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Search Items: PHENOTYPIC, . hits: 264

2020

Borek, I; Köffel, R; Feichtinger, J; Spies, M; Glitzner-Zeis, E; Hochgerner, M; Sconocchia, T; Krump, C; Tam-Amersdorfer, C; Passegger, C; Benezeder, T; Tittes, J; Redl, A; Painsi, C; Thallinger, GG; Wolf, P; Stary, G; Sibilia, M; Strobl, H BMP7 aberrantly induced in the psoriatic epidermis instructs inflammation-associated Langerhans cells.
J Allergy Clin Immunol. 2020; 145(4):1194-1207
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Chan, AY; Leiding, JW; Liu, X; Logan, BR; Burroughs, LM; Allenspach, EJ; Skoda-Smith, S; Uzel, G; Notarangelo, LD; Slatter, M; Gennery, AR; Smith, AR; Pai, SY; Jordan, MB; Marsh, RA; Cowan, MJ; Dvorak, CC; Craddock, JA; Prockop, SE; Chandrakasan, S; Kapoor, N; Buckley, RH; Parikh, S; Chellapandian, D; Oshrine, BR; Bednarski, JJ; Cooper, MA; Shenoy, S; Davila Saldana, BJ; Forbes, LR; Martinez, C; Haddad, E; Shyr, DC; Chen, K; Sullivan, KE; Heimall, J; Wright, N; Bhatia, M; Cuvelier, GDE; Goldman, FD; Meyts, I; Miller, HK; Seidel, MG; Vander Lugt, MT; Bacchetta, R; Weinacht, KG; Andolina, JR; Caywood, E; Chong, H; de la Morena, MT; Aquino, VM; Shereck, E; Walter, JE; Dorsey, MJ; Seroogy, CM; Griffith, LM; Kohn, DB; Puck, JM; Pulsipher, MA; Torgerson, TR Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.
Front Immunol. 2020; 11: 239-239. [OPEN ACCESS]
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Ferretti, MT; Martinkova, J; Biskup, E; Benke, T; Gialdini, G; Nedelska, Z; Rauen, K; Mantua, V; Religa, D; Hort, J; Santuccione Chadha, A; Schmidt, R Sex and gender differences in Alzheimer's disease: current challenges and implications for clinical practice.
Eur J Neurol. 2020;
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Giese, AK; Schirmer, MD; Dalca, AV; Sridharan, R; Donahue, KL; Nardin, M; Irie, R; McIntosh, EC; Mocking, SJT; Xu, H; Cole, JW; Giralt-Steinhauer, E; Jimenez-Conde, J; Jern, C; Kleindorfer, DO; Lemmens, R; Wasselius, J; Lindgren, A; Rundek, T; Sacco, RL; Schmidt, R; Sharma, P; Slowik, A; Thijs, V; Worrall, BB; Woo, D; Kittner, SJ; McArdle, PF; Mitchell, BD; Rosand, J; Meschia, JF; Wu, O; Golland, P; Rost, NS; International Stroke Genetics Consortium and the MRI-GENIE Investigators White matter hyperintensity burden in acute stroke patients differs by ischemic stroke subtype.
Neurology. 2020; 95(1):e79-e88-e79-e88 [OPEN ACCESS]
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Schliefsteiner, C; Ibesich, S; Wadsack, C Placental Hofbauer Cell Polarization Resists Inflammatory Cues In Vitro.
Int J Mol Sci. 2020; 21(3): [OPEN ACCESS]
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Schnieder, J; Mamazhakypov, A; Birnhuber, A; Wilhelm, J; Kwapiszewska, G; Ruppert, C; Markart, P; Wujak, L; Rubio, K; Barreto, G; Schaefer, L; Wygrecka, M Loss of LRP1 promotes acquisition of contractile-myofibroblast phenotype and release of active TGF-β1 from ECM stores.
