De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
Syrbe, Steffen, Hedrich, Ulrike B S, Riesch, Erik, Djémié, Tania, Müller, Stephan, Møller, Rikke S, Maher, Bridget, Hernandez-Hernandez, Laura, Synofzik, Matthis, Caglayan, Hande S, Arslan, Mutluay, Serratosa, José M, Nothnagel, Michael, May, Patrick, Krause, Roland, Löffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Krämer, Günter, Schöls, Ludger, Mullis, Primus E, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C, Hoffman-Zacharska, Dorota, Korff, Christian M, Weber, Yvonne G, Steinlin, Maja, Gallati, Sabina, Bertsche, Astrid, Bernhard, Matthias K, Merkenschlager, Andreas, Kiess, Wieland, Gonzalez, Michael, Züchner, Stephan, Palotie, Aarno, Suls, Arvid, De Jonghe, Peter, Helbig, Ingo, Biskup, Saskia, Wolff, Markus, Maljevic, Snezana, Schüle, Rebecca, Sisodiya, Sanjay M, Weckhuysen, Sarah, Lerche, Holger, Lemke, Johannes R
Published in Nature genetics (01.04.2015)
Published in Nature genetics (01.04.2015)
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Journal Article
Cancer Risks in Patients Treated With Growth Hormone in Childhood: The SAGhE European Cohort Study
Swerdlow, Anthony J., Cooke, Rosie, Beckers, Dominique, Borgström, Birgit, Butler, Gary, Carel, Jean-Claude, Cianfarani, Stefano, Clayton, Peter, Coste, Joël, Deodati, Annalisa, Ecosse, Emmanuel, Gausche, Ruth, Giacomozzi, Claudio, Hokken-Koelega, Anita C.S., Khan, Aysha J., Kiess, Wieland, Kuehni, Claudia E., Mullis, Primus-E., Pfaffle, Roland, Sävendahl, Lars, Sommer, Grit, Thomas, Muriel, Tidblad, Anders, Tollerfield, Sally, Van Eycken, Liesbet, Zandwijken, Gladys R.J.
Published in The journal of clinical endocrinology and metabolism (01.05.2017)
Published in The journal of clinical endocrinology and metabolism (01.05.2017)
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Journal Article
Butyrate increases intracellular calcium levels and enhances growth hormone release from rat anterior pituitary cells via the G-protein-coupled receptors GPR41 and 43
Miletta, Maria Consolata, Petkovic, Vibor, Eblé, Andrée, Ammann, Roland A, Flück, Christa E, Mullis, Primus-E
Published in PloS one (13.10.2014)
Published in PloS one (13.10.2014)
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Journal Article
Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia
Flück, Christa E, Pandey, Amit V, Dick, Bernhard, Camats, Núria, Fernández-Cancio, Mónica, Clemente, María, Gussinyé, Miquel, Carrascosa, Antonio, Mullis, Primus E, Audi, Laura
Published in PloS one (27.05.2011)
Published in PloS one (27.05.2011)
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Journal Article
Differential regulation of human 3β-hydroxysteroid dehydrogenase type 2 for steroid hormone biosynthesis by starvation and cyclic AMP stimulation: studies in the human adrenal NCI-H295R cell model
Udhane, Sameer, Kempna, Petra, Hofer, Gaby, Mullis, Primus E, Flück, Christa E
Published in PloS one (09.07.2013)
Published in PloS one (09.07.2013)
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Journal Article
Targeting GH-1 splicing as a novel pharmacological strategy for growth hormone deficiency type II
Miletta, Maria Consolata, Flück, Christa E., Mullis, Primus-E.
Published in Biochemical pharmacology (15.01.2017)
Published in Biochemical pharmacology (15.01.2017)
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Journal Article
A 2-year multicentre, open-label, randomized, controlled study of growth hormone (Genotropin®) treatment in very young children born small for gestational age: Early Growth and Neurodevelopment (EGN) Study
De Schepper, Jean, Vanderfaeillie, Johan, Mullis, Primus-E., Rooman, Raoul, Robertson, Anna, Dilleen, Maria, Gomez, Roy, Wollmann, Hartmut A.
