Mullis, Primus-Eugen

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 Cs; Khan, Aysha J; Kiess, Wieland; Kuehni, Claudia E; Mullis, Primus-Eugen; Pfaffle, Roland; Sävendahl, Lars; ... (2017). Cancer risks in patients treated with growth hormone in childhood: the SAGhE European cohort study. Journal of clinical endocrinology and metabolism, 102(5), pp. 1661-1672. Endocrine Society 10.1210/jc.2016-2046

Miletta, Maria Consolata; Flück, Christa Emma; Mullis, Primus-Eugen (2017). Targeting GH-1 splicing as a novel pharmacological strategy for growth hormone deficiency type II. Biochemical pharmacology, 124, pp. 1-9. Elsevier 10.1016/j.bcp.2016.07.016

Miletta, Maria Consolata; Petkovic, Vibor; Eblé, Andrée; Flück, Christa Emma; Mullis, Primus-Eugen (2016). Rescue of Isolated GH Deficiency Type II (IGHD II) via Pharmacologic Modulation of GH-1 Splicing. Endocrinology, 157(10), pp. 3972-3982. Oxford University Press 10.1210/en.2015-2038

Saner, Christoph; Simonetti, Giacomo; Wühl, Elke; Mullis, Primus-Eugen; Janner, Marco (2016). Circadian and ultradian cardiovascular rhythmicity in obese children. European journal of pediatrics, 175(8), pp. 1031-1038. Springer 10.1007/s00431-016-2736-4

De Schepper, Jean; Vanderfaeillie, Johan; Mullis, Primus-Eugen; Rooman, Raoul; Robertson, Anna; Dilleen, Maria; Gomez, Roy; Wollmann, Hartmut A (2016). 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. Clinical endocrinology, 84(3), pp. 353-360. Blackwell Scientific Publications 10.1111/cen.12968

Miletta, Maria Consolata; Eblé, Andrée; Janner, Marco; Parween, Shaheena; Pandey, Amit Vikram; Flück Pandey, Christa Emma; Mullis, Primus-Eugen (2015). IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion. Journal of clinical endocrinology and metabolism, 100(12), E1575-E1583. Endocrine Society 10.1210/jc.2015-3265

Burckhardt, Marie-Anne; Udhane, Sameer Sopanrao; Marti, Nesa Magdalena; Schnyder, Isabelle; Tapia, Coya; Nielsen, John E; Mullis, Primus-Eugen; Rajpert-De Meyts, Ewa; Flück, Christa Emma (2015). Human 3β-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature. European journal of endocrinology, 173(5), K1-K12. BioScientifica Ltd. 10.1530/EJE-15-0599

Sommer, Grit; Gianinazzi, Micol Eva; Kuonen, Rahel; Bohlius, Julia; l'Allemand, Dagmar; Hauschild, Michael; Mullis, Primus-Eugen; Kuehni, Claudia E (2015). Health-Related Quality of Life of Young Adults Treated with Recombinant Human Growth Hormone during Childhood. PLoS ONE, 10(10), e0140944. Public Library of Science 10.1371/journal.pone.0140944

Udhane, Sameer Sopanrao; Pandey, Amit Vikram; Hofer, Gaby; Mullis, Primus-Eugen; Flück Pandey, Christa Emma (2015). Retinoic acid receptor beta and angiopoietin-like protein 1 are involved in the regulation of human androgen biosynthesis. Scientific Reports, 5, p. 10132. Nature Publishing Group 10.1038/srep10132

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; ... (2015). De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nature genetics, 47(4), pp. 393-399. Nature America 10.1038/ng.3239

Saner, Christoph; Simonetti, Giacomo; Wühl, Elke; Mullis, Primus-Eugen; Janner, Marco (2015). Increased ambulatory arterial stiffness index in obese children. Atherosclerosis, 238(2), pp. 185-189. Elsevier 10.1016/j.atherosclerosis.2014.12.009

Burckhardt, Marie-Anne; Obmann, Verena Carola; Wolf, Rainer Walter; Janner, Marco; Flück, Christa E; Mullis, Primus-Eugen (2015). Ovarian and uterine development and hormonal feedback mechanism in a 46 XX patient with CYP19A1 deficiency under low dose estrogen replacement. Gynecological endocrinology, 31(5), pp. 349-354. Informa Healthcare 10.3109/09513590.2014.995619

Camats Tarruella, Núria; Fernández-Cancio, Mónica; Audí, Laura; Mullis, Primus-Eugen; Moreno, Francisca; González Casado, Isabel; López-Siguero, Juan Pedro; Corripio, Raquel; Bermúdez de la Vega, José Antonio; Blanco, José Antonio; Flück, Christa Emma (2015). Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype. PLoS ONE, 10(11), e0142831. Public Library of Science 10.1371/journal.pone.0142831