Matrix Biol. 2020; 88:69-88
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Thaventhiran, JED; Lango Allen, H; Burren, OS; Rae, W; Greene, D; Staples, E; Zhang, Z; Farmery, JHR; Simeoni, I; Rivers, E; Maimaris, J; Penkett, CJ; Stephens, J; Deevi, SVV; Sanchis-Juan, A; Gleadall, NS; Thomas, MJ; Sargur, RB; Gordins, P; Baxendale, HE; Brown, M; Tuijnenburg, P; Worth, A; Hanson, S; Linger, RJ; Buckland, MS; Rayner-Matthews, PJ; Gilmour, KC; Samarghitean, C; Seneviratne, SL; Sansom, DM; Lynch, AG; Megy, K; Ellinghaus, E; Ellinghaus, D; Jorgensen, SF; Karlsen, TH; Stirrups, KE; Cutler, AJ; Kumararatne, DS; Chandra, A; Edgar, JDM; Herwadkar, A; Cooper, N; Grigoriadou, S; Huissoon, AP; Goddard, S; Jolles, S; Schuetz, C; Boschann, F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons, PA; Hurles, ME; Savic, S; Burns, SO; Kuijpers, TW; Turro, E; Ouwehand, WH; Thrasher, AJ; Smith, KGC Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature. 2020; 583(7814): 90-95. [OPEN ACCESS]
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2019

Begemann, A; Acuña, MA; Zweier, M; Vincent, M; Steindl, K; Bachmann-Gagescu, R; Hackenberg, A; Abela, L; Plecko, B; Kroell-Seger, J; Baumer, A; Yamakawa, K; Inoue, Y; Asadollahi, R; Sticht, H; Zeilhofer, HU; Rauch, A Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
MOL MED. 2019; 25(1): 6-6. [OPEN ACCESS]
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Budde, M; Anderson-Schmidt, H; Gade, K; Reich-Erkelenz, D; Adorjan, K; Kalman, JL; Senner, F; Papiol, S; Andlauer, TFM; Comes, AL; Schulte, EC; Klöhn-Saghatolislam, F; Gryaznova, A; Hake, M; Bartholdi, K; Flatau, L; Reitt, M; Quast, S; Stegmaier, S; Meyers, M; Emons, B; Haußleiter, IS; Juckel, G; Nieratschker, V; Dannlowski, U; Schaupp, SK; Schmauß, M; Zimmermann, J; Reimer, J; Schulz, S; Wiltfang, J; Reininghaus, E; Anghelescu, IG; Arolt, V; Baune, BT; Konrad, C; Thiel, A; Fallgatter, AJ; Figge, C; von Hagen, M; Koller, M; Lang, FU; Wigand, ME; Becker, T; Jäger, M; Dietrich, DE; Stierl, S; Scherk, H; Spitzer, C; Folkerts, H; Witt, SH; Degenhardt, F; Forstner, AJ; Rietschel, M; Nöthen, MM; Falkai, P; Schulze, TG; Heilbronner, U A longitudinal approach to biological psychiatric research: The PsyCourse study.
Am J Med Genet B Neuropsychiatr Genet. 2019; 180(2):89-102 [OPEN ACCESS]
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de Vries, PS; Sabater-Lleal, M; Huffman, JE; Marten, J; Song, C; Pankratz, N; Bartz, TM; de Haan, HG; Delgado, GE; Eicher, JD; Martinez-Perez, A; Ward-Caviness, CK; Brody, JA; Chen, MH; de Maat, MPM; Frånberg, M; Gill, D; Kleber, ME; Rivadeneira, F; Soria, JM; Tang, W; Tofler, GH; Uitterlinden, AG; van Hylckama Vlieg, A; Seshadri, S; Boerwinkle, E; Davies, NM; Giese, AK; Ikram, MK; Kittner, SJ; McKnight, B; Psaty, BM; Reiner, AP; Sargurupremraj, M; Taylor, KD; INVENT Consortium; MEGASTROKE Consortium of the International Stroke Genetics Consortium; Fornage, M; Hamsten, A; März, W; Rosendaal, FR; Souto, JC; Dehghan, A; Johnson, AD; Morrison, AC; O'Donnell, CJ; Smith, NL A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology.
BLOOD. 2019; 133(9): 967-977. [OPEN ACCESS]
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Ferenci, P; Stremmel, W; Członkowska, A; Szalay, F; Viveiros, A; Stättermayer, AF; Bruha, R; Houwen, R; Pop, TL; Stauber, R; Gschwantler, M; Pfeiffenberger, J; Yurdaydin, C; Aigner, E; Steindl-Munda, P; Dienes, HP; Zoller, H; Weiss, KH Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.
