Begriffe, Krankheiten, Einrichtungen u.v.m., verknüpft mit dem zuständigen Bereich.
Im Menüpunkt "Übersicht" sind Einrichtungen unter verschiedenen Gesichtspunkten gruppiert: Kliniken, Abteilungen, Institute, Zentrale Einrichtungen und ähnliches.
Ausgewählte Publikationen von FZSE Partnern
Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Alanay A, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry C, Byers P, Eyre D, Lee BH, Merrill AE, Cohn DH, Akarsu N, Krakow D: Mutations in the gene encoding the RER chaperone FKBP65 produce autosomal recessive osteogenesis imperfecta. Am J Hum Genet 2010 (in press)
Fritsch A, Spassov S, Elfert S, Schlosser A, Gache Y, Meneguzzi G, Bruckner-Tuderman L: Dominant negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII. J Biol Chem 284, 30248-56, 2009
Hackanson B, Abdelkarim M, Jansen JH, Lübbert M: NHR4 domain mutations of ETO are probably very infrequent in AML1-ETO positive myeloid leukemia cells. Leukemia. 2010 [Epub ahead of print]
Karow A, Flotho C, Schneider M, Fliegauf M, Niemeyer CM: Mutations of the Shwachman-Bodian-Diamond syndrome (SBDS) gene in patients presenting with refractory cytopenia – do we have to screen? Haematologica 2009 [Epub ahead of print]
Kern JS, Loeckermann S, Fritsch A, Hausser I, Müller ML, Paul O, Ruther P, Bruckner-Tuderman L: Mechanisms of fibroblast cell therapy for dystrophic epidermolysis bullosa: high stability of collagen VII favors long-term skin integrity. Mol Therapy 17, 1605-15, 2009
Kottlors M, Moske-Eick O, Huebner A, Krause S, Mueller K, Kress W, Schwarzwald R, Bornemann A, Haug V, Heitzer M, Kirschner J: Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus J Neurol Sci 2010 [Epub ahead of print]
Lausch E, Keppler R, Hilbert K, Cormier-Daire V, Nikkel S, Nishimura G, Unger S, Spranger J, Superti-Furga A, Zabel B: Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of Metaphyseal Anadysplasia. Am J Hum Genet 85:168-78,2009
Löffek S, Wöll S, Höhfeld J, Leube RE, Has C, Bruckner-Tuderman L, Magin TM: The ubiquitin ligase CHIP targets mutant keratins for degradation. Hum Mutat, Epub ahead of print, Feb 11, 2010
Natsuga K, Nishie W, Akiyama M, Shinkuma S, Nakamura H, McMillan JR, Nagasaki A, Has C, Ouchi T, Ishiko A, Hirako Y, Owaribe K, Sawamura D, Bruckner-Tuderman L, Shimizu H: Plectin expression patterns determine different types of epidermolysis bullosa simplex (EBS) associated with PLEC1 mutations: EBS with muscular dystrophy and EBS with pyloric atresia. Human Mutat 31, 308-316, 2010
Neumann HP, Erlic Z, Boedeker CC, Rybicki LA, Robledo M, Hermsen M, Schiavi F, Falcioni M, Kwok P, Bauters C, Lampe K, Fischer M, Edelman E, Benn DE, Robinson BG, Wiegand S, Rasp G, Stuck BA, Hoffmann MM, Sullivan M, Sevilla MA, Weiss MM, Peczkowska M, Kubaszek A, Pigny P, Ward RL, Learoyd D, Croxson M, Zabolotny D, Yaremchuk S, Draf W, Muresan M, Lorenz RR, Knipping S, Strohm M, Dyckhoff G, Matthias C, Reisch N, Preuss SF, Esser D, Walter MA, Kaftan H, Stöver T, Fottner C, Gorgulla H, Malekpour M, Zarandy MM, Schipper J, Brase C, Glien A, Kühnemund M, Koscielny S, Schwerdtfeger P, Välimäki M, Szyfter W, Finckh U, Zerres K, Cascon A, Opocher G, Ridder GJ, Januszewicz A, Suarez C, Eng C: Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. Cancer Res 69:3650-6,2009
Rohr J, Pannicke U, Döring M, Schmitt-Graeff A, Wiech E, Busch A, Speckmann C, Müller I, Lang P, Handgretinger R, Fisch P, Schwarz K, Ehl S: Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency. J Clin Immunol 2009 [Epub ahead of print]
Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonafé L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR: Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210 N Engl J Med 362:206-16, 2010.
Sass JO, Fischer K, Wang R, Christensen E, Scholl-Bürgi S, Chang R, Kapelari K, Walter M: D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase. Hum Mutat. 2010;31:1280–5
Sommer A, Christensen E, Schwenger S, Seul R, Haas D, Olbrich H, Omran H, Sass JO: The molecular basis of aminoacylase 1 deficiency. Biochim Biophys Acta 2011;1812:685-690
