Hepatology. 2012; 56(5):1883-1891 Doi: 10.1002/hep.25830 [OPEN ACCESS]
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Khan, MA; Rafiq, MA; Noor, A; Hussain, S; Flores, JV; Rupp, V; Vincent, AK; Malli, R; Ali, G; Khan, FS; Ishak, GE; Doherty, D; Weksberg, R; Ayub, M; Windpassinger, C; Ibrahim, S; Frye, M; Ansar, M; Vincent, JB Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Am J Hum Genet. 2012; 90(5):856-863 Doi: 10.1016/j.ajhg.2012.03.023 [OPEN ACCESS]
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Klymiuk, I; Kenner, L; Adler, T; Busch, DH; Boersma, A; Irmler, M; Fridrich, B; Gailus-Durner, V; Fuchs, H; Leitner, N; Müller, M; Kühn, R; Schlederer, M; Treise, I; de Angelis, MH; Beckers, J In vivo functional requirement of the mouse Ifitm1 gene for germ cell development, interferon mediated immune response and somitogenesis.
PLoS One. 2012; 7(10): e44609-e44609. Doi: 10.1371/journal.pone.0044609 [OPEN ACCESS]
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Van Der Werf, CS; Wabbersen, TD; Hsiao, NH; Paredes, J; Etchevers, HC; Kroisel, PM; Tibboel, D; Babarit, C; Schreiber, RA; Hoffenberg, EJ; Vekemans, M; Zeder, SL; Ceccherini, I; Lyonnet, S; Ribeiro, AS; Seruca, R; Te Meerman, GJ; van Ijzendoorn, SC; Shepherd, IT; Verheij, JB; Hofstra, RM CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
Gastroenterology. 2012; 142(3):453-462 Doi: 10.1053/j.gastro.2011.11.038
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Weghofer, A; Tea, MK; Barad, DH; Kim, A; Singer, CF; Wagner, K; Gleicher, N BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"?
PLoS One. 2012; 7(9):e44753-e44753 Doi: 10.1371/journal.pone.0044753 [OPEN ACCESS]
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2011

Gugatschka, M; Dehchamani, D; Wascher, TC; Friedrich, G; Renner, W DNA repair gene ERCC2 polymorphisms and risk of squamous cell carcinoma of the head and neck.
Exp Mol Pathol. 2011; 91(1): 331-334. Doi: 10.1016/j.yexmp.2011.03.004
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Widhalm, K; Binder, CB; Kreissl, A; Aldover-Macasaet, E; Fritsch, M; Kroisboeck, S; Geiger, H Sudden death in a 4-year-old boy: a near-complete occlusion of the coronary artery caused by an aggressive low-density lipoprotein receptor mutation (W556R) in homozygous familial hypercholesterolemia.
J Pediatr. 2011; 158(1): 167-167. Doi: 10.1016/j.jpeds.2010.06.027 (- Case Report)
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Williams, T; Machann, W; Kühler, L; Hamm, H; Müller-Höcker, J; Zimmer, M; Ertl, G; Ritter, O; Beer, M; Schönberger, J Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
Clin Res Cardiol. 2011; 100(12):1087-1093 Doi: 10.1007/s00392-011-0345-9 (- Case Report) [OPEN ACCESS]
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2010

Furthner, D; Biebl, A; Weinzettel, R; Schmitt, K; Lahr, G; Ebetsberger, G; Rittinger, O; Schulz, AS Osteopetrosis due to homozygous chloride channel ClCN7 mutation mimicking metabolic disease with haematological and neurological impairment.
Klin Padiatr. 2010; 222(3):180-183 Doi: 10.1055/s-0029-1233492 (- Case Report)
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Papić, L; Fischer, D; Trajanoski, S; Höftberger, R; Fischer, C; Ströbel, T; Schmidt, WM; Bittner, RE; Schabhüttl, M; Gruber, K; Pieber, TR; Janecke, AR; Auer-Grumbach, M SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.
Eur J Med Genet. 2010; 54(3):214-219 Doi: 10.1016/j.ejmg.2010.12.003 [OPEN ACCESS]
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2009