Camats Tarruella, Núria; Audí, Laura; Fernández-Cancio, Mónica; Andaluz, Pilar; Mullis, Primus-Eugen; Carrascosa, Antonio; Flück, Christa Emma (2015). LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitro and in vivo Study. Sexual development, 9(3), pp. 144-154. Karger 10.1159/000381575

Deillon, Eva; Hauschild, Michael; Faouzi, Mohamed; Stoppa-Vaucher, Sophie; Elowe-Gruau, Eglantine; Dwyer, Andrew; Theintz, Gerald E; Dubuis, Jean-Michel; Mullis, Primus-Eugen; Pitteloud, Nelly; Phan-Hug, Franziska (2015). Natural history of growth hormone deficiency in a pediatric cohort. Hormone research in paediatrics, 83(4), pp. 252-261. Karger 10.1159/000369392

Del Pozo, Emilio; Janner, Marco; Mackenzie, Andrew R; Arampatzis, Spyridon; Dixon, Arnold K; Perrelet, Romain; Ruch, Walter; Lippuner, Kurt; Zapf, Juergen; Lamberts, Steven W; Mullis, Primus-Eugen (2014). Radiometrical, hormonal and biological correlates of skeletal growth in the female rat from birth to senescence. Growth hormone & IGF research, 24(2-3), pp. 83-88. Elsevier 10.1016/j.ghir.2014.03.003

Pagani, Sara; Petkovic, Vibor; Messini, Beatrice; Meazza, Cristina; Bozzola, Elena; Mullis, Primus-Eugen; Bozzola, Mauro (2014). Heterozygous GHR gene mutation in a child with idiopathic short stature. Journal of pediatric endocrinology & metabolism, 27(3-4), pp. 329-334. De Gruyter 10.1515/jpem-2013-0359

Miletta, Maria Consolata; Petkovic, Vibor; Eblé, Andrée; Ammann, Roland; Flück, Christa; Mullis, Primus-Eugen (2014). Butyrate increases intracellular calcium levels and enhances growth hormone release from rat anterior pituitary cells via the G-protein-coupled receptors GPR41 and 43. PLoS ONE, 9(10), e107388. Public Library of Science 10.1371/journal.pone.0107388

Petkovic, Vibor; Miletta, Maria Consolata; Eblé, Andrée; Flück, Christa; Mullis, Primus-Eugen (2014). Alteration of ZnT5-mediated zinc import into the early secretory pathway affects the secretion of growth hormone from rat pituitary cells. Hormone research in paediatrics, 82(4), pp. 245-251. Karger 10.1159/000365924

Petkovic, Vibor; Miletta, Maria Consolata; Eblé, Andrée; Iliev, Daniel I.; Binder, Gerhard; Flück, Christa; Mullis, Primus-Eugen (2013). Effect of zinc binding residues in growth hormone (GH) and altered intracellular zinc content on regulated GH secretion. Endocrinology, 154(11), pp. 4215-4225. Endocrine Society 10.1210/en.2013-1089

Miletta, Maria Consolata; Schöni, Martin Heinrich; Kernland Lang, Kristin Helene; Mullis, Primus-Eugen; Petkovic, Vibor (2013). The role of zinc dynamics in growth hormone secretion. Hormone research in paediatrics, 80(6), pp. 381-389. Karger 10.1159/000355408

Miletta, Maria Consolata; Bieri, Andreas; Kernland Lang, Kristin Helene; Schöni, Martin Heinrich; Petkovic, Vibor; Flück, Christa; Eblé, Andrée; Mullis, Primus-Eugen (2013). Transient Neonatal Zinc Deficiency Caused by a Heterozygous G87R Mutation in the Zinc Transporter ZnT-2 (SLC30A2) Gene in the Mother Highlighting the Importance of Zn (2+) for Normal Growth and Development. International journal of endocrinology, 2013, p. 259189. Hindawi 10.1155/2013/259189

Bieri, Andreas; Oser-Meier, Monika; Janner, Marco; Cripe-Mamie, Chantal; Pipczynski-Suter, Kathrin; Mullis, Primus-Eugen; Flück, Christa E. (2013). Children's and adolescent's self - assessment of metabolic control versus professional judgment: a cross-sectional retrospective and prospective cohort study. International journal of pediatric endocrinology, 2013(1), p. 21. BioMed Central 10.1186/1687-9856-2013-21

