Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: SYNDROME - , . Treffer: 59
2020
Saggini, A; Cerroni, L; Lora, V; Cota, C
Biological Significance of the Association Between Cutaneous Al-amyloidoma and Sjögren Syndrome.
Am J Dermatopathol. 2020; 42(7): 553-555.
Doi: 10.1097/DAD.0000000000001528
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2017
Gruber, R; Rogerson, C; Windpassinger, C; Banushi, B; Straatman-Iwanowska, A; Hanley, J; Forneris, F; Strohal, R; Ulz, P; Crumrine, D; Menon, GK; Blunder, S; Schmuth, M; Müller, T; Smith, H; Mills, K; Kroisel, P; Janecke, AR; Gissen, P
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
J Invest Dermatol. 2017; 137(4):845-854
Doi: 10.1016/j.jid.2016.12.010
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Lytvynchuk, LM; Glittenberg, CG; Ansari-Shahrezaei, S; Binder, S
Intraoperative optical coherence tomography assisted analysis of pars Plana vitrectomy for retinal detachment in morning glory syndrome: a case report.
BMC Ophthalmol. 2017; 17(1):134-134
Doi: 10.1186/s12886-017-0533-0
(- Case Report)
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Popper, H
[Interstitial processes of the lungs in childhood].
Pathologe. 2017; 38(4):260-271
Doi: 10.1007/s00292-017-0280-2
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2016
Kopajtich, R; Murayama, K; Janecke, AR; Haack, TB; Breuer, M; Knisely, AS; Harting, I; Ohashi, T; Okazaki, Y; Watanabe, D; Tokuzawa, Y; Kotzaeridou, U; Kölker, S; Sauer, S; Carl, M; Straub, S; Entenmann, A; Gizewski, E; Feichtinger, RG; Mayr, JA; Lackner, K; Strom, TM; Meitinger, T; Müller, T; Ohtake, A; Hoffmann, GF; Prokisch, H; Staufner, C
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Am J Hum Genet. 2016; 99(2):414-422
Doi: 10.1016/j.ajhg.2016.05.027
(- Case Report)
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Laaksonen, R; Ekroos, K; Sysi-Aho, M; Hilvo, M; Vihervaara, T; Kauhanen, D; Suoniemi, M; Hurme, R; März, W; Scharnagl, H; Stojakovic, T; Vlachopoulou, E; Lokki, ML; Nieminen, MS; Klingenberg, R; Matter, CM; Hornemann, T; Jüni, P; Rodondi, N; Räber, L; Windecker, S; Gencer, B; Pedersen, ER; Tell, GS; Nygård, O; Mach, F; Sinisalo, J; Lüscher, TF
Plasma ceramides predict cardiovascular death in patients with stable coronary artery disease and acute coronary syndromes beyond LDL-cholesterol.
Eur Heart J. 2016; 37(25):1967-1976
Doi: 10.1093/eurheartj/ehw148
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Pichler, G; Fazekas, F
Cardiopulmonary arrest is the most frequent cause of the unresponsive wakefulness syndrome: A prospective population-based cohort study in Austria.
Resuscitation. 2016; 103(6):94-98
Doi: 10.1016/j.resuscitation.2016.02.023
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Vinod, M; Patankar, JV; Sachdev, V; Frank, S; Graier, WF; Kratky, D; Kostner, GM
MiR-206 is expressed in pancreatic islets and regulates glucokinase activity.
Am J Physiol Endocrinol Metab. 2016; 311(1):E175-E185
Doi: 10.1152/ajpendo.00510.2015
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2015
Gaggl, M; Hofer, M; Weidner, S; Kleinert, J; Fauler, G; Wallner, M; Kotanko, P; Paschke, E; Sunder-Plassmann, G
Interfering parameters in the determination of urinary globotriaosylceramide (Gb3) in patients with chronic kidney disease.
J Nephrol. 2015; 28(6):679-689
Doi: 10.1007/s40620-015-0193-1
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Springett, A; Wellesley, D; Greenlees, R; Loane, M; Addor, MC; Arriola, L; Bergman, J; Cavero-Carbonell, C; Csaky-Szunyogh, M; Draper, ES; Garne, E; Gatt, M; Haeusler, M; Khoshnood, B; Klungsoyr, K; Lynch, C; Dias, CM; McDonnell, R; Nelen, V; O'Mahony, M; Pierini, A; Queisser-Luft, A; Rankin, J; Rissmann, A; Rounding, C; Stoianova, S; Tuckerz, D; Zymak-Zakutnia, N; Morris, JK
Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011.
