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Archivierte Veröffentlichungen vor 2003

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Axel Rüfer, Jeremy P. Howell, Alex P. Lange, Raina Yamamoto, Julia Heuscher, Michael Gregor, Walter A. Wuillemin

Hyperferritinämie und Eisenmangel – eine außergewöhnliche Liaison. Forum Med Suisse 2011; 11(5): 87–88.
Artikel online unter www.medicalforum.ch.

Axel Rüfer, Jeremy P. Howell, Alex P. Lange, Raina Yamamoto, Julia Heuscher, Michael Gregor, Walter A. Wuillemin.

Hereditary hyperferritinemia-cataract syndrome (HHCS) presenting with iron deficiency anemia associated with a new mutation in the iron responsive element of the L ferritin gene in a swiss family.

European Journal of Haematology
Abstrakt unter Eur J Haematol. 2011 Mar 15. doi: 10.1111/j.1600-0609.2011.01607.x.

Hui Liu, Loubna El Zein, Martin Kruse, Romain Guinamard, Alf Beckmann, André Bozio, Güven Kurtbay, André Mégarbané, Iris Ohmert, Gérard Blaysat, Elisabeth Villain, Olaf Pongs, and Patrice Bouvagnet

Gain-of-Function Mutations in TRPM4 Cause Autosomal Dominant Isolated Cardiac Conduction Disease. Circ Cardiovasc Genet 2010 3: 374-385.

M. Reiser, S. Eickmann , T. Haverkamp, U. Finckh

Case Report. Variegate porphyria in a 46-year-old patient taking sibutramine for weight loss
International Association for the Study of Obesity, Obesity Reviews, October 20, 2009

Martin Kruse, Eric Schulze-Bahr, Valerie Corfield, Alf Beckmann, Birgit Stallmeyer, Güven Kurtbay, Iris Ohmert, Ellen Schulze-Bahr, Paul Brink and Olaf Pongs

Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I

J Clin Invest. 2009 September 1; 119(9): 2737–2744.
Published online 2009 August 24. doi: 10.1172/JCI38292; online siehe hier.

Coskun A, Unsal I, Serteser M, Fraterman A

Towards standardization of external quality assessment schemes
by using bias values based on biological variation

Accred Qual Assur, 2009, DOI 10.1007/s00769-009-0549-0, S. 547-552; online siehe hier

Lehnen H, Vinke M., Schwennicke C, Pascheberg U

Klassische maternale Phenylketonurie und sonografische Hinweiszeichen auf eine fetale Trisomie 21, Erstbeschreibung

Z Geburtshilfe Neonatol 2009; 213; doi:10.1055/s-0028-1098734; S. 1-5

Unsal I, Fraterman A, Kayihan I, Akyar I, Serteser M

ISO 15189 accreditation in medical laboratories: An institutional experience from Turkey

Clin Biochem. 2009 March, 42 (4-5); doi:10.1016/j.clinbiochem.2008.09.022; S. 304-305

Vogel Y, Büchner NJ, Haverkamp T, Henning BF

Familial Mediterranean fever. Rare manifestation without fever and with inconspicuous family case history

Dtsch Med Wochenschr. 2008 Aug, 133 (31-32); doi:10.1055/s-0028-1082777; S. 1621-4; online siehe hier.

Lehnen H., Vinke M., Schwennicke G, Pascheberg U

First Description of a Case of Classic Maternal Phenylketonuria and Sonographic Signs of Fetal Trisomy 21

XXIV International Congress "The Fetus as a Patient", Frankfurt 2008; S. 93-97

Shimomura A, Lilienfeld-Toal M, Balta Z,Schroers E, Schmidt-Wolf I, Büttner R, Rücker A, Gütgemann I

Absent immunoglobulins in HIV-related Burkitt lymphoma/leukaemia

Annals Hemantology (2008) 87.3; S. 255-256

Wandt H, Schäkel U, Kroschinsky F, Prange-Krex G, Mohr B, Thiede C, Pascheberg U, Soucek S, Schaich M, Ehninger G.

