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

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Publikationen

Suchbegriffe: HETEROZYGOTE - , . Treffer: 58

2017

Wolf, A; Frohne, A; Allen, M; Parzefall, T; Koenighofer, M; Schreiner, MM; Schoefer, C; Frei, K; Lucas, T A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment.
Otol Neurotol. 2017; 38(2):173-179
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2016

Auer-Grumbach, M; Toegel, S; Schabhüttl, M; Weinmann, D; Chiari, C; Bennett, DLH; Beetz, C; Klein, D; Andersen, PM; Böhme, I; Fink-Puches, R; Gonzalez, M; Harms, MB; Motley, W; Reilly, MM; Renner, W; Rudnik-Schöneborn, S; Schlotter-Weigel, B; Themistocleous, AC; Weishaupt, JH; Ludolph, AC; Wieland, T; Tao, F; Abreu, L; Windhager, R; Zitzelsberger, M; Strom, TM; Walther, T; Scherer, SS; Züchner, S; Martini, R; Senderek, J Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Am J Hum Genet. 2016; 99(3):607-623 [OPEN ACCESS]
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Beheshtian, M; Izadi, N; Kriegshauser, G; Kahrizi, K; Mehr, EP; Rostami, M; Hosseini, M; Azad, M; Montajabiniat, M; Kariminejad, A; Nemeth, S; Oberkanins, C; Najmabadi, H Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.
J Genet. 2016; 95(3):667-674 [OPEN ACCESS]
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Polin, H; Pelc-Klopotowska, M; Danzer, M; Suessner, S; Gabriel, C; Wilflingseder, J; Żmudzin, A; Orzińska, A; Guz, K; Michalewska, B; Brojer, E Compound heterozygosity of two novel RHAG alleles leads to a considerable disruption of the Rh complex.
Transfusion. 2016; 56(4):950-955 (- Case Report)
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Tatlisumak, T; Putaala, J; Innilä, M; Enzinger, C; Metso, TM; Curtze, S; von Sarnowski, B; Amaral-Silva, A; Jungehulsing, GJ; Tanislav, C; Thijs, V; Rolfs, A; Norrving, B; Fazekas, F; Suomalainen, A; Kolodny, EH Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population.
J Neurol. 2016; 263(2):257-262 [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
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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
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Do, R; Stitziel, NO; Won, HH; Jørgensen, AB; Duga, S; Angelica Merlini, P; Kiezun, A; Farrall, M; Goel, A; Zuk, O; Guella, I; Asselta, R; Lange, LA; Peloso, GM; Auer, PL; NHLBI Exome Sequencing Project; Girelli, D; Martinelli, N; Farlow, DN; DePristo, MA; Roberts, R; Stewart, AF; Saleheen, D; Danesh, J; Epstein, SE; Sivapalaratnam, S; Hovingh, GK; Kastelein, JJ; Samani, NJ; Schunkert, H; Erdmann, J; Shah, SH; Kraus, WE; Davies, R; Nikpay, M; Johansen, CT; Wang, J; Hegele, RA; Hechter, E; Marz, W; Kleber, ME; Huang, J; Johnson, AD; Li, M; Burke, GL; Gross, M; Liu, Y; Assimes, TL; Heiss, G; Lange, EM; Folsom, AR; Taylor, HA; Olivieri, O; Hamsten, A; Clarke, R; Reilly, DF; Yin, W; Rivas, MA; Donnelly, P; Rossouw, JE; Psaty, BM; Herrington, DM; Wilson, JG; Rich, SS; Bamshad, MJ; Tracy, RP; Cupples, LA; Rader, DJ; Reilly, MP; Spertus, JA; Cresci, S; Hartiala, J; Tang, WH; Hazen, SL; Allayee, H; Reiner, AP; Carlson, CS; Kooperberg, C; Jackson, RD; Boerwinkle, E; Lander, ES; Schwartz, SM; Siscovick, DS; McPherson, R; Tybjaerg-Hansen, A; Abecasis, GR; Watkins, H; Nickerson, DA; Ardissino, D; Sunyaev, SR; O'Donnell, CJ; Altshuler, D; Gabriel, S; Kathiresan, S Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
NATURE. 2015; 518(7537): 102-106. [OPEN ACCESS]
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Kassner, U; Salewsky, B; Wühle-Demuth, M; Szijarto, IA; Grenkowitz, T; Binner, P; März, W; Steinhagen-Thiessen, E; Demuth, I Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants.
Eur J Hum Genet. 2015; 23(9):1259-1261 (- Case Report) [OPEN ACCESS]
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Mangge, H; Baumgartner, BG; Zelzer, S; Prüller, F; Schnedl, WJ; Reininghaus, EZ; Haybaeck, J; Lackner, C; Stauber, R; Aigner, E; Weghuber, D Patatin-like phospholipase 3 (rs738409) gene polymorphism is associated with increased liver enzymes in obese adolescents and metabolic syndrome in all ages.
Aliment Pharmacol Ther. 2015; 42(1):99-105 [OPEN ACCESS]
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Sadowski, CE; Lovric, S; Ashraf, S; Pabst, WL; Gee, HY; Kohl, S; Engelmann, S; Vega-Warner, V; Fang, H; Halbritter, J; Somers, MJ; Tan, W; Shril, S; Fessi, I; Lifton, RP; Bockenhauer, D; El-Desoky, S; Kari, JA; Zenker, M; Kemper, MJ; Mueller, D; Fathy, HM; Soliman, NA; SRNS Study Group; Hildebrandt, F A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
J Am Soc Nephrol. 2015; 26(6): 1279-1289. [OPEN ACCESS]
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2014