Hepatology. 2019; 69(4):1464-1476 [OPEN ACCESS]
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Frontera, A; Vlachos, K; Kitamura, T; Mahida, S; Pillois, X; Fahy, G; Marquie, C; Cappato, R; Stuart, G; Defaye, P; Kaski, JP; Ector, J; Maltret, A; Scanu, P; Pasquie, JL; Deisenhofer, I; Blankoff, I; Scherr, D; Manninger, M; Aizawa, Y; Koutbi, L; Denis, A; Pambrun, T; Ritter, P; Sacher, F; Hocini, M; Maury, P; Jaïs, P; Bordachar, P; Haïssaguerre, M; Derval, N Long-Term Follow-Up of Idiopathic Ventricular Fibrillation in a Pediatric Population: Clinical Characteristics, Management, and Complications.
J Am Heart Assoc. 2019; 8(9): e011172-e011172. [OPEN ACCESS]
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Geissler, K; Jäger, E; Barna, A; Gurbisz, M; Marschon, R; Graf, T; Graf, E; Borjan, B; Jilch, R; Geissler, C; Hoermann, G; Esterbauer, H; Schwarzinger, I; Nösslinger, T; Pfeilstöcker, M; Tüchler, H; Reisner, R; Sliwa, T; Keil, F; Bettelheim, P; Machherndl-Spandl, S; Doleschal, B; Zach, O; Weltermann, A; Heibl, S; Thaler, J; Zebisch, A; Sill, H; Stauder, R; Webersinke, G; Petzer, A; Kusec, R; Ulsperger, E; Schneeweiss, B; Berger, J; Öhler, L; Germing, U; Sperr, WR; Knöbl, P; Jäger, U; Valent, P The Austrian biodatabase for chronic myelomonocytic leukemia (ABCMML) : A representative and useful real-life data source for further biomedical research.
Wien Klin Wochenschr. 2019; 131(17-18):410-418 [OPEN ACCESS]
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Müller, C; Wendt, J; Rauscher, S; Sunder-Plassmann, R; Richtig, E; Fae, I; Fischer, G; Okamoto, I Risk Factors of Subsequent Primary Melanomas in Austria.
JAMA Dermatol. 2019; 155(2):188-195 [OPEN ACCESS]
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Muzammal, M; Zubair, M; Bierbaumer, S; Blatterer, J; Graf, R; Gul, A; Abbas, S; Badar, M; Abbasi, AA; Khan, MA; Windpassinger, C Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.
MOL GENET GENOM MED. 2019; 7(8): e834-e834. [OPEN ACCESS]
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Pfeifer, B; Kapan, DD Estimates of introgression as a function of pairwise distances.
BMC BIOINFORMATICS. 2019; 20(1): 207-207. [OPEN ACCESS]
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Preising, MN; Schneider, U; Friedburg, C; Gruber, H; Lindner, S; Lorenz, B [The Phenotypic Spectrum of Ophthalmic Changes in CEP290 Mutations].
KLIN MONATSBL AUGENH. 2019; 236(3): 244-252.
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Rath, M; Spiegler, S; Strom, TM; Trenkler, J; Kroisel, PM; Felbor, U Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.
Am J Med Genet A. 2019; 179(2): 295-299. (- Case Report) [OPEN ACCESS]
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Rattay, TW; Lindig, T; Baets, J; Smets, K; Deconinck, T; Söhn, AS; Hörtnagel, K; Eckstein, KN; Wiethoff, S; Reichbauer, J; Döbler-Neumann, M; Krägeloh-Mann, I; Auer-Grumbach, M; Plecko, B; Münchau, A; Wilken, B; Janauschek, M; Giese, AK; De Bleecker, JL; Ortibus, E; Debyser, M; Lopez de Munain, A; Pujol, A; Bassi, MT; D'Angelo, MG; De Jonghe, P; Züchner, S; Bauer, P; Schöls, L; Schüle, R FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Brain. 2019; 142(6): 1561-1572. [OPEN ACCESS]
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Scott, J; Etain, B; Manchia, M; Brichant-Petitjean, C; Geoffroy, P; Schulze, T; Alda, M; Bellivier, F; ConLiGen collaborators An examination of the quality and performance of the Alda scale for classifying lithium response phenotypes.
