Publications of K. Hoffmann

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

Graul-Neumann, L. M.; Kienitz, T.; Robinson, P. N.; Baasanjav, S.; Karow, B.; Gillessen-Kaesbach, G.; Fahsold, R.; Schmidt, H.; Hoffmann, K.; Passarge, E.: 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), pp. 2749 - 2755 (2010)

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

Weise, A.; Timmermann, B.; Grabherr, M.; Werber, M.; Heyn, P.; Kosyakova, N.; Liehr, T.; Neitzel, H.; Konrat, K.; Bommer, C. et al.; Dietrich, C.; Rajab, A.; Reinhardt, R.; Mundlos, S.; Lindner, T. H.; Hoffmann, K.: High-throughput sequencing of microdissected chromosomal regions. European Journal of Human Genetics, ejhg.2009.196, pp. 1 - 6 (2009)

Türkmen, S.; Guo, G.; Garshasbi, M.; Hoffmann, K.; Alshalah, A. J.; Mischung, C.; Kuss, A.; Humphrey, N.; Mundlos, S.; Robinson, P. N.: CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait. PLoS Genetics 5, p. e1000487 - e1000487 (2009)

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

Michalk1, A.; Stricker, S.; Becker, J.; Rupps, R.; Pantzar, T.; Miertus, J.; Botta, G.; Naretto, V. G.; Janetzki, C.; Yaqoob, N. et al.; Ott, C.-E.; Seelow, D.; Wieczorek, D.; Fiebig, B.; Wirth, B.; Hoopmann, M.; Walther, M.; Körber, F.; Blankenburg, M.; Mundlos, S.; Heller, R.; Hoffmann, K.: Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. The American Journal of Human Genetics, 82 (2), pp. 464 - 476 (2008)

Hoffmann, K.; Müller, J. S.; Stricker, S.; Megarbane, A.; Rajab, A.; Lindner, T. H.; Cohen, M.; Chouery, E.; Adaimy, L.; Ghanem, I. et al.; Delague, V.; Boltshauser, E.; Talim, B.; Horvath, R.; Robinson, P. N.; Lochmüller, H.; Hübner, C.; Mundlos, S.: 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), pp. 303 - 312 (2006)

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

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

Shultz, L. D.; Lyons, B. L.; Burzenski, L. M.; Gott, B.; Samuels, R.; Schweitzer, P. A.; Dreger, C.; Herrmann, H.; Kalscheuer, V.; Olins, A. L. et al.; Olins, D. E.; Sperling, K.; Hoffmann, K.: 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), pp. 61 - 69 (2003)