MLD according to the WHO classification in AML has no correlation with age and no independent prognostic relevance as analyzed in 1766 patients

Blood (2008), 111(4), S. 1855-1861

Abdurrahman Coskun A, Serteser M, Fraterman A, Unsal I

A new internal quality control chart based on biological variation

Accreditation and Quality Assurance, 13/2 (2008); S. 69-75

Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation

NEUROLOGY 69 (2007); S. 368-375

Hasselblatt M, S Föllinger, P Steinbach, A Schwan, W Paulus

Corticobasal degeneration presenting with progressive spasticity

NEUROLOGY 68 (2007); S. 791-792

Rujescu D., Meisenzahl E.M., Krejcova S., Giegling I., Zetzsche T., Reiser M., Born C.M., Möller H.-J., Veske A., Gal A., Finckh U.

A human specific haplotype in Plexin B3 is associated with verbal performance and brain white matter volume

Molecular Psychiatry 12 (2007); S. 115

Rujescu D., Meisenzahl E.M.,Krejcova S., Giegling I., Zetzsche T., Reiser M., Born C.M., Möller H.-J., Veske A., Gal A., Finckh U.

Plexin B3 is genetically associated with verbal performance and white matter volume in human brain

Molecular Psychiatry 12 (2007); S. 190-194

Schwan A, JT Epplen

Predictive testing and genetic counselling

Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine, D Ganten, K Ruckpaul (ea); S. 1453-1456

Finckh U.

Genetische Beratung, Gendiagnostik und Risikogene bei der Alzheimer-Demenz

In: mit Demenz verändert. Aldebert H (ed.). EB-Verlag Hamburg (2006); S. 96-110

Finckh U.

Alzheimer’s disease

In: Enzyclopedic Reference of Genomics and Proteomics in Molecular Medicine Vol. 1,Ganten D; S. 49-54

Finckh U.

Genetische Faktoren bei Alzheimer-Demenz. The role of genetics in Alzheimer disease

Deutsches Ärzteblatt 103, Ausgabe 15 vom 14.04. (2006); Seite A-1010-1016 / B-856 / C-826; siehe >hier.

Hartwig C., Gal A., Santer R., Ullrich K., Finckh U., Kreienkamp H.J.

Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro

FEBS Lett 580 (2006); S. 3489-3492

Lucht M., Barnow S., Schroeder W., Grabe H.J., Finckh U., John U., Freyberger H.J., Herrmann F.H.

Negative perceived paternal parenting is associated with dopamine D2 receptor exon 8 and GABA(A) alpha 6 receptor variants: an explorative study

Am J Med Genet B Neuropsychiatr Genet 141 (2006); S. 167-172

Gordon Nareyeck, Michael Zeschnigk, Gabriele Prescher, Dietmar R. Lohmann, Gerasimos Anastassiou, Department of Ophthalmology, University of Duisburg-Essen, Department of Human Genetics, University of Duisburg-Essen, Germany

Establishment and characterization of two uveal melanoma cell lines derived from tumors with loss of one chromosome 3

Experimental Eye Research 83 (2006) S. 858-864

Ýbrahim Ünsal, Arno Fraterman, Iþil Kayýhan, R. Murat Koþer, Ömer Çetin, Eda Yorulmaz, Iþýn Akyar, Çiðdem Kolanci, Nurten Öztürk, Pervin Cekmeceli, Mustafa Serteser Acýbadem Labmed Clinical Laboratories, Istanbul, Turkey

ISO 15189 Accreditation in Medical Laboratories: An Institutional Experience by Acibadem Labmed Clinical Laboratories from Turkey

Poster AACC (2006)

Nareyeck G., Zeschnigk M., Prescher G., Lohmann D.R., Anastassiou G.