Bipolar Disord. 2019;
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Shamloo, B; Usluer, S p21 in Cancer Research.
CANCERS. 2019; 11(8): [OPEN ACCESS]
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Tomić Paradžik, M; Drenjančević, D; Presečki-Stanko, A; Kopić, J; Talapko, J; Zarfel, G; Bedenić, B Hidden Carbapenem Resistance in OXA-48 and Extended-Spectrum β-Lactamase-Positive Escherichia coli.
Microb Drug Resist. 2019; 25(5):696-702
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Vorkapic, D; Mitterer, F; Pressler, K; Leitner, DR; Anonsen, JH; Liesinger, L; Mauerhofer, LM; Kuehnast, T; Toeglhofer, M; Schulze, A; Zingl, FG; Feldman, MF; Reidl, J; Birner-Gruenberger, R; Koomey, M; Schild, S A Broad Spectrum Protein Glycosylation System Influences Type II Protein Secretion and Associated Phenotypes in Vibrio cholerae.
Front Microbiol. 2019; 10: 2780-2780. [OPEN ACCESS]
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2018

Bhutada, G; Kavšček, M; Hofer, F; Gogg-Fassolter, G; Schweiger, M; Darnhofer, B; Kordiš, D; Birner-Gruenberger, R; Natter, K Characterization of a lipid droplet protein from Yarrowia lipolytica that is required for its oleaginous phenotype.
Biochim Biophys Acta Mol Cell Biol Lipids. 2018; 1863(10):1193-1205 [OPEN ACCESS]
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Borra, T; Custrin, A; Saggini, A; Fink-Puches, R; Cota, C; Vermi, W; Facchetti, F; Cerroni, L Pityriasis Lichenoides, Atypical Pityriasis Lichenoides, and Related Conditions: A Study of 66 Cases.
AM J SURG PATHOL. 2018; 42(8): 1101-1112.
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Bousquet, J; Agache, I; Aliberti, MR; Angles, R; Annesi-Maesano, I; Anto, JM; Arnavielhe, S; Asayag, E; Bacci, E; Bedbrook, A; Bachert, C; Baroni, I; Barreto, BA; Bedolla-Barajas, M; Bergmann, KC; Bertorello, L; Bewick, M; Bieber, T; Birov, S; Bindslev-Jensen, C; Blua, A; Bochenska Marciniak, M; Bogus-Buczynska, I; Bosnic-Anticevich, S; Bosse, I; Bourret, R; Bucca, C; Buonaiuto, R; Burguete Cabanas, MT; Caillaud, D; Caimmi, DP; Caiazza, D; Camargos, P; Canfora, G; Cardona, V; Carriazo, AM; Cartier, C; Castellano, G; Chavannes, NH; Cecci, L; Ciaravolo, MM; Cingi, C; Ciceran, A; Colas, L; Colgan, E; Coll, J; Conforti, D; Correia de Sousa, J; Cortés-Grimaldo, RM; Corti, F; Costa, E; Courbis, AL; Cousein, E; Cruz, AA; Custovic, A; Cvetkovski, B; Dario, C; da Silva, J; Dauvilliers, Y; De Blay, F; Dedeu, T; De Feo, G; De Martino, B; Demoly, P; De Vries, G; Di Capua Ercolano, S; Di Carluccio, N; Doulapsi, M; Dray, G; Dubakiene, R; Eller, E; Emuzyte, R; Espinoza-Contreras, JG; Estrada-Cardona, A; Farrell, J; Farsi, A; Ferrero, J; Fokkens, WJ; Fonseca, J; Fontaine, JF; Forti, S; Gálvez-Romero, JL; García-Cobas, CI; Garcia Cruz, MH; Gemicioğlu, B; Gerth van Wijk, R; Guidacci, M; Gómez-Vera, J; Guldemond, NA; Gutter, Z; Haahtela, T; Hajjam, J; Hellings, PW; Hernández-Velázquez, L; Illario, M; Ivancevich, JC; Jares, E; Joos, G; Just, J; Kalayci, O; Kalyoncu, AF; Karjalainen, J; Keil, T; Khaltaev, N; Klimek, L; Kritikos, V; Kull, I; Kuna, P; Kvedariene, V; Kolek, V; Krzych-Fałta, E; Kupczyk, M; Lacwik, P; La