Basmanav, FB; Oprisoreanu, AM; Pasternack, SM; Thiele, H; Fritz, G; Wenzel, J; Größer, L; Wehner, M; Wolf, S; Fagerberg, C; Bygum, A; Altmüller, J; Rütten, A; Parmentier, L; El Shabrawi-Caelen, L; Hafner, C; Nürnberg, P; Kruse, R; Schoch, S; Hanneken, S; Betz, RC Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
Am J Hum Genet. 2014; 94(1):135-143 [OPEN ACCESS]
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Langsenlehner, T; Thurner, EM; Renner, W; Gerger, A; Kapp, KS; Langsenlehner, U Association of genetic variants in VEGF-A with clinical recurrence in prostate cancer patients treated with definitive radiotherapy.
Strahlenther Onkol. 2014; 190(4):364-369
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Pagava, K; Rauscher, B; Korinteli, IA; Shonvadze, D; Kriegshauser, G; Oberkanins, Ch Familial Mediterranean fever in Georgia.
Georgian Med News. 2014; 95(230): 79-82.
PubMed

 

2013

Hubers, AA; van Duijn, E; Roos, RA; Craufurd, D; Rickards, H; Bernhard Landwehrmeyer, G; van der Mast, RC; Giltay, EJ; REGISTRY investigators of the European Huntington's Disease Network Suicidal ideation in a European Huntington's disease population.
J Affect Disord. 2013; 151(1):248-258 [OPEN ACCESS]
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Marzioni, M; Saccomanno, S; Agostinelli, L; Rychlicki, C; De Minicis, S; Pierantonelli, I; Trauner, M; Fickert, P; Müller, T; Shanmukhappa, K; Trozzi, L; Candelaresi, C; Baroni, GS; Benedetti, A PDX-1/Hes-1 interactions determine cholangiocyte proliferative response to injury in rodents: possible implications for sclerosing cholangitis.
J Hepatol. 2013; 58(4):750-756
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Prüller, F; Raggam, RB; Mangge, H; Truschnig-Wilders, M; Matzhold, EM; Weiss, EC; Hasiba, B; Summers, KL; Renner, W; Siegert, G; Kostka, H A novel factor V mutation causes a normal activated protein C ratio despite the presence of a heterozygous F5 R506Q (factor V Leiden) mutation.
Br J Haematol. 2013; 163(3):414-417 [OPEN ACCESS]
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Tea, MK; Weghofer, A; Wagner, K; Singer, CF Association of BRCA1/2 mutations with FMR1 genotypes: effects on menarcheal and menopausal age.
Maturitas. 2013; 75(2):148-151
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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 [OPEN ACCESS]
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2012

Binder, JS; Weidemann, F; Schoser, B; Niemann, M; Machann, W; Beer, M; Plank, G; Schmidt, A; Bisping, E; Poparic, I; Lafer, I; Stojakovic, T; Quasthoff, S; Vincent, JB; Rienmueller, R; Speicher, MR; Berghold, A; Pieske, B; Windpassinger, C Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.
Circ Cardiovasc Genet. 2012; 5(5):490-502 [OPEN ACCESS]
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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 [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 [OPEN ACCESS]
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Schulz, E; Valentin, A; Ulz, P; Beham-Schmid, C; Lind, K; Rupp, V; Lackner, H; Wölfler, A; Zebisch, A; Olipitz, W; Geigl, J; Berghold, A; Speicher, MR; Sill, H Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms.
J Med Genet. 2012; 49(7):422-428
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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
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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 [OPEN ACCESS]
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Wiesner, T; Fried, I; Ulz, P; Stacher, E; Popper, H; Murali, R; Kutzner, H; Lax, S; Smolle-Jüttner, F; Geigl, JB; Speicher, MR Toward an improved definition of the tumor spectrum associated with BAP1 germline mutations.
J Clin Oncol. 2012; 30(32):e337-e340 (- Case Report) [OPEN ACCESS]
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2011