Danzer, M; Polin, H; Pröll, J; Haunschmid, R; Hofer, K; Stabentheiner, S; Hackl, C; Kasparu, H; König, J; Hauser, H; Binder, M; Weiss, R; Gabriel, C; Krieger, O Clinical significance of HLA-E*0103 homozygosity on survival after allogeneic hematopoietic stem-cell transplantation.
Transplantation. 2009; 88(4): 528-532. Doi: 10.1097/TP.0b013e3181b0e79e
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Hofmann, G; Langsenlehner, U; Langsenlehner, T; Yazdani-Biuki, B; Clar, H; Gerger, A; Fuerst, F; Samonigg, H; Krippl, P; Renner, W A common hereditary single-nucleotide polymorphism in the gene of FAS and colorectal cancer survival.
J Cell Mol Med. 2009; 13(9B):3699-3702 Doi: 10.1111/j.1582-4934.2009.00720.x [OPEN ACCESS]
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Hohoff, C; Neumann, A; Domschke, K; Jacob, C; Maier, W; Fritze, J; Bandelow, B; Krakowitzky, P; Rothermundt, M; Arolt, V; Deckert, J Association analysis of Rgs7 variants with panic disorder.
J Neural Transm. 2009; 116(11): 1523-1528. Doi: 10.1007/s00702-008-0097-5
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Lange, U; Teichmann, J; Obermayer-Pietsch, B Genetic aspects of osteopenia/osteoporosis in ankylosing spondylitis.
Z Orthop Unfall. 2009; 147(5): 577-581. Doi: 10.1055/s-0029-1185711
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Noor, A; Windpassinger, C; Vitcu, I; Orlic, M; Arshad Rafiq, M; Khalid, M; Nasir Malik, M; Ayub, M; Alman, B; Vincent, JB Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.
Am J Hum Genet. 2009; 84(4): 519-523. Doi: 10.1016/j.ajhg.2009.03.007 [OPEN ACCESS]
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2008

Auer-Grumbach, M; Fischer, C; Papić, L; John, E; Plecko, B; Bittner, RE; Bernert, G; Pieber, TR; Miltenberger, G; Schwarz, R; Windpassinger, C; Grill, F; Timmerman, V; Speicher, MR; Janecke, AR Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Neuropediatrics. 2008; 39(1):33-38 Doi: 10.1055/s-2008-1077085 [OPEN ACCESS]
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Dacic, S; Kothmaier, H; Land, S; Shuai, Y; Halbwedl, I; Morbini, P; Murer, B; Comin, C; Galateau-Salle, F; Demirag, F; Zeren, H; Attanoos, R; Gibbs, A; Cagle, P; Popper, H Prognostic significance of p16/cdkn2a loss in pleural malignant mesotheliomas.
Virchows Arch. 2008; 453(6): 627-635. Doi: 10.1007/s00428-008-0689-3
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Noor, A; Windpassinger, C; Patel, M; Stachowiak, B; Mikhailov, A; Azam, M; Irfan, M; Siddiqui, ZK; Naeem, F; Paterson, AD; Lutfullah, M; Vincent, JB; Ayub, M CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
Am J Hum Genet. 2008; 82(4):1011-1018 Doi: 10.1016/j.ajhg.2008.01.021 [OPEN ACCESS]
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2006

Bloethner, S; Hemminki, K; Thirumaran, RK; Chen, B; Mueller-Berghaus, J; Ugurel, S; Schadendorf, D; Kumar, R Differences in global gene expression in melanoma cell lines with and without homozygous deletion of the CDKN2A locus genes.
Melanoma Res. 2006; 16(4):297-307 Doi: 10.1097/01.cmr.0000222597.50309.05
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Mills, PB; Struys, E; Jakobs, C; Plecko, B; Baxter, P; Baumgartner, M; Willemsen, MA; Omran, H; Tacke, U; Uhlenberg, B; Weschke, B; Clayton, PT Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
Nat Med. 2006; 12(3):307-309 Doi: 10.1038/nm1366
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Warnatz, K; Bossaller, L; Salzer, U; Skrabl-Baumgartner, A; Schwinger, W; van der Burg, M; van Dongen, JJ; Orlowska-Volk, M; Knoth, R; Durandy, A; Draeger, R; Schlesier, M; Peter, HH; Grimbacher, B Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency.
BLOOD. 2006; 107(8): 3045-3052. Doi: 10.1182/blood-2005-07-2955 [OPEN ACCESS]
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2005