Grutta, S; Larenas-Linnemann, D; Laune, D; Lauri, D; Lavrut, J; Lessa, M; Levato, G; Lewis, L; Lieten, I; Lipiec, A; Louis, R; Luna-Pech, JA; Magnan, A; Malva, J; Maspero, JF; Matta-Campos, JJ; Mayora, O; Medina-Ávalos, MA; Melén, E; Menditto, E; Millot-Keurinck, J; Moda, G; Morais-Almeida, M; Mösges, R; Mota-Pinto, A; Mullol, J; Muraro, A; Murray, R; Noguès, M; Nalin, M; Napoli, L; Neffen, H; O'Hehir, RE; Onorato, GL; Palkonen, S; Papadopoulos, NG; Passalacqua, G; Pépin, JL; Pereira, AM; Persico, M; Pfaar, O; Pozzi, AC; Prokopakis, E; Pugin, B; Raciborski, F; Rimmer, J; Rizzo, JA; Robalo-Cordeiro, C; Rodríguez-González, M; Rolla, G; Roller-Wirnsberger, RE; Romano, A; Romano, M; Romano, MR; Salimäki, J; Samolinski, B; Serpa, FS; Shamai, S; Sierra, M; Sova, M; Sorlini, M; Stellato, C; Stelmach, R; Strandberg, T; Stroetmann, V; Stukas, R; Szylling, A; Tan, R; Tibaldi, V; Todo-Bom, A; Toppila-Salmi, S; Tomazic, P; Trama, U; Triggiani, M; Valero, A; Valovirta, E; Valiulis, A; van Eerd, M; Vasankari, T; Vatrella, A; Ventura, MT; Verissimo, MT; Viart, F; Williams, S; Wagenmann, M; Wanscher, C; Westman, M; Wickman, M; Young, I; Yorgancioglu, A; Zernotti, E; Zuberbier, T; Zurkuhlen, A; De Oliviera, B; Senn, A Transfer of innovation on allergic rhinitis and asthma multimorbidity in the elderly (MACVIA-ARIA) - EIP on AHA Twinning Reference Site (GARD research demonstration project).
Allergy. 2018; 73(1):77-92 [OPEN ACCESS]
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Bousquet, J; Arnavielhe, S; Bedbrook, A; Bewick, M; Laune, D; Mathieu-Dupas, E; Murray, R; Onorato, GL; Pépin, JL; Picard, R; Portejoie, F; Costa, E; Fonseca, J; Lourenço, O; Morais-Almeida, M; Todo-Bom, A; Cruz, AA; da Silva, J; Serpa, FS; Illario, M; Menditto, E; Cecchi, L; Monti, R; Napoli, L; Ventura, MT; De Feo, G; Larenas-Linnemann, D; Fuentes Perez, M; Huerta Villabolos, YR; Rivero-Yeverino, D; Rodriguez-Zagal, E; Amat, F; Annesi-Maesano, I; Bosse, I; Demoly, P; Devillier, P; Fontaine, JF; Just, J; Kuna, TP; Samolinski, B; Valiulis, A; Emuzyte, R; Kvedariene, V; Ryan, D; Sheikh, A; Schmidt-Grendelmeier, P; Klimek, L; Pfaar, O; Bergmann, KC; Mösges, R; Zuberbier, T; Roller-Wirnsberger, RE; Tomazic, P; Fokkens, WJ; Chavannes, NH; Reitsma, S; Anto, JM; Cardona, V; Dedeu, T; Mullol, J; Haahtela, T; Salimäki, J; Toppila-Salmi, S; Valovirta, E; Gemicioğlu, B; Yorgancioglu, A; Papadopoulos, N; Prokopakis, EP; Bosnic-Anticevich, S; O'Hehir, R; Ivancevich, JC; Neffen, H; Zernotti, E; Kull, I; Melen, E; Wickman, M; Bachert, C; Hellings, P; Palkonen, S; Bindslev-Jensen, C; Eller, E; Waserman, S; Sova, M; De Vries, G; van Eerd, M; Agache, I; Casale, T; Dykewickz, M; Naclerio, RN; Okamoto, Y; Wallace, DV; MASK study group MASK 2017: ARIA digitally-enabled, integrated, person-centred care for rhinitis and asthma multimorbidity using real-world-evidence.