Published in Clinical endocrinology (Oxford) (01.03.2016)
Published in Clinical endocrinology (Oxford) (01.03.2016)
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Journal Article
Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype
Camats, Núria, Fernández-Cancio, Mónica, Audí, Laura, Mullis, Primus E, Moreno, Francisca, González Casado, Isabel, López-Siguero, Juan Pedro, Corripio, Raquel, Bermúdez de la Vega, José Antonio, Blanco, José Antonio, Flück, Christa E
Published in PloS one (16.11.2015)
Published in PloS one (16.11.2015)
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Journal Article
Metformin Inhibits Human Androgen Production by Regulating Steroidogenic Enzymes HSD3B2 and CYP17A1 and Complex I Activity of the Respiratory Chain
Hirsch, Andrea, Hahn, Dagmar, Kempná, Petra, Hofer, Gaby, Nuoffer, Jean-Marc, Mullis, Primus E, Flück, Christa E
Published in Endocrinology (Philadelphia) (01.09.2012)
Published in Endocrinology (Philadelphia) (01.09.2012)
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Journal Article
IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion
Miletta, Maria Consolata, Eblé, Andrée, Janner, Marco, Parween, Shaheena, Pandey, Amit V, Flück, Christa E, Mullis, Primus-E
Published in The journal of clinical endocrinology and metabolism (01.12.2015)
Published in The journal of clinical endocrinology and metabolism (01.12.2015)
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Journal Article
Circadian and ultradian cardiovascular rhythmicity in obese children
Saner, Christoph, Simonetti, Giacomo D., Wühl, Elke, Mullis, Primus E., Janner, Marco
Published in European journal of pediatrics (01.08.2016)
Published in European journal of pediatrics (01.08.2016)
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Journal Article
Increased ambulatory arterial stiffness index in obese children
Saner, Christoph, Simonetti, Giacomo D, Wühl, Elke, Mullis, Primus E, Janner, Marco
Published in Atherosclerosis (01.02.2015)
Published in Atherosclerosis (01.02.2015)
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Journal Article
Role of AMP-activated protein kinase on steroid hormone biosynthesis in adrenal NCI-H295R cells
Hirsch, Andrea, Hahn, Dagmar, Kempná, Petra, Hofer, Gaby, Mullis, Primus E, Nuoffer, Jean-Marc, Flück, Christa E
Published in PloS one (25.01.2012)
Published in PloS one (25.01.2012)
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Journal Article
Human 3β-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature
Burckhardt, Marie-Anne, Udhane, Sameer S, Marti, Nesa, Schnyder, Isabelle, Tapia, Coya, Nielsen, John E, Mullis, Primus E, Rajpert-De Meyts, Ewa, Flück, Christa E
Published in European journal of endocrinology (01.11.2015)
Published in European journal of endocrinology (01.11.2015)
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Journal Article
Description of the SAGhE Cohort: A Large European Study of Mortality and Cancer Incidence Risks after Childhood Treatment with Recombinant Growth Hormone
Swerdlow, Anthony J., Cooke, Rosie, Albertsson-Wikland, Kerstin, Borgström, Birgit, Butler, Gary, Cianfarani, Stefano, Clayton, Peter, Coste, Joël, Deodati, Annalisa, Ecosse, Emmanuel, Gausche, Ruth, Giacomozzi, Claudio, Kiess, Wieland, Hokken-Koelega, Anita C.S., Kuehni, Claudia E., Landier, Fabienne, Maes, Marc, Mullis, Primus-E., Pfaffle, Roland, Sävendahl, Lars, Sommer, Grit, Thomas, Muriel, Tollerfield, Sally, Zandwijken, Gladys R.J., Carel, Jean-Claude
Published in Hormone research in paediatrics (01.01.2015)
Published in Hormone research in paediatrics (01.01.2015)
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