Genetics of Growth Disorders—Which Patients Require Genetic Testing?

por Argente, Jesús, Tatton-Brown, Katrina, Lehwalder, Dagmar, Pfäffle, Roland
Publicado 2019

Ten years’ clinical experience with biosimilar human growth hormone: a review of efficacy data

por López-Siguero, Juan Pedro, Pfäffle, Roland, Chanson, Philippe, Szalecki, Mieczyslaw, Höbel, Nadja, Zabransky, Markus
Publicado 2017

Early Growth Hormone Initiation Leads to Favorable Long-Term Growth Outcomes in Children Born Small for Gestational Age

por Juul, Anders, Backeljauw, Philippe, Cappa, Marco, Pietropoli, Alberto, Kelepouris, Nicky, Linglart, Agnès, Pfäffle, Roland, Geffner, Mitchell
Publicado 2022

Evolving pituitary hormone deficits in primarily isolated GHD: a review and experts’ consensus

por Binder, Gerhard, Schnabel, Dirk, Reinehr, Thomas, Pfäffle, Roland, Dörr, Helmuth-Günther, Bettendorf, Markus, Hauffa, Berthold, Woelfle, Joachim
Publicado 2020

Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation

por Hoppmann, Julia, Gesing, Julia, Silve, Caroline, Leroy, Chrystel, Bertsche, Astrid, Hirsch, Franz Wolfgang, Kiess, Wieland, Pfäffle, Roland, Schuster, Volker
Publicado 2017

Important Tools for Use by Pediatric Endocrinologists in the Assessment of Short Stature

por Labarta, José I., Ranke, Michael B., Maghnie, Mohamad, Martin, David, Guazzarotti, Laura, Pfäffle, Roland, Koledova, Ekaterina, Wit, Jan M.
Publicado 2021

Age- and weight group-specific weight gain patterns in children and adolescents during the 15 years before and during the COVID-19 pandemic

por Vogel, Mandy, Geserick, Mandy, Gausche, Ruth, Beger, Christoph, Poulain, Tanja, Meigen, Christof, Körner, Antje, Keller, Eberhard, Kiess, Wieland, Pfäffle, Roland
Publicado 2021

Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation

por Müller, Eva, Dunstheimer, Desiree, Klammt, Jürgen, Friebe, Daniela, Kiess, Wieland, Kratzsch, Jürgen, Kruis, Tassilo, Laue, Sandy, Pfäffle, Roland, Wallborn, Tillmann, Heidemann, Peter H.
Publicado 2012

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

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 2018

Dynamic alterations in linear growth and endocrine parameters in children with obesity and height reference values

por Kempf, Elena, Vogel, Mandy, Vogel, Tim, Kratzsch, Jürgen, Landgraf, Kathrin, Kühnapfel, Andreas, Gausche, Ruth, Gräfe, Daniel, Sergeyev, Elena, Pfäffle, Roland, Kiess, Wieland, Stanik, Juraj, Körner, Antje
Publicado 2021

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 2017

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

por Klammt, Jürgen, Neumann, David, Gevers, Evelien F., Andrew, Shayne F., Schwartz, I. David, Rockstroh, Denise, Colombo, Roberto, Sanchez, Marco A., Vokurkova, Doris, Kowalczyk, Julia, Metherell, Louise A., Rosenfeld, Ron G., Pfäffle, Roland, Dattani, Mehul T., Dauber, Andrew, Hwa, Vivian
Publicado 2018

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes

por Blum, Werner F., Klammt, Jürgen, Amselem, Serge, Pfäffle, Heike M., Legendre, Marie, Sobrier, Marie-Laure, Luton, Marie-Pierre, Child, Christopher J., Jones, Christine, Zimmermann, Alan G., Quigley, Charmian A., Cutler, Gordon B., Deal, Cheri L., Lebl, Jan, Rosenfeld, Ron G., Parks, John S., Pfäffle, Roland W.
Publicado 2018

Risk of Meningioma in European Patients Treated With Growth Hormone in Childhood: Results From the SAGhE Cohort

por Swerdlow, Anthony J, Cooke, Rosie, Beckers, Dominique, Butler, Gary, Carel, Jean-Claude, Cianfarani, Stefano, Clayton, Peter, Coste, Joël, Deodati, Annalisa, Ecosse, Emmanuel, Hokken-Koelega, Anita C S, Khan, Aysha J, Kiess, Wieland, Kuehni, Claudia E, Flück, Christa E, Pfaffle, Roland, Sävendahl, Lars, Sommer, Grit, Thomas, Muriel, Tidblad, Anders, Tollerfield, Sally, Zandwijken, Gladys R J
Publicado 2018