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

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

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

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

por 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
Publicado en Mol Endocrinol (2010)

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

por 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
Publicado en Open Access Maced J Med Sci (2018)

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

por 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
Publicado en J Hum Genet (2017)