High Prevalence of PROP1 Defects in Lithuania: Phenotypic Findings in an Ethnically Homogenous Cohort of Patients With Multiple Pituitary Hormone Deficiency
Navardauskaite, Ruta, Dusatkova, Petra, Obermannova, Barbora, Pfaeffle, Roland W, Blum, Werner F, Adukauskiene, Dalia, Smetanina, Natalija, Cinek, Ondrej, Verkauskiene, Rasa, Lebl, Jan
Published in The journal of clinical endocrinology and metabolism (01.01.2014)
Published in The journal of clinical endocrinology and metabolism (01.01.2014)
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The Growth Response to Growth Hormone (GH) Treatment in Children with Isolated GH Deficiency Is Independent of the Presence of the Exon 3-Minus Isoform of the GH Receptor
Blum, Werner F., Machinis, Kalotina, Shavrikova, Elena P., Keller, Alexandra, Stobbe, Heike, Pfaeffle, Roland W., Amselem, Serge
Published in The journal of clinical endocrinology and metabolism (01.10.2006)
Published in The journal of clinical endocrinology and metabolism (01.10.2006)
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Three Novel Missense Mutations within the LHX4 Gene Are Associated with Variable Pituitary Hormone Deficiencies
Pfaeffle, Roland W., Hunter, Chad S., Savage, Jesse J., Duran-Prado, Mario, Mullen, Rachel D., Neeb, Zachary P., Eiholzer, Urs, Hesse, Volker, Haddad, Nadine G., Stobbe, Heike M., Blum, Werner F., Weigel, Johannes F. W., Rhodes, Simon J.
Published in The journal of clinical endocrinology and metabolism (01.03.2008)
Published in The journal of clinical endocrinology and metabolism (01.03.2008)
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Four Novel Mutations of the LHX3 Gene Cause Combined Pituitary Hormone Deficiencies with or without Limited Neck Rotation
Pfaeffle, Roland W., Savage, Jesse J., Hunter, Chad S., Palme, Christina, Ahlmann, Martina, Kumar, Prasanna, Bellone, Jaele, Schoenau, Eckhard, Korsch, Eckhard, Brämswig, Jürgen H., Stobbe, Heike M., Blum, Werner F., Rhodes, Simon J.
Published in The journal of clinical endocrinology and metabolism (01.05.2007)
Published in The journal of clinical endocrinology and metabolism (01.05.2007)
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Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects
Lebl, Jan, Vosáhlo, Jan, Pfaeffle, Roland W, Stobbe, Heike, Černá, Jana, Novotná, Dana, Zapletalová, Jiřina, Kalvachová, Božena, Hána, Václav, Weiss, Vladimír, Blum, Werner F
Published in European journal of endocrinology (01.09.2005)
Published in European journal of endocrinology (01.09.2005)
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LHX3 and LHX4 transcription factors in pituitary development and disease
Colvin, Stephanie C, Mullen, Rachel D, Pfaeffle, Roland W, Rhodes, Simon J
Published in Pediatric endocrinology reviews : PER (01.01.2009)
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Published in Pediatric endocrinology reviews : PER (01.01.2009)
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Height Gain with Combined Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Two Pubertal Siblings with a Growth Hormone-Releasing Hormone Receptor Mutation
Walenkamp, Marie J. E., Pereira, Alberto M., Oostdijk, Wilma, Stokvis-Brantsma, Wilhelmina H., Pfaeffle, Roland W., Blankenstein, Oliver, Wit, Jan M.
Published in The journal of clinical endocrinology and metabolism (01.01.2008)
Published in The journal of clinical endocrinology and metabolism (01.01.2008)
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Effects of obesity on human sexual development
Wagner, Isabel V., Sabin, Matthew A., Pfäffle, Roland W., Hiemisch, Andreas, Sergeyev, Elena, Körner, Antje, Kiess, Wieland
Published in Nature reviews. Endocrinology (01.04.2012)
Published in Nature reviews. Endocrinology (01.04.2012)
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Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency
Simm, Franziska, Griesbeck, Anne, Choukair, Daniela, Weiß, Birgit, Paramasivam, Nagarajan, Klammt, Jürgen, Schlesner, Matthias, Wiemann, Stefan, Martinez, Cristina, Hoffmann, Georg F., Pfäffle, Roland W., Bettendorf, Markus, Rappold, Gudrun A.
Published in Genetics in medicine (01.07.2018)
Published in Genetics in medicine (01.07.2018)
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A novel FoxD3 Variant Is Associated With Vitiligo and Elevated Thyroid Auto-Antibodies
Schunter, Jo Ana, Löffler, Dennis, Wiesner, Tobias, Kovacs, Peter, Badenhoop, Klaus, Aust, Gabriela, Tönjes, Anke, Müller, Peter, Baber, Ronny, Simon, Jan C, Führer, Dagmar, Pfäffle, Roland W, Thiery, Joachim, Stumvoll, Michael, Kiess, Wieland, Kratzsch, Jürgen, Körner, Antje
Published in The journal of clinical endocrinology and metabolism (01.10.2015)
Published in The journal of clinical endocrinology and metabolism (01.10.2015)
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Associations between Pituitary Imaging Abnormalities and Clinical and Biochemical Phenotypes in Children with Congenital Growth Hormone Deficiency: Data from an International Observational Study
Deal, Cheri, Hasselmann, Caroline, Pfäffle, Roland W., Zimmermann, Alan G., Quigley, Charmian A., Child, Christopher J., Shavrikova, Elena P., Cutler Jr, Gordon B., Blum, Werner F.
Published in Hormone research in paediatrics (01.01.2013)
Published in Hormone research in paediatrics (01.01.2013)
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Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes
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.
Published in EBioMedicine (01.10.2018)
Published in EBioMedicine (01.10.2018)
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PROP1 Mutations Cause Progressive Deterioration of Anterior Pituitary Function including Adrenal Insufficiency: A Longitudinal Analysis
Böttner, Antje, Keller, Eberhard, Kratzsch, Jürgen, Stobbe, Heike, Weigel, Johannes F. W., Keller, Alexandra, Hirsch, Wolfgang, Kiess, Wieland, Blum, Werner F., Pfäffle, Roland W.
Published in The journal of clinical endocrinology and metabolism (01.10.2004)
Published in The journal of clinical endocrinology and metabolism (01.10.2004)
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Roles of the LHX3 and LHX4 LIM-homeodomain factors in pituitary development
Mullen, Rachel D., Colvin, Stephanie C., Hunter, Chad S., Savage, Jesse J., Walvoord, Emily C., Bhangoo, Amrit P.S., Ten, Svetlana, Weigel, Johannes, Pfäffle, Roland W., Rhodes, Simon J.
Published in Molecular and cellular endocrinology (01.02.2007)
Published in Molecular and cellular endocrinology (01.02.2007)
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