Establishment and characterization of two uveal melanoma cell lines derived from tumors with loss of one chromosome

3. Exp Eye Res. 2006 Oct; 83(4);Epub 2006 Jun 5. Review. PMID: 16750193; S. 858-64; www.ncbi.nlm.nih

Meyer T, A Schwan, JS Dullinger, J Brocke, KT Hoffmann, CH Nolte, A Hopt, U Kopp, P Andersen, JT Epplen, P Linke

Early-onset ALS with long-term survival associated with spastin gene mutation

NEUROLOGY 65 (2005); S. 141-143

Alber B, M Pernauer, A Schwan, G Rothmund, KT Hoffmann, D Brummer, AD Sperfeld, I Uttner, H Binder, JT Epplen, J Dullinger, AC Ludolph, T Meyer

Spastin related hereditary spastic paraplegia with dysplastic corpus callosum

J NEUROL SCI 236 (2005), S. 9-12

Hartwig C., Veske A., Krejcova S., Rosenberger G., Finckh U.

Plexin B3 promotes neurite outgrowth, interacts homophilically, and interacts with Rin

BMC Neurosci 6 (2005), S. 53; www.biomedcentral.com/1471-2202/6/53

Zuhlke C., Dalski A, Schwinger E., Finckh U.

Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.

BMC Med Genet 6 (2005); S. 27; www.biomedcentral.com/1471-2350/6/27[/linkextern

J. R. Novotny, U. Schmücker, B. Staats, U. Dührsen

Failed or inadequate bone marrow aspiration: a fast, simple and cost-effective method to produce a cell suspension from a core biopsy specimen

Clinical and Laboratory Haematology (2005) 27 (1); S. 33-40

U. Demme, J. Becker, H. Bussemas, F. Erdmann, M. Erkens, P.X. Iten, H. Käferstein, J.K. Lusthoff, H.J. Magerl, L.v.Meyer, A. Reiter, A. Schmoldt, E. Schneider, H.W. Schütz, Th. Stimpfl, F. Tarbah, J. Teske, W. Vycudilik, J.P. Weller and W. Wei

Systematic evaluation of 1-chlorobutane for liquid-liquid extraction of drugs

TIAFT "43 International Meeting (Seoul Korea) 29. August (2005)

Norbert Ostendorf, Thomas Glosemeyer-Allhoff, Katrin Schauerte, Raina Yamamoto

Hemoglobin (Hb) Stanleyville II Causes Gross Overestimation of the Hb A1c Proportion in Routine HPLC.

Clinical Chemistry 51, No 9 (2005); S. 1752-1754

Ulrich Finckh, Christian Kuschel, Maria Anagnostouli, Efstratios Patsouris, George V. Pantes, Stylianos Gatzonis. Elisabeth Kapaki, Panagiota Davaki, Katrin Lamszus, Dimitrios Stavrou, Andreas Gal

Novel mutations and repeated findings of mutations in familial Alzheimer disease.

Neurogenetics 6 (2005); S. 85-89

Mühlbauer E., Wolgast S., Finckh U., Peschke D., Peschke E.

Indication of circadian oscillations in the rat pancreas

FEBS Lett 564 (2004); S. 91-96

Günther C., von Hadeln K., Müller-Thomsen T., Alberici A., Binetti G., Hock C., Nitsch R.M., Stoppe G., Reiss J., Gal A., Finckh U.

Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease

Neurosci Lett 369 (2004); S. 219-223

Finckh U., Hock C., Nitsch R.M.

Die Alzheimer-Krankheit: Molekulare Grundlagen und Therapieansätze

In: Handbuch der molekularen Medizin, Band 13: Molekularmedizinische Grundlagen von altersspezifisch; S. 148-179

Fraterman Arno

ISO 18812 - a worldwide standard for the online-connection of analytical instruments to laboratory information systems

Clin Lab.; 50(3-4), 2004; S. 205-208

Léon von Brasch, Chuanbing Zang, Thomas Haverkamp, Horst Schlechte, Herbert Heckers, Petro E. Petrides

Molecular analysis of acute intermittent porphyria: mutation screening in 20 patients in Germany reveals 11 novel mutations.