Camats Tarruella, Núria; Pandey, Amit Vikram; Fernández-Cancio, M.; Andaluz, P.; Janner, Marco; Torán, N.; Moreno, F.; Bereket, A.; Akcay, T.; García-García, E.; Muñoz, M. T.; Gracia, R.; Nistal, M.; Castaño, L.; Mullis, Primus-Eugen; Carrascosa, A.; Audí, L.; Flück Pandey, Christa Emma (2012). Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. Journal of clinical endocrinology and metabolism, 97(7), E1294-306. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2011-3169

Petkovic, Vibor; Eblé, Andrée; Pandey, Amit V; Betta, Marta; Mella, Patrizia; Flück, Christa E; Buzi, Fabio; Mullis, Primus-Eugen (2011). A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome. Growth hormone & IGF research, 21(3), pp. 160-6. Oxford: Elsevier 10.1016/j.ghir.2011.04.002

Pandey, Amit Vikram; Mullis, Primus-Eugen (2011). Molecular Genetics and Bioinformatic Methods for Diagnosis of Endocrine Disorders. In: Ranke, M.B.; Mullis, P.-E. (eds.) Diagnostics of endocrine function in children and adolescents (pp. 32-52). Karger

Mullis, Primus-Eugen (2010). Hormones and the science of athletic performance. Preface. Endocrinology and metabolism clinics of North America, 39(1), xvii. Philadelphia, Pa.: Elsevier 10.1016/j.ecl.2009.11.005

Pandey, Amit V; Flück, Christa E; Mullis, Primus-Eugen (2010). Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase. Biochemical and biophysical research communications, 400(3), pp. 374-8. Orlando, Fla.: Academic Press 10.1016/j.bbrc.2010.08.072

Flück, Christa E.; Maret, Alexander; Mallet, Delphine; Portrat-Doyen, Stéphanie; Achermann, John C.; Leheup, Bruno; Theintz, Gérald E.; Mullis, Primus-Eugen; Morel, Yves (2005). A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia. Journal of clinical endocrinology and metabolism, 90(9), pp. 5304-5308. Endocrine Society 10.1210/jc.2005-0874

Flück, Christa; Mullis, Primus-Eugen (2005). The diabetic child in the emergency room. Therapeutische Umschau, 62(8), pp. 571-576. Huber

Besson, Amélie; Salemi, Souzan; Deladoëy, Johnny; Vuissoz, Jean-Marc; Eblé, Andrée; Bidlingmaier, Martin; Bürgi, Sibylle; Honegger, Ulrich; Flück, Christa; Mullis, Primus-Eugen (2005). Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). The Journal of clinical endocrinology and metabolism, 90(5), pp. 2493-2499. The Endocrine Society 10.1210/jc.2004-1838

Flück, Christa; Deladoëy, Johnny; Nayak, S.; Zeller, O.; Kopp, P.; Mullis, Primus-Eugen (2001). Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II). European journal of endocrinology, 145(4), pp. 439-444. BioScientifica Ltd.

Nuoffer, Jean-Marc; Flück, Christa; Deladoëy, Johnny; Eblé, Andrée; Dattani, M T; Mullis, Primus-Eugen (2000). Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line. Journal of endocrinology, 165(2), pp. 313-320. BioScientifica

Flück, Christa; Kuhlmann, B. V.; Mullis, Primus-Eugen (1999). Metabolic control in children and adolescents with diabetes mellitus type I in Berne: a cross-sectional study. Schweizerische medizinische Wochenschrift, 129(44), pp. 1650-1655. B. Schwabe & Co.

Deladoëy, Johnny; Flück, Christa; Bex, M.; Yoshimura, N.; Harada, N.; Mullis, Primus-Eugen (1999). Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy. The Journal of clinical endocrinology and metabolism, 84(11), pp. 4050-4054. The Endocrine Society 10.1210/jcem.84.11.6135

Flück, Christa; Kuhlmann, B V; Mullis, Primus-Eugen (1999). Insulin increases serum leptin concentrations in children and adolescents with newly diagnosed type I diabetes mellitus with and without ketoacidosis. Diabetologia, 42(9), pp. 1067-1070. Springer 10.1007/s001250051272

Deladoëy, Johnny; Flück, Christa; Büyükgebiz, A.; Kuhlmann, B. V.; Eblé, Andrée; Hindmarsh, P. C.; Wu, W.; Mullis, Primus-Eugen (1999). "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. The Journal of clinical endocrinology and metabolism, 84(5), pp. 1645-1650. The Endocrine Society 10.1210/jcem.84.5.5681

Mullis, Primus-Eugen; Wagner, Johannes K; Eblé, Andrée; Nuoffer, Jean-Marc; Postel-Vinay, Marie-Catherine (1997). Regulation of human growth hormone receptor gene transcription by human growth hormone binding protein. Molecular and cellular endocrinology, 131(1), pp. 89-96. Elsevier Ireland 10.1016/s0303-7207(97)00096-8