Archive of publications

February 2014

Author(s): Luedecke D, Becktepe JS, Lehmbeck J, Finckh U, Yamamoto R, Jahn H, Boelmans K.

A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease

Published: Neurosci Lett 566:115-119, 2014. Im Internet bei PubMed NCBI.

January 2014

Author(s): DL Kämpfe, J. Friemann, T. Haverkamp, S. Killburger, B. Schulte, HL Pahl

Cyclic thrombocytosis in a patient with PV resolved by ruxolitinib treatment

Published: HAEMATOLOGICA / 19th congress Mailand 2014, ABSTRACT BOOK, abstract PB1749

September 2013

Author(s): Kehrmann A, Truong H, Repenning A, Boger R, Klein-Hitpass L, Pascheberg U, Beckmann A, Opalka B, Kleine-Lowinski K

Complementation of non-tumorigenicity of HPV18-positive cervical carcinoma cells involves differential mRNA expression of cellular genes including potential tumor suppressor genes on chromosome 11q13

Published: Cancer Genet. 2013 Jul-Aug;206(7-8):279-92. doi: 10.1016/j.cancergen.2013.06.002. Epub 2013 Sep 14.

June 2013

Author(s): Kehrer M, Beckmann A, Wyduba J, Finckh U, Dufke A, Gaiser U, Tzschach A

Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34

Published: Clin Genet. 2013 Jun 13. doi: 10.1111/cge.12199

January 2013

Author(s): C.L. Behnes, C. Schlegel, M. Shoukier, I. Magiera, F. Henschke, A. Schwarz, F. Bremmer, H. Loertzer

Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases.

Published: BMC Urology 2013, 13:3 doi:10.1186/1471-2490-13-3 Der Artikel ist online abrufbar unter biomedcentral.

April 2012

Author(s): Kaden D, Harmeier A, Weise C, Munter LM, Althoff V, Rost BR, Hildebrand PW, Schmitz D, Schaefer M, Lurz R, Skodda S, Yamamoto R, Arlt S, Finckh U, Multhaup G.

Novel APP/Aβ mutation K16N produces highly toxic heteromeric Aβ oligomers.

Published: EMBO Mol Med. 2012 Apr 19. doi: 10.1002/emmm.201200239. Artikel online verfügbar unter EMBO. Molecular Medicine.

April 2012

Author(s): Spier I, Horpaopan S, Vogt S, Uhlhaas S, Morak M, Morak M, Draaken M, Ludwig M, Holinski-Feder E, Nöthen MM, Hoffmann P. Aretz S

Deep intronic APC mutations explain a substantial proportion of patients with familial or early onset adenomatous polyposis.

Published: Human Mutation 2012 Jul;33(7):1045-50. doi: 10.1002/humu.22082. Epub 2012 Apr 16.

April 2012

Author(s): N. Janzen, F. G. Riepe, M. Peter, S. Sander, U. Steuerwald, E. Korsch, F. Krull, H. L. Müller, S. Heger, C. Brack, J. Sander

Neonatal Screening: Identification of Children with 11-Hydroxylase Deficiency by Second-Tier Testing.

Published: Horm Res Paediatr 2012;77:195199

November 2011

Author(s): A. Rüfer, J. P. Howell, A. P. Lange, R. Yamamoto, J. Heuscher, M. Gregor, W. A. Wuillemin

Hyperferritinämie und Eisenmangel eine außergewöhnliche Liaison. Forum Med Suisse 2011; 11(5): 8788.

Published: Artikel online unter www.medicalforum.ch.

September 2011

Author(s): Johannes Zschocke, Thomas Haverkamp, Lisbeth Birk Møller

Clinical utility gene card for: Phenylketonuria

Published: Eur J Hum Genet. 2012 Feb; 20(2) Published online 2011 Sep 14. doi: 10.1038/ejhg.2011.172 PMCID: PMC3260912

Archive

Archived publications

A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease

Cyclic thrombocytosis in a patient with PV resolved by ruxolitinib treatment

Complementation of non-tumorigenicity of HPV18-positive cervical carcinoma cells involves differential mRNA expression of cellular genes including potential tumor suppressor genes on chromosome 11q13

Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34

Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases.

Novel APP/Aβ mutation K16N produces highly toxic heteromeric Aβ oligomers.

Deep intronic APC mutations explain a substantial proportion of patients with familial or early onset adenomatous polyposis.

Neonatal Screening: Identification of Children with 11-Hydroxylase Deficiency by Second-Tier Testing.

Hyperferritinämie und Eisenmangel eine außergewöhnliche Liaison. Forum Med Suisse 2011; 11(5): 8788.

Clinical utility gene card for: Phenylketonuria

Archived publications

Current publications

House 1

Laboratoriumsmedizin

Laboratoriumsmedizin

Humangenetische Sprechstunde

House 2

Mikrobiologie, Infektions-PCR

Mikrobiologie

Infektions-PCR

House 3

Analytik Laboratoriumsmedizin und Humangenetik

House 4 - Hansakontor

Endokrinologie, Diabetologie, Rheumatologie, Humangenetik, Schulungszentrum

Zentrum für Endokrinologie, Diabetologie, Rheumatologie

Humangenetische Sprechstunde

Schulungszentrum des MVZ

House 5 - Triagon Dortmund

Hormon- und Stoffwechselzentrum für Kinder und Jugendliche

Hormonzentrum für Kinder und Jugendliche