Al Kaissi, A; M Roetzer, K; Ulz, P; Heitzer, E; Klaushofer, K; Grill, F Extra phenotypic features in a girl with Miller syndrome.
Clin Dysmorphol. 2011; 20(2): 66-72.
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Fong, CY; Rolfs, A; Schwarzbraun, T; Klein, C; O'Callaghan, FJ Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation.
Eur J Paediatr Neurol. 2011; 15(3):271-275 (- Case Report)
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Hurst, JA; Jenkins, D; Vasudevan, PC; Kirchhoff, M; Skovby, F; Rieubland, C; Gallati, S; Rittinger, O; Kroisel, PM; Johnson, D; Biesecker, LG; Wilkie, AO Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
Eur J Hum Genet. 2011; 19(7): 757-762. [OPEN ACCESS]
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Jacquemont, S; Reymond, A; Zufferey, F; Harewood, L; Walters, RG; Kutalik, Z; Martinet, D; Shen, Y; Valsesia, A; Beckmann, ND; Thorleifsson, G; Belfiore, M; Bouquillon, S; Campion, D; de Leeuw, N; de Vries, BB; Esko, T; Fernandez, BA; Fernández-Aranda, F; Fernández-Real, JM; Gratacòs, M; Guilmatre, A; Hoyer, J; Jarvelin, MR; Kooy, RF; Kurg, A; Le Caignec, C; Männik, K; Platt, OS; Sanlaville, D; Van Haelst, MM; Villatoro Gomez, S; Walha, F; Wu, BL; Yu, Y; Aboura, A; Addor, MC; Alembik, Y; Antonarakis, SE; Arveiler, B; Barth, M; Bednarek, N; Béna, F; Bergmann, S; Beri, M; Bernardini, L; Blaumeiser, B; Bonneau, D; Bottani, A; Boute, O; Brunner, HG; Cailley, D; Callier, P; Chiesa, J; Chrast, J; Coin, L; Coutton, C; Cuisset, JM; Cuvellier, JC; David, A; de Freminville, B; Delobel, B; Delrue, MA; Demeer, B; Descamps, D; Didelot, G; Dieterich, K; Disciglio, V; Doco-Fenzy, M; Drunat, S; Duban-Bedu, B; Dubourg, C; El-Sayed Moustafa, JS; Elliott, P; Faas, BH; Faivre, L; Faudet, A; Fellmann, F; Ferrarini, A; Fisher, R; Flori, E; Forer, L; Gaillard, D; Gerard, M; Gieger, C; Gimelli, S; Gimelli, G; Grabe, HJ; Guichet, A; Guillin, O; Hartikainen, AL; Heron, D; Hippolyte, L; Holder, M; Homuth, G; Isidor, B; Jaillard, S; Jaros, Z; Jiménez-Murcia, S; Helas, GJ; Jonveaux, P; Kaksonen, S; Keren, B; Kloss-Brandstätter, A; Knoers, NV; Koolen, DA; Kroisel, PM; Kronenberg, F; Labalme, A; Landais, E; Lapi, E; Layet, V; Legallic, S; Leheup, B; Leube, B; Lewis, S; Lucas, J; MacDermot, KD; Magnusson, P; Marshall, C; Mathieu-Dramard, M; McCarthy, MI; Meitinger, T; Mencarelli, MA; Merla, G; Moerman, A; Mooser, V; Morice-Picard, F; Mucciolo, M; Nauck, M; Ndiaye, NC; Nordgren, A; Pasquier, L; Petit, F; Pfundt, R; Plessis, G; Rajcan-Separovic, E; Ramelli, GP; Rauch, A; Ravazzolo, R; Reis, A; Renieri, A; Richart, C; Ried, JS; Rieubland, C; Roberts, W; Roetzer, KM; Rooryck, C; Rossi, M; Saemundsen, E; Satre, V; Schurmann, C; Sigurdsson, E; Stavropoulos, DJ; Stefansson, H; Tengström, C; Thorsteinsdóttir, U; Tinahones, FJ; Touraine, R; Vallée, L; van Binsbergen, E; Van der Aa, N; Vincent-Delorme, C; Visvikis-Siest, S; Vollenweider, P; Völzke, H; Vulto-van Silfhout, AT; Waeber, G; Wallgren-Pettersson, C; Witwicki, RM; Zwolinksi, S; Andrieux, J; Estivill, X; Gusella, JF; Gustafsson, O; Metspalu, A; Scherer, SW; Stefansson, K; Blakemore, AI; Beckmann, JS; Froguel, P Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Nature. 2011; 478(7367):97-102 [OPEN ACCESS]
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2010

