Effect of the G72 (DAOA) putative risk haplotype on cognitive functions in healthy subjects (2009)
Jansen, Andreas, Krach, Sören, Krug, Axel, Markov, Valentin, Eggermann, Thomas, Zerres, Klaus, ...
Abstract Background In the last years, several susceptibility genes for psychiatric disorders have been identified, among others G72 (also named D-amino acid oxidase activator, DAOA). Typically, the...
No evidence for a role of cosmc-chaperone mutations in European IgA nephropathy patients (2009)
Malycha, Friederike, Eggermann, Thomas, Hristov, Mihail, Schena, Francesco Paolo, Mertens, Peter R., Zerres, Klaus, ...
Background. Altered IgA1 galactosylation is involved in the pathogenesis of IgA nephropathy (IgAN). The galactosyltransferase core-1 beta3-galactosyltransferase-1 (C1GALT1) and its chaperone cosmc...
Wiesmüller, Gerhard A., Niggemann, Hiltrud, Weissbach, Wibke, Riley, Felix, Maarouf, Zackaria, Dott, Wolfgang, ...
Schröder, Rolf, Goudeau, Bertrand, Simon, Monique Casteras, Fischer, Dirk, Eggermann, Thomas, Clemen, Christoph S., ...
Gamerdinger, Ulrike, Bosse, Kristin, Eggermann, Thomas, Kalscheuer, Vera M., Schwanitz, Gesa, Engels, Hartmut
We present a 1-year-old boy with mild mental retardation, postnatal growth retardation, and facial dysmorphisms such as frontal bossing, laterally accentuated bushy eyebrows, deep set eyes with long...
Bergmann, Carsten, Zerres, Klaus, Senderek, Jan, Rudnik-Schöneborn, Sabine, Eggermann, Thomas, Häusler, Martin, ...
We identified an oligophrenin 1 (OPHN1) gene mutation in a family with five brothers affected by a recognizable pattern of clinical and neuroradiological hallmarks. The distinctive phenotype...
Schröder, Rolf, Goudeau, Bertrand, Simon, Monique Casteras, Fischer, Dirk, Eggermann, Thomas, Clemen, Christoph S., ...
Recent studies in desmin (−/−) mice have shown that the targeted ablation of desmin leads to pathological changes of the extrasarcomeric intermediate filament cytoskeleton, as well as...
Bergmann, Carsten, Zerres, Klaus, Senderek, Jan, Rudnik-Schöneborn, Sabine, Eggermann, Thomas, Häusler, Martin, ...
We identified an oligophrenin 1 (OPHN1) gene mutation in a family with five brothers affected by a recognizable pattern of clinical and neuroradiological hallmarks. The distinctive phenotype...
Bergmann, Carsten, Zerres, Klaus, Senderek, Jan, Rudnik-Schöneborn, Sabine, Eggermann, Thomas, Häusler, Martin, ...
We identified an oligophrenin 1 (OPHN1) gene mutation in a family with five brothers affected by a recognizable pattern of clinical and neuroradiological hallmarks. The distinctive phenotype...
Onuchic, Luiz F., Furu, Laszlo, Nagasawa, Yasuyuki, Hou, Xiaoying, Eggermann, Thomas, Ren, Zhiyong, ...
Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that presents primarily in infancy and childhood and that is characterized by enlarged kidneys and...
Molekulargenetische Untersuchungen zur Entstehung der Trisomie 18 / (1995)
Bonn, Univ., Diss., 1995 (Nicht für den Austausch).
Luminal Heterodimeric Amino Acid Transporter Defective in Cystinuria
Pfeiffer, Rahel, Loffing, Jan, Rossier, Grégoire, Bauch, Christian, Meier, Christian, Eggermann, Thomas, ...
Mutations of the glycoprotein rBAT cause cystinuria type I, an autosomal recessive failure of dibasic amino acid transport (b0,+ type) across luminal membranes of intestine and kidney cells. Here we...
Mergenthaler, Susanne, Hitchins, Megan P., Blagitko-Dorfs, Nadya, Monk, David, Wollmann, Hartmut A., Ranke, Michael B., ...
Luminal Heterodimeric Amino Acid Transporter Defective in Cystinuria
Pfeiffer, Rahel, Loffing, Jan, Rossier, Grégoire, Bauch, Christian, Meier, Christian, Eggermann, Thomas, ...
Mutations of the glycoprotein rBAT cause cystinuria type I, an autosomal recessive failure of dibasic amino acid transport (b0,+ type) across luminal membranes of intestine and kidney cells. Here we...
Onuchic, Luiz F., Furu, Laszlo, Nagasawa, Yasuyuki, Hou, Xiaoying, Eggermann, Thomas, Ren, Zhiyong, ...
Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that presents primarily in infancy and childhood and that is characterized by enlarged kidneys and...