Mullis, Primus-Eugen

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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

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

Petkovic, Vibor; Miletta, Maria Consolata; Boot, Annemieke M; Losekoot, Monique; Flück, Christa E; Pandey, Amit V; Eblé, Andrée; Wit, Jan Maarten; Mullis, Primus E (2013). Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH. European journal of endocrinology, 168(3), K35-43. Bristol: BioScientifica Ltd. 10.1530/EJE-12-0847

Grunt, Sebastian; Steinlin, Maja; Weisstanner, Christian; Schöning, Martin; Mullis, Primus E; Flück, Christa E (2013). Acute Encephalopathy with Unilateral Cortical-Subcortical Lesions in Two Unrelated Kindreds Treated with Glucocorticoids Prenatally for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Established Facts and Novel Insight. Hormone research in paediatrics, 80(1), pp. 57-63. Basel: Karger 10.1159/000348515

Ranke, Michael B; Lindberg, Anders; Mullis, Primus E; Geffner, Mitchell E; Tanaka, Toshi; Cutfield, Wayne S; Tauber, Maïthé; Dunger, David (2013). Towards optimal treatment with growth hormone in short children and adolescents: evidence and theses. Hormone research in paediatrics, 79(2), pp. 51-67. Basel: Karger 10.1159/000347121

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

Udhane, Sameer Sopanrao; Kempna, Petra; Hofer, Gaby; Mullis, Primus E.; Flück, Christa (2013). 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. PLoS ONE, 8(7), e68691. Public Library of Science 10.1371/journal.pone.0068691

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

Renehan, Andrew G; Solomon, Mattea; Zwahlen, Marcel; Morjaria, Reena; Whatmore, Andrew; Audí, Laura; Binder, Gerhard; Blum, Werner; Bougnères, Pierre; Santos, Christine Dos; Carrascosa, Antonio; Hokken-Koelega, Anita; Jorge, Alexander; Mullis, Primus E; Tauber, Maïthé; Patel, Leena; Clayton, Peter E (2012). Growth hormone receptor polymorphism and growth hormone therapy response in children: a bayesian meta-analysis. American journal of epidemiology, 175(9), pp. 867-877. Cary, N.C.: Oxford University Press 10.1093/aje/kwr408

Hirsch, Andrea; Hahn, Dagmar; Kempná, Petra; Hofer, Gaby; Mullis, Primus E; Nuoffer, Jean-Marc; Flück, Christa E (2012). Role of AMP-activated protein kinase on steroid hormone biosynthesis in adrenal NCI-H295R cells. PLoS ONE, 7(1), e30956. Lawrence, Kans.: Public Library of Science 10.1371/journal.pone.0030956

Miletta, Maria Consolata; Scheidegger, Ursina A; Giordano, Mara; Bozzola, Mauro; Pagani, Sara; Bona, Gianni; Dattani, Mehul; Hindmarsh, Peter C; Petkovic, Vibor; Oser-Meier, Monika; Flück, Christa E; Mullis, Primus-E (2012). Association of the (CA)n repeat polymorphism of insulin-like growth factor-I and -202 A/C IGF-binding protein-3 promoter polymorphism with adult height in patients with severe growth hormone deficiency. Clinical endocrinology, 76(5), pp. 683-90. Oxford: Blackwell Scientific Publications 10.1111/j.1365-2265.2011.04267.x

Hirsch, Andrea; Hahn, Dagmar; Kempná, Petra; Hofer, Gaby; Nuoffer, Jean-Marc; Mullis, Primus E; Flück, Christa E (2012). Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain. Endocrinology, 153(9), pp. 4354-66. Chevy Chase, Md.: Endocrine Society 10.1210/en.2012-1145

Janner, Marco; Flück, Christa E.; Mullis, Primus E. (2012). Impact of estrogen replacement throughout childhood on growth, pituitary-gonadal axis and bone in a 46,XX patient with CYP19A1 deficiency. Hormone research in paediatrics, 78(4), pp. 261-268. Basel: Karger 10.1159/000341585

Miletta, Maria Consolata; Lochmatter, Didier; Pektovic, Vibor; Mullis, Primus-E (2012). Isolated growth hormone deficiency type 2: from gene to therapy. Endocrine development, 23, pp. 109-120. Basel: Karger 10.1159/000341766