Blood Cells, Molecules and Diseases 32 (2004); S. 309-314

Schwan A, JT Epplen

Prädiktive Beratung bei Risikopersonen für Chorea Huntington

PATIENTENAUFKLÄRUNG BEI GENETISCHEM RISIKO, v H-M Sass, P Schröder (eds) Lit, Münster (2; S. 139-146

Bouloux PM, Nieschlag E, Burger HG, Skakkebaek NE, Wu FC, Handelsman DJ, Baker GH, Ochsenkuehn R, Syska A (Schwan A), McLachlan RI, Giwercman A, Conway AJ, Turner L, van Kuijk JH, Voortman G.

Induction of spermatogenesis by recombinant follicle-stimulating hormone (puregon) in hypogonadotropic azoospermic men who failed to respond to human chorionic gonadotropin alone

J ANDROL. 24 (2003); S. 604-611

Ganzer S., Arlt S., Schoder V., Buhmann C., Mandelkow E.-V., Finckh U., Beisiegel U., Naber D., Müller-Thomsen T.

CSF-tau, CSF-Aß1-42, ApoE-genotype and clinical parameters in the diagnosis of Alzheimer’s disease: Combination of CSF-tau and MMSE yields highest sensitivity and specificity

J Neural Transm 110 (2003); S. 1149-1160

Benussi L., Ghidoni R., Steinhoff T., Alberici A.,Villa A., Mazzoli F., Nicosia F., Barbiero L., Broglio L., Feudatari E., Signorini S., Finckh U., Nitsch R.M., Binetti G.

Alzheimer disease-associated cystatin C variant undergoes impaired secretion

Neurobiol Dis 13 (2003); S. 15-21

Finckh U., v. Hadeln K., Müller-Thomsen T., Alberici A., Binetti G., Hock C., Nitsch R.M., Stoppe G., Reiss J., Gal A.

Association of late-onset Alzheimer disease with a genotype of PLAU, the gene encoding urokinase-type plasminogen activator on chromosome 10q22.2

Neurogenetics 4 (2003); S. 213-217

Rosenberger P., Muhlbauer E., Weissmuller T., Rommelspacher H., Sinha P., Wernecke K.D., Finckh U., Rettig J., Kox W.J., Spies C.D.

Decreased proopiomelanocortin mRNA in lymphocytes of chronic alcoholics after intravenous human corticotropin releasing factor injection

Alcohol Clin Exp Res 27 (2003); S. 1693-700

Finckh U.

The future of genetic association studies in Alzheimer disease (invited review)

J Neural Transm 110 (2003); S. 253-266

F. Levin und W. Baier

Reagenziengemisch zur Albuminbestimmung in biologischen Flüssigkeiten, vorzugsweise in Urin.

Deutsches Patent- und Markenamt, München Gebrauchsmuster Nr. 203 15 345.6 / 11.12. (2003)

Baier W., Kunz C.

Oligosaccharide in Frauenmilch und deren Bedeutung in der Säuglingsernährung

Pädiat. Praxis 63 (2003), S. 35-44

Bussemas, Heinz H.

HPLC-Systeme. Bewährte Technik in Laboratorien. (Marktübersicht)

LABO - Magazin für Labortechnik + Life Sciences, September 9 (2003); S. 9 - 16

Repp R., Schaekel U., Helm G., Thiede C. Soucek S., Pascheberg U., Wandt H., Aulitzky W., Bodenstein H., Sonnen R., Link H., Ehninger G., Gramatzki M.R.

Immunophenotyping is an independent factor for risk stratification in AML

Cytometry 53B(1) (2003); S. 11-9