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

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Publikationen

Suchbegriffe: MOLECULAR GENETICS, . Treffer: 19

2020

Ali, MZ; Blatterer, J; Khan, MA; Schaflinger, E; Petek, E; Ahmad, S; Khan, E; Windpassinger, C Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.
Mol Genet Genomic Med. 2020; e1060-e1060. [OPEN ACCESS]
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Georgiou, M; Kane, T; Tanna, P; Bouzia, Z; Singh, N; Kalitzeos, A; Strauss, RW; Fujinami, K; Michaelides, M Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adult-Onset Disease, and Disease Symmetry.
Am J Ophthalmol. 2020; 211(4):159-175 [OPEN ACCESS]
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Haybaeck, J; Roessner, A [Malignant round cell tumors : The Ewing sarcoma and beyond].
Pathologe. 2020; 41(2):116-122
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Roessner, A; Schoeder, V; Smolle, M; Haybäck, J [Osteoid-forming bone tumors : Morphology and current translational cell biology].
Pathologe. 2020; 41(2):123-133
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2019

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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Spasic, S; Brcic, I; Freire, R; Garcia-Buitrago, MT; Rosenberg, AE Epithelioid Hemangioendothelioma of the Bowel in Crohn's Disease: The First Reported Case.
Int J Surg Pathol. 2019; 27(4): 423-426.
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Wadsack, D; Sattler, H; Kleber, ME; Eirich, K; Scharnagl, H; Fauler, G; März, W; Grammer, TB Recurrent tendosynovitis as a rare manifestation of a lipid disorder.
J Clin Lipidol. 2019; 13(1): 54-61.
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2016

Khan, MA; Khan, S; Windpassinger, C; Badar, M; Nawaz, Z; Mohammad, RM The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.
Ann Hum Genet. 2016; 80(6):342-368 [OPEN ACCESS]
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Scholl, HP; Strauss, RW; Singh, MS; Dalkara, D; Roska, B; Picaud, S; Sahel, JA Emerging therapies for inherited retinal degeneration.
Sci Transl Med. 2016; 8(368):368rv6-368rv6
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2011

Pichler, MM; Bodner, C; Fischer, C; Deutsch, AJ; Hiden, K; Beham-Schmid, C; Linkesch, W; Guelly, C; Sill, H; Wölfler, A Evaluation of mutations in the isocitrate dehydrogenase genes in therapy-related and secondary acute myeloid leukaemia identifies a patient with clonal evolution to IDH2 R172K homozygosity due to uniparental disomy.
Br J Haematol. 2011; 152(5): 669-672. [OPEN ACCESS]
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2010

Lemez, P; Attarbaschi, A; Béné, MC; Bertrand, Y; Castoldi, G; Forestier, E; Garand, R; Haas, OA; Kagialis-Girard, S; Ludwig, WD; Matutes, E; Mejstríková, E; Pages, MP; Pickl, W; Porwit, A; Orfao, A; Schabath, R; Starı, J; Strobl, H; Talmant, P; van't Veer, MB; Zemanová, Z; European Group for the Immunological Characterization of Leukemias (EGIL) Childhood near-tetraploid acute lymphoblastic leukemia: an EGIL study on 36 cases.
Eur J Haematol. 2010; 85(4):300-308
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2009

Wackernagel, W; Schneider, M; Mayer, CF; Langmann, G; Singh, AD Genetik des Aderhautmelanoms
Spektrum der Augenheilkunde. 2009; 23: 319-332.
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2008

Knüchel-Clarke, R; Koufou, SV; Speicher, M; Schwamborn, K; Zaak, D; Stöhr, R Precancerous lesions of the urothelium. From Feulgen staining to single cell CGH
Pathologe. 2008; 29(5):364-370
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2007

McGovern, MM; Elles, R; Beretta, I; Somerville, MJ; Hoefler, G; Keinanen, M; Barton, D; Carson, N; Dequeker, E; Brdicka, R; Blazkova, A; Aymé, S; Schnieders, B; Muller, CR; Dalen, V; Martinez, AA; Kristoffersson, U; Ozguc, M; Mueller, H; Boone, J; Lubin, IM; Sequeiros, J; Taruscio, D; Williamson, B; Mainland, L; Yoshikura, H; Ronchi, E Report of an international survey of molecular genetic testing laboratories.
Community Genet. 2007; 10(3):123-131
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2006

Auer-Grumbach, M; Mauko, B; Auer-Grumbach, P; Pieber, TR Molecular genetics of hereditary sensory neuropathies.
NEUROMOL MED. 2006; 8(1-2): 147-158.
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Fargnoli, MC; Argenziano, G; Zalaudek, I; Peris, K High- and low-penetrance cutaneous melanoma susceptibility genes.
EXPERT REV ANTICANCER THER. 2006; 6: 657-670.
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Klemke, CD; Goerdt, S; Schrama, D; Becker, JC New insights into the molecular biology and targeted therapy of cutaneous T-cell lymphomas.
J Dtsch Dermatol Ges. 2006; 4(5):395-406
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1999

Gratze, G; Fortin, J; Labugger, R; Binder, A; Kotanko, P; Timmermann, B; Luft, FC; Hoehe, MR; Skrabal, F beta-2 Adrenergic receptor variants affect resting blood pressure and agonist-induced vasodilation in young adult Caucasians.
Hypertension. 1999; 33(6):1425-1430 [OPEN ACCESS]
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1997

Cerroni, L; Minkus, G; Pütz, B; Höfler, H; Kerl, H Laser beam microdissection in the diagnosis of cutaneous B-cell lymphoma.
Br J Dermatol. 1997; 136(5):743-746 (- Case Report)
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