27.09.2022

Archive

Archived publications

older then 10 years

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

August 2011

Author(s): Nieuwenhuis MH, Vogt S, Jones N, Nielsen M, Hes FJ, Sampson JR, Aretz S, Vasen HF

Evidence for accelerated colorectal adenoma-carcinoma progression in MUTYH-associated polyposis?

Published: The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, the Netherlands. Gut. 2012 May;61(5):734-8. doi: 10.1136/gut.2010.229104. Epub 2011 Aug 16.

March 2011

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

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

November 2010

Author(s): Nielsen M, van Steenbergen LN, Jones N, Vogt S, Vasen HF, Morreau H, Aretz S, Sampson JR, Dekkers OM, Janssen-Heijnen ML, Hes FJ

Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients

Published: Journal of the National Cancer Institute/ J Natl Cancer Inst. 2010 Nov 17;102(22):1724-30. doi: 10.1093/jnci/djq370. Epub 2010 Nov 2.

July 2010

Author(s): N. Jones, M. Nielsen, M.C. Joerink-van de Beld, S. Vogt, C.M. Tops, H.F.A. Vasen, F.J. Hes, S. Aretz, J. R. Sampson

MUTYH-associated polyposis

Published: In: Rodriguez-Bigas MA, Cutait R, Lynch PM, Tomlinson I, Vasen HF (eds): Hereditary Colorectal Cancer. Springer Verlag, 2010, 349-364.

June 2010

Author(s): 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.

Published: Circ Cardiovasc Genet 2010 3: 374-385.

Archived publications

before 2003

Publications before 2003: Download here; 299 KB pdf

Current publications

Publications of the last 10 years

Archive

Archived publications

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

Evidence for accelerated colorectal adenoma-carcinoma progression in MUTYH-associated polyposis?

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.

Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients

MUTYH-associated polyposis

Gain-of-Function Mutations in TRPM4 Cause Autosomal Dominant Isolated Cardiac Conduction Disease.

Archived publications

Current publications

House 1

Laboratoriumsmedizin, Humangenetik

Laboratoriumsmedizin Dortmund

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