Renner, W; Nauck, M; Winkelmann, BR; Hoffmann, MM; Scharnagl, H; Mayer, V; Boehm, BO; März, W; LURIC Study team Association of angiotensinogen haplotypes with angiotensinogen levels but not with blood pressure or coronary artery disease: the Ludwigshafen Risk and Cardiovascular Health Study.
J Mol Med (Berl). 2005; 83(3):235-239 Doi: 10.1007/s00109-004-0618-0
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Schallmoser, K; Rosin, C; Knittelfelder, R; Sailer, T; Ulrich, S; Zoghlami, C; Lehr, S; Pabinger, I; Panzer, S The Fc gammaRIIa polymorphism R/H131, autoantibodies against the platelet receptors GPIb alpha and Fc gammaRIIa and a risk for thromboembolism in lupus anticoagulant patients.
Thromb Haemost. 2005; 93(3):544-548 Doi: 10.1267/THRO05030544
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2004

Delague, V; Kriegshäuser, G; Oberkanins, C; Mégarbané, A Reverse hybridization vs. DNA sequencing in the molecular diagnosis of Familial Mediterranean fever.
Genet Test. 2004; 8(1): 65-68. Doi: 10.1089/109065704323016049
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2002

Inoue, A; Seidel, MG; Wu, W; Kamizono, S; Ferrando, AA; Bronson, RT; Iwasaki, H; Akashi, K; Morimoto, A; Hitzler, JK; Pestina, TI; Jackson, CW; Tanaka, R; Chong, MJ; McKinnon, PJ; Inukai, T; Grosveld, GC; Look, AT Slug, a highly conserved zinc finger transcriptional repressor, protects hematopoietic progenitor cells from radiation-induced apoptosis in vivo.
Cancer Cell. 2002; 2(4):279-288 Doi: 10.1016/S1535-6108(02)00155-1 [OPEN ACCESS]
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2000

Meixner, A; Haverkamp, S; Wässle, H; Führer, S; Thalhammer, J; Kropf, N; Bittner, RE; Lassmann, H; Wiche, G; Propst, F MAP1B is required for axon guidance and Is involved in the development of the central and peripheral nervous system.
J Cell Biol. 2000; 151(6):1169-1178 Doi: 10.1083/jcb.151.6.1169 [OPEN ACCESS]
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Pertl, B; Pieber, D; Panzitt, T; Haeusler, MC; Winter, R; Tului, L; Brambati, B; Adinolfi, M RhD genotyping by quantitative fluorescent polymerase chain reaction: a new approach.
BJOG. 2000; 107(12):1498-1502 Doi: 10.1111/j.1471-0528.2000.tb11674.x [OPEN ACCESS]
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Schaefer, JR; Winkler, K; Schweer, H; Hoffmann, MM; Soufi, M; Scharnagl, H; Maisch, B; Wieland, H; Steinmetz, A; März, W Increased production of HDL ApoA-I in homozygous familial defective ApoB-100.
Arterioscler Thromb Vasc Biol. 2000; 20(7):1796-1799 Doi: 10.1161/01.ATV.20.7.1796 [OPEN ACCESS]
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1999

Halbmayer, WM; Kalhs, T; Haushofer, A; Breier, F; Fischer, M Venous thromboembolism at a young age in a brother and sister with coinheritance of homozygous 20210A/A prothrombin mutation and heterozygous 1691G/A factor V Leiden mutation.
Blood Coagul Fibrinolysis. 1999; 10(5):297-302 Doi: 10.1097/00001721-199907000-00012 (- Case Report)
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Pertl, B; Pieber, D; Lercher-Hartlieb, A; Orescovic, I; Haeusler, M; Winter, R; Kroisel, P; Adinolfi, M Rapid prenatal diagnosis of aneuploidy by quantitative fluorescent PCR on fetal samples from mothers at high risk for chromosome disorders.
Mol Hum Reprod. 1999; 5(12):1176-1179 Doi: 10.1093/molehr/5.12.1176 [OPEN ACCESS]
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Schuelke, M; Smeitink, J; Mariman, E; Loeffen, J; Plecko, B; Trijbels, F; Stöckler-Ipsiroglu, S; van den Heuvel, L Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
Nat Genet. 1999; 21(3):260-261 Doi: 10.1038/6772 (- Case Report)
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1993

März, W; Baumstark, MW; Scharnagl, H; Ruzicka, V; Buxbaum, S; Herwig, J; Pohl, T; Russ, A; Schaaf, L; Berg, A Accumulation of "small dense" low density lipoproteins (LDL) in a homozygous patients with familial defective apolipoprotein B-100 results from heterogenous interaction of LDL subfractions with the LDL receptor.
J Clin Invest. 1993; 92(6):2922-2933 Doi: 10.1172/JCI116915 (- Case Report) [OPEN ACCESS]
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