Am J Med Genet A. 2015; 167A(12):3062-3069
Doi: 10.1002/ajmg.a.37355
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Townend, GS; Bartl-Pokorny, KD; Sigafoos, J; Curfs, LM; Bölte, S; Poustka, L; Einspieler, C; Marschik, PB
Comparing social reciprocity in preserved speech variant and typical Rett syndrome during the early years of life.
Res Dev Disabil. 2015; 43-44(8):80-86
Doi: 10.1016/j.ridd.2015.06.008
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2013
Friedmacher, F; Puri, P
Classification and diagnostic criteria of variants of Hirschsprung's disease.
Pediatr Surg Int. 2013; 29(9): 855-872.
Doi: 10.1007/s00383-013-3351-3
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2012
Avni, FE; Garel, C; Cassart, M; D'Haene, N; Hall, M; Riccabona, M
Imaging and classification of congenital cystic renal diseases.
AM J ROENTGENOL. 2012; 198(5): 1004-1013.
Doi: 10.2214/AJR.11.8083
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Patel, K; Akhter, J; Kobrynski, L; Benjamin Gathmann, MA; Gathman, B; Davis, O; Sullivan, KE; International DiGeorge Syndrome Immunodeficiency Consortium
Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge Syndrome.
J Pediatr. 2012; 161(5): 950-953.
Doi: 10.1016/j.jpeds.2012.06.018
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2011
Amrein, S; Amrein, K; Amegah-Sakotnik, A; Reist, U; Ensner, R
Propofol infusion syndrome-a critical incident report highlighting the danger of reexposure.
J Neurosurg Anesthesiol. 2011; 23(3): 265-266.
Doi: 10.1097/ANA.0b013e31820f8f9a
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Conzelmann, LO; Krüger, T; Hoffmann, I; Rylski, B; Easo, J; Oezkur, M; Kallenbach, K; Dapunt, O; Karck, M; Weigang, E; Teilnehmenden GERAADA-Zentren
German Registry for Acute Aortic Dissection Type A (GERAADA): initial results].
HERZ. 2011; 36(6): 513-524.
Doi: 10.1007/s00059-011-3512-x
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Passerini, L; Di Nunzio, S; Gregori, S; Gambineri, E; Cecconi, M; Seidel, MG; Cazzola, G; Perroni, L; Tommasini, A; Vignola, S; Guidi, L; Roncarolo, MG; Bacchetta, R
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome.
Eur J Immunol. 2011; 41(4):1120-1131
Doi: 10.1002/eji.201040909
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2010
Schlegel, N; Bardet, V; Kenet, G; Muntean, W; Zieger, B; Nowak-Gottl, U
Diagnostic and therapeutic considerations on inherited platelet disorders in neonates and children.
KLIN PADIAT. 2010; 222(3): 209-214.
Doi: 10.1055/s-0030-1249065
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Zalaudek, I; Kittler, H; Blum, A; Hofmann-Wellenhof, R; Marghoob, AA; Malvehy, J; Menzies, SW; Puig, S; Soyer, P; Stolz, W; Argenziano, G
Who benefits from prophylactic surgical removal of dysplastic nevi?
J DTSCH DERMATOL GES. 2010; 8(4): 279-280.
Doi: 10.1111/j.1610-0387.2010.07377.x
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Zampetti, A; Gnarra, M; Linder, D; Antuzzi, D; Cataldi, L; Tulli, A; Feliciani, C
Early-onset basal cell carcinoma in a case of Ivemark syndrome.
Eur J Dermatol. 2010; 20(6): 845-846.
Doi: 10.1684/ejd.2010.1093
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Zipfel, PF; Mache, C; Müller, D; Licht, C; Wigger, M; Skerka, C; for the European DEAP-HUS Study Group
DEAP-HUS: Deficiency of CFHR plasma proteins and autoantibody-positive form of hemolytic uremic syndrome.
Pediatr Nephrol. 2010; 25(10): 2009-2019.
Doi: 10.1007/s00467-010-1446-9
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2009
Amrein, K; Schmid, P; Mansouri Taleghani, B
Delayed haemolytic transfusion reaction initially presenting as serum sickness like syndrome.
Eur J Intern Med. 2009; 20(5): e122-e123.
Doi: 10.1016/j.ejim.2008.11.002
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Beitzke, M; Enzinger, C; Niederkorn, K; Klein, GE; Beitzke, D; Horner, S; Fazekas, F
Recurrent hyperperfusion syndrome and intracerebral hemorrhage after recanalization of the extracranial carotid artery.