Clin Transl Allergy. 2018; 8: 45-45. [OPEN ACCESS]
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Crnkovic, S; Marsh, LM; El Agha, E; Voswinckel, R; Ghanim, B; Klepetko, W; Stacher-Priehse, E; Olschewski, H; Bloch, W; Bellusci, S; Olschewski, A; Kwapiszewska, G Resident cell lineages are preserved in pulmonary vascular remodeling.
J Pathol. 2018; 244(4):485-498 [OPEN ACCESS]
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Day, F; Karaderi, T; Jones, MR; Meun, C; He, C; Drong, A; Kraft, P; Lin, N; Huang, H; Broer, L; Magi, R; Saxena, R; Laisk, T; Urbanek, M; Hayes, MG; Thorleifsson, G; Fernandez-Tajes, J; Mahajan, A; Mullin, BH; Stuckey, BGA; Spector, TD; Wilson, SG; Goodarzi, MO; Davis, L; Obermayer-Pietsch, B; Uitterlinden, AG; Anttila, V; Neale, BM; Jarvelin, MR; Fauser, B; Kowalska, I; Visser, JA; Andersen, M; Ong, K; Stener-Victorin, E; Ehrmann, D; Legro, RS; Salumets, A; McCarthy, MI; Morin-Papunen, L; Thorsteinsdottir, U; Stefansson, K; 23andMe Research Team; Styrkarsdottir, U; Perry, JRB; Dunaif, A; Laven, J; Franks, S; Lindgren, CM; Welt, CK Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.
PLoS Genet. 2018; 14(12):e1007813-e1007813 [OPEN ACCESS]
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Gainotti, S; Torreri, P; Wang, CM; Reihs, R; Mueller, H; Heslop, E; Roos, M; Badowska, DM; de Paulis, F; Kodra, Y; Carta, C; Martìn, EL; Miller, VR; Filocamo, M; Mora, M; Thompson, M; Rubinstein, Y; Posada de la Paz, M; Monaco, L; Lochmüller, H; Taruscio, D The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.
Eur J Hum Genet. 2018; 26(5): 631-643. [OPEN ACCESS]
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Gungl, A; Biasin, V; Wilhelm, J; Olschewski, A; Kwapiszewska, G; Marsh, LM Fra2 Overexpression in Mice Leads to Non-allergic Asthma Development in an IL-13 Dependent Manner.
Front Immunol. 2018; 9(10):2018-2018 [OPEN ACCESS]
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Marschik, PB; Lemcke, S; Einspieler, C; Zhang, D; Bölte, S; Townend, GS; Lauritsen, MB Early development in Rett syndrome - the benefits and difficulties of a birth cohort approach.
Dev Neurorehabil. 2018; 21(1):68-72 [OPEN ACCESS]
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O'Byrne, JJ; Tarailo-Graovac, M; Ghani, A; Champion, M; Deshpande, C; Dursun, A; Ozgul, RK; Freisinger, P; Garber, I; Haack, TB; Horvath, R; Barić, I; Husain, RA; Kluijtmans, LAJ; Kotzaeridou, U; Morris, AA; Ross, CJ; Santra, S; Smeitink, J; Tarnopolsky, M; Wortmann, SB; Mayr, JA; Brunner-Krainz, M; Prokisch, H; Wasserman, WW; Wevers, RA; Engelke, UF; Rodenburg, RJ; Ting, TW; McFarland, R; Taylor, RW; Salvarinova, R; van Karnebeek, CDM The genotypic and phenotypic spectrum of MTO1 deficiency.
Mol Genet Metab. 2018; 123(1):28-42 (- Case Report) [OPEN ACCESS]
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Srinivasaraghavan, R; Parameswaran, N; Mathis, D; Bürer, C; Plecko, B Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings.
