Heterozygous Mutation within a Kinase-Conserved Motif of the Insulin-Like Growth Factor I Receptor Causes Intrauterine and Postnatal Growth Retardation

par Kruis, Tassilo, Klammt, Jürgen, Galli-Tsinopoulou, Assimina, Wallborn, Tillmann, Schlicke, Marina, Müller, Eva, Kratzsch, Jürgen, Körner, Antje, Odeh, Rasha, Kiess, Wieland, Pfäffle, Roland
Publié dans Mol Endocrinol (2010)

Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency

par Breitfeld, Jana, Martens, Susanne, Klammt, Jürgen, Schlicke, Marina, Pfäffle, Roland, Krause, Kerstin, Weidle, Kerstin, Schleinitz, Dorit, Stumvoll, Michael, Führer, Dagmar, Kovacs, Peter, Tönjes, Anke
Publié 2013

A Heterozygous Mutation of the Insulin-Like Growth Factor-I Receptor Causes Retention of the Nascent Protein in the Endoplasmic Reticulum and Results in Intrauterine and Postnatal...

par Wallborn, Tillmann, Wüller, Stefan, Klammt, Jürgen, Kruis, Tassilo, Kratzsch, Jürgen, Schmidt, Gabriele, Schlicke, Marina, Müller, Eva, Schmitz van de Leur, Hildegard, Kiess, Wieland, Pfäffle, Roland
Publié dans Mol Endocrinol (2010)

IGF1R Gene Alterations in Children Born Small for Gestitional Age (SGA)

par Janchevska, Aleksandra, Krstevska-Konstantinova, Marina, Pfäffle, Heike, Schlicke, Marina, Laban, Nevenka, Tasic, Velibor, Gucev, Zoran, Mironska, Kristina, Dimovski, Aleksandar, Kratzsch, Jürgen, Klammt, Jürgen, Pfäffle, Roland
Publié dans Open Access Maced J Med Sci (2018)

Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes

par Bertko, Eleonore, Klammt, Jürgen, Dusatkova, Petra, Bahceci, Mithat, Gonc, Nazli, ten Have, Louise, Kandemir, Nurgun, Mansmann, Georg, Obermannova, Barbora, Oostdijk, Wilma, Pfäffle, Heike, Rockstroh-Lippold, Denise, Schlicke, Marina, Tuzcu, Alpaslan Kemal, Pfäffle, Roland
Publié dans J Hum Genet (2017)