Cerebrovasc Dis. 2009; 27(3): 303-307.
Doi: 10.1159/000201557
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Comi, G; Martinelli, V; Rodegher, M; Moiola, L; Bajenaru, O; Carra, A; Elovaara, I; Fazekas, F; Hartung, HP; Hillert, J; King, J; Komoly, S; Lubetzki, C; Montalban, X; Myhr, KM; Ravnborg, M; Rieckmann, P; Wynn, D; Young, C; Filippi, M
Effect of glatiramer acetate on conversion to clinically definite multiple sclerosis in patients with clinically isolated syndrome (PreCISe study): a randomised, double-blind, placebo-controlled trial.
Lancet. 2009; 374(9700):1503-1511
Doi: 10.1016/S0140-6736(09)61259-9
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Mayerhofer, M; Haushofer, A; Kyrle, PA; Chott, A; Müllner, C; Quehenberger, P; Worel, N; Traby, L; Eichinger, S
Mechanisms underlying acquired von Willebrand syndrome associated with an IgM paraprotein.
Eur J Clin Invest. 2009; 39(9):833-836
Doi: 10.1111/j.1365-2362.2009.02177.x
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2008
Dejaco, C; Wipfler, E; Duftner, C; Kriessmayr, M; Rogatsch, H; Breitenhuber, D; Weiss, H; Schirmer, M
Remitting seronegative syndrome with pitting edema as the presenting symptom in a young, male patient with sarcoidosis: a case report.
Arthritis Rheum. 2008; 59(1): 148-152.
Doi: 10.1002/art.23252
(- Case Report)
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Fruhauf, J; Schaider, H; Massone, C; Kerl, H; Mullegger, RR
Carbamazepine as the only effective treatment in a 52-year-old man with trigeminal trophic syndrome.
MAYO CLIN PROC. 2008; 83(4): 502-504.
Doi: 10.4065/83.4.502
(- Case Report)
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Jahns, BG; Stein, W; Hilfiker-Kleiner, D; Pieske, B; Emons, G
Peripartum cardiomyopathy--a new treatment option by inhibition of prolactin secretion.
Am J Obstet Gynecol. 2008; 199(4):e5-e6
Doi: 10.1016/j.ajog.2008.06.051
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Schulz, AL; Albrecht, B; Arici, C; van der Burgt, I; Buske, A; Gillessen-Kaesbach, G; Heller, R; Horn, D; Hübner, CA; Korenke, GC; König, R; Kress, W; Krüger, G; Meinecke, P; Mücke, J; Plecko, B; Rossier, E; Schinzel, A; Schulze, A; Seemanova, E; Seidel, H; Spranger, S; Tuysuz, B; Uhrig, S; Wieczorek, D; Kutsche, K; Zenker, M
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Clin Genet. 2008; 73(1):62-70
Doi: 10.1111/j.1399-0004.2007.00931.x
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Wendelin, G; Fandl, A; Beitzke, A
High-dose intravenous immunoglobulin in recurrent postpericardiotomy syndrome.
Pediatr Cardiol. 2008; 29(2):463-464
Doi: 10.1007/s00246-007-9025-y
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2007
Mueller, AA; Sader, R; Honigmann, K; Zeilhofer, HF; Schwenzer-Zimmerer, K
Central nervous malformations in presence of clefts reflect developmental interplay.
Int J Oral Maxillofac Surg. 2007; 36(4): 289-295.
Doi: 10.1016/j.ijom.2006.10.018
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Wehrschuetz, M; Simbrunner, J; Enzinger, C; Ebner, F
[Hemiballism-hemichorea syndrome].
Rofo. 2007; 179(1):85-87
Doi: 10.1055/s-2006-927055
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Windisch, G; Braun, EM; Anderhuber, F
Piriformis muscle: clinical anatomy and consideration of the piriformis syndrome.
Surg Radiol Anat. 2007; 29(1): 37-45.
Doi: 10.1007/s00276-006-0169-x
[Oral Communication]
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2006
Hochegger, K; Gruber, J; Lhotta, K
Acute inflammatory syndrome induced by mycophenolate mofetil in a patient following kidney transplantation.
Am J Transplant. 2006; 6(4):852-854
Doi: 10.1111/j.1600-6143.2006.01251.x
(- Case Report)
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Mendes, LF; Pretterklieber, ML; Cho, JH; Garcia, GM; Resnick, DL; Chung, CB
Pellegrini-Stieda disease: a heterogeneous disorder not synonymous with ossification/calcification of the tibial collateral ligament-anatomic and imaging investigation.