Neuropediatrics. 2018; 49(2):154-157
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Winkels, H; Ehinger, E; Vassallo, M; Buscher, K; Dinh, HQ; Kobiyama, K; Hamers, AAJ; Cochain, C; Vafadarnejad, E; Saliba, AE; Zernecke, A; Pramod, AB; Ghosh, AK; Anto Michel, N; Hoppe, N; Hilgendorf, I; Zirlik, A; Hedrick, CC; Ley, K; Wolf, D Atlas of the Immune Cell Repertoire in Mouse Atherosclerosis Defined by Single-Cell RNA-Sequencing and Mass Cytometry.
Circ Res. 2018; 122(12):1675-1688 [OPEN ACCESS]
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Zoran, T; Sartori, B; Sappl, L; Aigner, M; Sánchez-Reus, F; Rezusta, A; Chowdhary, A; Taj-Aldeen, SJ; Arendrup, MC; Oliveri, S; Kontoyiannis, DP; Alastruey-Izquierdo, A; Lagrou, K; Cascio, GL; Meis, JF; Buzina, W; Farina, C; Drogari-Apiranthitou, M; Grancini, A; Tortorano, AM; Willinger, B; Hamprecht, A; Johnson, E; Klingspor, L; Arsic-Arsenijevic, V; Cornely, OA; Meletiadis, J; Prammer, W; Tullio, V; Vehreschild, JJ; Trovato, L; Lewis, RE; Segal, E; Rath, PM; Hamal, P; Rodriguez-Iglesias, M; Roilides, E; Arikan-Akdagli, S; Chakrabarti, A; Colombo, AL; Fernández, MS; Martin-Gomez, MT; Badali, H; Petrikkos, G; Klimko, N; Heimann, SM; Uzun, O; Roudbary, M; de la Fuente, S; Houbraken, J; Risslegger, B; Lass-Flörl, C; Lackner, M Azole-Resistance in Aspergillus terreus and Related Species: An Emerging Problem or a Rare Phenomenon?
FRONT MICROBIOL. 2018; 9(12): 516-516. [OPEN ACCESS]
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2017

Andrei, AŞ; Păuşan, MR; Tămaş, T; Har, N; Barbu-Tudoran, L; Leopold, N; Banciu, HL Diversity and Biomineralization Potential of the Epilithic Bacterial Communities Inhabiting the Oldest Public Stone Monument of Cluj-Napoca (Transylvania, Romania).
Front Microbiol. 2017; 8(5):372-372 [OPEN ACCESS]
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Bousquet, J; Caimmi, DP; Bedbrook, A; Bewick, M; Hellings, PW; Devillier, P; Arnavielhe, S; Bachert, C; Bergmann, KC; Canonica, GW; Chavannes, NH; Cruz, AA; Dahl, R; Demoly, P; De Vries, G; Mathieu-Dupas, E; Finkwagner, A; Fonseca, J; Guldemond, N; Haahtela, T; Hellqvist-Dahl, B; Just, J; Keil, T; Klimek, L; Kowalski, ML; Kuitunen, M; Kuna, P; Kvedariene, V; Laune, D; Pereira, AM; Carreiro-Martins, P; Melén, E; Morais-Almeida, M; Mullol, J; Muraro, A; Murray, R; Nogueira-Silva, L; Papadopoulos, NG; Passalacqua, G; Portejoie, F; Price, D; Ryan, D; Samolinski, B; Sheikh, A; Siroux, V; Spranger, O; Todo Bom, A; Tomazic, PV; Valero, A; Valovirta, E; Valiulis, A; VandenPlas, O; van der Meulen, S; van Eerd, M; Wickman, M; Zuberbier, T Pilot study of mobile phone technology in allergic rhinitis in European countries: the MASK-rhinitis study.
Allergy. 2017; 72(6):857-865 [OPEN ACCESS]
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Cerroni, L Past, present and future of cutaneous lymphomas.