Roetzer, KM; Schwarzbraun, T; Obenauf, AC; Hauser, E; Speicher, MR Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions.
Am J Med Genet A. 2010; 152A(12):3173-3178 (- Case Report)
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Yu-Wai-Man, P; Griffiths, PG; Gorman, GS; Lourenco, CM; Wright, AF; Auer-Grumbach, M; Toscano, A; Musumeci, O; Valentino, ML; Caporali, L; Lamperti, C; Tallaksen, CM; Duffey, P; Miller, J; Whittaker, RG; Baker, MR; Jackson, MJ; Clarke, MP; Dhillon, B; Czermin, B; Stewart, JD; Hudson, G; Reynier, P; Bonneau, D; Marques, W; Lenaers, G; McFarland, R; Taylor, RW; Turnbull, DM; Votruba, M; Zeviani, M; Carelli, V; Bindoff, LA; Horvath, R; Amati-Bonneau, P; Chinnery, PF Multi-system neurological disease is common in patients with OPA1 mutations.
Brain. 2010; 133(Pt 3): 771-786. [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.
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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 [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.
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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. [OPEN ACCESS]
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2008

Kroiss, R; Winkler, V; Kalteis, K; Bikas, D; Rudas, M; Tea, M; Fuerhauser, C; Muhr, D; Cerny, H; Glueck, S; Petru, E; Concin, H; Kubista, E; Oefner, P; Wagner, T Prevalence of pre-malignant and malignant lesions in prophylactic mastectomy specimens of BRCA1 mutation carriers: comparison with a control group.
J Cancer Res Clin Oncol. 2008; 134(10):1113-1121
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Ralmer, N; Hoefler, G; Hogenauer, C; Lackner, C; Steinke, V; Sengteller, M; Friedl, W; Aretz, S; Propping, P; Mangold, E; Walldorf, C Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.
AM J MED GENET PART A. 2008; 146A(10): 1314-1319. (- Case Report)
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Thomas, S; Proudlock, FA; Sarvananthan, N; Roberts, EO; Awan, M; McLean, R; Surendran, M; Kumar, ASA; Farooq, SJ; Degg, C; Gale, RP; Reinecke, RD; Woodruff, G; Langmann, A; Lindner, S; Jain, S; Tarpey, P; Raymond, FL; Gottlob, I Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.
Brain. 2008; 131(Pt 5):1259-1267 [OPEN ACCESS]
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2007

Eller, P; Kaser, S; Lhotta, K; Edghill, EL; Ellard, S; Ebenbichler, C; Patsch, JR Renal cysts and diabetes due to a heterozygous HNF-1beta gene deletion.
Nephrol Dial Transplant. 2007; 22(4):1271-1272 (- Case Report) [OPEN ACCESS]
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Weger, M; Steinbrugger, I; El-Shabrawi, Y; Wegscheider, BJ; Weger, W; Renner, W; Schmut, O; Haas, A Haplotype-tagging interleukin-10 promoter polymorphism is associated with reduced risk of retinal artery occlusion.
Mol Vis. 2007; 13(7): 549-552. [OPEN ACCESS]
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2006

Hörl, G; Kroisel, PM; Wagner, E; Tiran, B; Petek, E; Steyrer, E Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.
Atherosclerosis. 2006; 187(1): 101-109.
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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
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2005

Cauza, E; Hanusch-Enserer, U; Bischof, M; Spak, M; Kostner, K; Tammaa, A; Dunky, A; Ferenci, P Increased C282Y heterozygosity in gestational diabetes.
Fetal Diagn Ther. 2005; 20(5):349-354
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Item, CB; Turhani, D; Thurnher, D; Yerit, K; Sinko, K; Wittwer, G; Adeyemo, WL; Frei, K; Erginel-Unaltuna, N; Watzinger, F; Ewers, R Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family.
Int J Mol Med. 2005; 15(2):247-251 (- Case Report)
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Kroiss, R; Winkler, V; Bikas, D; Fleischmann, E; Mainau, C; Frommlet, F; Muhr, D; Fuerhauser, C; Tea, M; Bittner, B; Kubista, E; Oefner, PJ; Bauer, P; Wagner, TM; Austrian Hereditary Breast and Ovarian Cancer Group Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers.
Hum Mutat. 2005; 26(6): 583-589.
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Meshkov, AN; Stambol'skiĭ, DV; Nikitina, LA; Abdullaev, SM; Bochkov, VN; Tkachuk, VA; Kukharchuk, VV; Malyshev, PP Genetic factors of risk of ischemic heart disease development in patients with familial hypercholesterolemia].
Kardiologiia. 2005; 45(7):10-14
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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
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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.
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2002

Reissinger, A; Ludwig, M; Utsch, B; Prömse, A; Baulmann, J; Weisser, B; Vetter, H; Kramer, HJ; Bokemeyer, D Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.
Kidney Blood Press Res. 2002; 25(6):354-362 (- Case Report)
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