Publikationen von K. Hoffmann

S. Baasanjav, L. Al-Gazali, T. Hashiguchi, S. Mizumoto, B. Fischer, D. Horn, D. Seelow, B. R. Ali, S. A. Aziz, R. Langer, A. A. Saleh, C. Becker, G. Nurnberg, V. Cantagrel, J. G. Gleeson, D. Gomez, J. B. Michel, S. Stricker, T. H. Lindner, P. Nurnberg, K. Sugahara, S. Mundlos, and K. Hoffmann, "Faulty initiation of proteoglycan synthesis causes cardiac and joint defects," Am J Hum Genet 89 (1), 15-27 (2011).

L. M. Graul-Neumann, T. Kienitz, P. N. Robinson, S. Baasanjav, B. Karow, G. Gillessen-Kaesbach, R. Fahsold, H. Schmidt, K. Hoffmann, and E. Passarge, "Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.," American Journal of Medical Genetics Part A 152A (11), 2749-2755 (2010).

P. Clayton, B. Fischer, A. Mann, S. Mansour, E. Rossier, M. Veen, C. Lang, S. Baasanjav, M. Kieslich, K. Brossuleit, S. Gravemann, N. Schnipper, M. Karbasyian, I. Demuth, M. Zwerger, A. Vaya, G. Utermann, S. Mundlos, S. Stricker, K. Sperling, and K. Hoffmann, "Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.," Nucleus 1 (4), 354-366 (2010).

Anja Weise, Bernd Timmermann, Manfred Grabherr, Martin Werber, Patricia Heyn, Nadezdaa Kosyakova, Thomas Liehr, Heidemarie Neitzel, Kateryna Konrat, Christiane Bommer, Carola Dietrich, Anna Rajab, Richard Reinhardt, Stefan Mundlos, Tom H. Lindner, and Katrin Hoffmann, "High-throughput sequencing of microdissected chromosomal regions.," European Journal of Human Genetics , 1-6 (2009).

Seval Türkmen, Gao Guo, Masoud Garshasbi, Katrin Hoffmann, Amjad J. Alshalah, Claudia Mischung, Andreas Kuss, Nicholas Humphrey, Stefan Mundlos, and Peter N. Robinson, "CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait," PLoS Genetics 5, e1000487-e1000487 (2009).

Anna Rajab, U. Kornak, B. S. Budde, K. Hoffmann, J. Jaeken, P. Nürnberg, and S. Mundlos, "Geroderma osteodysplasticum and wrinkly skin syndrome in 22 patients from Oman," American Journal of Medical Genetics Part A 146A (8), 965-976 (2008).

Anne Michalk1, Sigmar Stricker, Jutta Becker, Rosemarie Rupps, Tapio Pantzar, Jan Miertus, Giovanni Botta, Valeria G. Naretto, Catrin Janetzki, Nausheen Yaqoob, Claus-Eric Ott, Dominik Seelow, Dagmar Wieczorek, Britta Fiebig, Brunhilde Wirth, Markus Hoopmann, Marisa Walther, Friederike Körber, Markus Blankenburg, Stefan Mundlos, Raoul Heller, and Katrin Hoffmann, "Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders," The American Journal of Human Genetics, 82 (2), 464-476 (2008).

Katrin Hoffmann, Juliane S. Müller, Sigmar Stricker, Andre Megarbane, Anna Rajab, Tom H. Lindner, Monika Cohen, Eliane Chouery, Lynn Adaimy, Ismat Ghanem, Valerie Delague, Eugen Boltshauser, Beril Talim, Rita Horvath, Peter N. Robinson, Hanns Lochmüller, Christoph Hübner, and Stefan Mundlos, "Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit," American Journal of Human Genetics (Chicago, IL) 79 (2), 303-312 (2006).

S. Türkmen, O. Demirhan, K. Hoffmann, A. Diers, C. Zimmer, K. Sperling, and S. Mundlos, "Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p," Journal of Medical Genetics 43 (5), 461-464 (2006).

U. Resch-Genger, K. Hoffmann, W. Nietfeld, A. Engel, J. Neukammer, R. Nitschke, P. Ebert, and R. Macdonald, "How to improve quality assurance in fluorometry: fluorescence-inherent sources of error and suited fluorescence standards," Journal of Fluorescence 15 (3), 337-362 (2005).

Leonhard D. Shultz, Bonnie L. Lyons, Lisa M. Burzenski, Bruce Gott, Rebecca Samuels, Peter A. Schweitzer, Christine Dreger, Harald Herrmann, Vera Kalscheuer, Ada L. Olins, Donald E. Olins, Karl Sperling, and Katrin Hoffmann, "Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly," Human Molecular Genetics 12 (1), 61-69 (2003).