Semin Diagn Pathol. 2017; 34(1):3-14
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Duchene, J; Novitzky-Basso, I; Thiriot, A; Casanova-Acebes, M; Bianchini, M; Etheridge, SL; Hub, E; Nitz, K; Artinger, K; Eller, K; Caamaño, J; Rülicke, T; Moss, P; Megens, RTA; von Andrian, UH; Hidalgo, A; Weber, C; Rot, A Atypical chemokine receptor 1 on nucleated erythroid cells regulates hematopoiesis.
Nat Immunol. 2017; 18(7):753-761 [OPEN ACCESS]
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Enko, D; Kriegshäuser, G; Halwachs-Baumann, G; Mangge, H; Schnedl, WJ Serum diamine oxidase activity is associated with lactose malabsorption phenotypic variation.
Clin Biochem. 2017; 50(1-2):50-53
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Fessler, J; Raicht, A; Husic, R; Ficjan, A; Schwarz, C; Duftner, C; Schwinger, W; Graninger, WB; Stradner, MH; Dejaco, C Novel Senescent Regulatory T-Cell Subset with Impaired Suppressive Function in Rheumatoid Arthritis.
Front Immunol. 2017; 8(1):300-300 [OPEN ACCESS]
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Fröhlich, E Role of omics techniques in the toxicity testing of nanoparticles.
J Nanobiotechnology. 2017; 15(1):84-84 [OPEN ACCESS]
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Gratwohl, A; Sureda, A; Cornelissen, J; Apperley, J; Dreger, P; Duarte, R; Greinix, HT; Mc Grath, E; Kroeger, N; Lanza, F; Nagler, A; Snowden, JA; Niederwieser, D; Brand, R Alloreactivity: the Janus-face of hematopoietic stem cell transplantation.
Leukemia. 2017; 31(8):1752-1759 [OPEN ACCESS]
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Jahic, A; Hinreiner, S; Emberger, W; Hehr, U; Zuchner, S; Beetz, C Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions.
Hum Mutat. 2017; 38(3):275-278
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Kohl Schwartz, AS; Wölfler, MM; Mitter, V; Rauchfuss, M; Haeberlin, F; Eberhard, M; von Orelli, S; Imthurn, B; Imesch, P; Fink, D; Leeners, B Endometriosis, especially mild disease: a risk factor for miscarriages.
FERTIL STERIL. 2017; 108(5): 806-814. [OPEN ACCESS]
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Lohberger, B; Stuendl, N; Leithner, A; Rinner, B; Sauer, S; Kashofer, K; Liegl-Atzwanger, B Establishment of a novel cellular model for myxofibrosarcoma heterogeneity.
Sci Rep. 2017; 7(9):44700-44700 [OPEN ACCESS]
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Narchi, H; Alhefeiti, S; Althabahi, F; Hertecant, J; Knisely, AS; Souid, AK Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V).
Saudi J Gastroenterol. 2017; 23(5):303-305 (- Case Report) [OPEN ACCESS]
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Putaala, J; Martinez-Majander, N; Saeed, S; Yesilot, N; Jäkälä, P; Nerg, O; Tsivgoulis, G; Numminen, H; Gordin, D; von Sarnowski, B; Waje-Andreassen, U; Ylikotila, P; Roine, RO; Zedde, M; Huhtakangas, J; Fonseca, C; Redfors, P; de Leeuw, FE; Pezzini, A; Kõrv, J; Schneider, S; Tanislav, C; Enzinger, C; Jatuzis, D; Siegerink, B; Martínez-Sánchez, P; Grau, AJ; Palm, F; Groop, PH; Lanthier, S; Ten Cate, H; Pussinen, P; Paju, S; Sinisalo, J; Lehto, M; Lindgren, A; Ferro, J; Kittner, S; Fazekas, F; Gerdts, E; Tatlisumak, T Searching for Explanations for Cryptogenic Stroke in the Young: Revealing the Triggers, Causes, and Outcome (SECRETO): Rationale and design.
Eur Stroke J. 2017; 2(2): 116-125. [OPEN ACCESS]
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Robier, C; Amouzadeh-Ghadikolai, O; Bregant, C; Diez, J; Melinz, K; Quehenberger, F; Quasthoff, S The frequency of occurrence of atypical lymphocytes in peripheral blood smears of natalizumab-treated patients with multiple sclerosis.
Int J Lab Hematol. 2017; 39(5):469-474
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