Skeletal Radiol. 2006; 35(12): 916-922.
Doi: 10.1007/s00256-006-0174-5
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Zollner, G; Trauner, M
Molecular mechanisms of cholestasis.
Wien Med Wochenschr. 2006; 156(13-14):380-385
Doi: 10.1007/s10354-006-0312-7
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2005
Bergovec, M; Heim, I; Vasilj, I; Jembrek-Gostovic, M; Bergovec, M; Strnad, M
Acute coronary syndrome and the 1992-1995 war in Bosnia and Herzegovina: a 10-year retrospective study.
Mil Med. 2005; 170(5):431-434
Doi: 10.7205/MILMED.170.5.431
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Gemes, G; Fuchs, TJ; Wildner, G; Smolle-Jüttner, FM; Smolle, J; Stoschitzky, K; Prause, G
The acute coronary syndrome--pre-hospital diagnostic quality.
Resuscitation. 2005; 66(3):323-330
Doi: 10.1016/j.resuscitation.2005.04.006
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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
Doi: 10.3892/ijmm.15.2.247
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Mayr, AJ; Lederer, W; Wolf, HJ; Dünser, M; Pfaller, K; Mörtl, MG
Morphologic changes of the uteroplacental unit in preeclampsia-like syndrome in rats.
Hypertens Pregnancy. 2005; 24(1):29-37
Doi: 10.1081/PRG-45770
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Pichler, R; Stelzer, C; Berg, J; Holzinger, C; Eckl, KM; Hennies, HC; Auböck, J
Hypoplastic thyroid, growth hormone deficiency, corneal opacities, cataract and hyperkeratotic skin disease: a possible new ichthyosis syndrome associated with endocrinopathies.
Arch Dermatol Res. 2005; 296(12):585-587
Doi: 10.1007/s00403-005-0566-8
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2004
Cassens, U; Göhde, W; Kuling, G; Gröning, A; Schlenke, P; Lehman, LG; Traoré, Y; Servais, J; Henin, Y; Reichelt, D; Greve, B
Simplified volumetric flow cytometry allows feasible and accurate determination of CD4 T lymphocytes in immunodeficient patients worldwide.
Antivir Ther. 2004; 9(3):395-405
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Item, CB; Turhani, D; Thurnher, D; Sinko, K; Yerit, K; Galev, K; Wittwer, G; Lanre Adeyemo, W; Klemens, F; Ewers, R; Watzinger, F
Gene symbol: IRF6. Disease: Van der Woude syndrome.
Hum Genet. 2004; 115(2):175-175
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Kniepeiss, D; Michael, Z; Iberer, F; Silvia, S; Estrella, J; Doris, D; Tscheliessnigg, KH
Influence of retrograde flushing via the caval vein on the post-reperfusion syndrome in liver transplantation.
CLIN TRANSPLANT. 2004; 18(6): 638-641.
Doi: 10.1111/j.1399-0012.2004.00231.x
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2002
Valianpour, F; Wanders, RJ; Overmars, H; Vreken, P; Van Gennip, AH; Baas, F; Plecko, B; Santer, R; Becker, K; Barth, PG
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.
J Pediatr. 2002; 141(5):729-733
Doi: 10.1067/mpd.2002.129174
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2001
Acham, A; Walch, C
Mondini dysplasia without functional impairment in the framework of a CHARGE association
LARYNGO RHINO OTOL. 2001; 80(7): 381-384.
Doi: 10.1055%2Fs-2001-15709
(- Case Report)
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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
Doi: 10.1086/302703
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Vreken, P; Valianpour, F; Nijtmans, LG; Grivell, LA; Plecko, B; Wanders, RJ; Barth, PG
Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome.
Biochem Biophys Res Commun. 2000; 279(2):378-382
Doi: 10.1006/bbrc.2000.3952
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1998
Weiss, PA; Kainer, F; Haas, J
Cord blood insulin to assess the quality of treatment in diabetic pregnancies.
Early Hum Dev. 1998; 51(3):187-195
Doi: 10.1016%2FS0378-3782%2897%2900121-7
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1997
Fruhwirth, J; Mischinger, HJ; Werkgartner, G; Beham, A; Pfaffenthaller, EC
Köhlmeier-Degos's disease with primary intestinal manifestation.
Scand J Gastroenterol. 1997; 32(10):1066-1070
Doi: 10.3109/00365529709011226
(- Case Report)
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