Petkovic, Vibor; Miletta, Maria Consolata; Mullis, Primus-E (2012). From endoplasmic reticulum to secretory granules: role of zinc in the secretory pathway of growth hormone. Endocrine development, 23, pp. 96-108. Basel: Karger 10.1159/000341763

Mullis, ; Primus, E (2012). Preface: developmental biology of growth hormone (GH) secretion. Endocrine development, 23, VII. Basel: Karger


Hagemann, Kerstin; Zanolari Calderari, Maura; Perren, Aurel; Cree, Ian; Mullis, Primus E; Flück, Christa E (2011). Atypical presentation of a hormonally active adrenocortical tumor in an adolescent leading to delayed diagnosis. Hormones - international journal of endocrinology and metabolism, 10(4), pp. 317-25. Athens: Hellenic Endocrine Soc.

Flück, Christa E; Pandey, Amit V; Dick, Bernhard; Camats, Núria; Fernández-Cancio, Mónica; Clemente, María; Gussinyé, Miquel; Carrascosa, Antonio; Mullis, Primus E; Audi, Laura (2011). Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia. PLoS ONE, 6(5), e20178. Lawrence, Kans.: Public Library of Science 10.1371/journal.pone.0020178

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

Mullis, ; Primus, E (2011). Genetics of GHRH, GHRH-receptor, GH and GH-receptor: its impact on pharmacogenetics. Best practice & research - clinical endocrinology & metabolism, 25(1), pp. 25-41. London: Baillière Tindall 10.1016/j.beem.2010.06.006

Wit, J M; Kiess, W; Mullis, P (2011). Genetic evaluation of short stature. Best practice & research - clinical endocrinology & metabolism, 25(1), pp. 1-17. London: Baillière Tindall 10.1016/j.beem.2010.06.007

Ranke, MB; Mullis, PE (2011). Diagnostics of endocrine function in children and adolescents. Karger

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, PE (2011). Cartilage and Bone Development and its Disorders. Karger

Lochmatter, Didier; Mullis, Primus-E (2011). RNA interference in mammalian cell systems. Hormone research in paediatrics, 75(1), pp. 63-9. Basel: Karger 10.1159/000322817


Steinberg, Florian; Zhuang, Lei; Beyeler, Michael; Kälin, Roland E; Mullis, Primus E; Brändli, André W; Trueb, Beat (2010). The FGFRL1 receptor is shed from cell membranes, binds fibroblast growth factors (FGFs), and antagonizes FGF signaling in Xenopus embryos. Journal of biological chemistry, 285(3), pp. 2193-202. Bethesda, Md.: American Society for Biochemistry and Molecular Biology 10.1074/jbc.M109.058248

Tonella, P; Flück, C E; Mullis, P E (2010). Metabolic control of type 1 diabetic patients followed at the University Children's Hospital in Berne: Have we reached the goal? Swiss medical weekly, 140, w13057. Muttenz: EMH Schweizerischer Ärzteverlag 10.4414/smw.2010.13057

Tonella, P; Flück, C E; Mullis, P E (2010). Insulin-like growth factor-I treatment in primary growth hormone insensitivity: effect of recombinant human IGF-I (rhIGF-I) and rhIGF-I/rhIGF-binding protein-3 complex. Hormone research in paediatrics, 73(2), pp. 140-7. Basel: Karger 10.1159/000277660

Nicolo, Catherine; Flück, Christa E.; Mullis, Primus E.; Pandey, Amit V. (2010). Restoration of mutant cytochrome P450 reductase activity by external flavin. Molecular and cellular endocrinology, 321(2), pp. 245-252. Shannon: Elsevier Ireland 10.1016/j.mce.2010.02.024

Gozzi, T; Flück, Ce; L'allemand, D; Dattani, M T; Hindmarsh, P C; Mullis, P E (2010). Do centimetres matter? Self-reported versus estimated height measurements in parents. Acta paediatrica, 99(4), pp. 569-74. Oslo: Wiley 10.1111/j.1651-2227.2009.01654.x

Petkovic, Vibor; Godi, Michela; Pandey, Amit V; Lochmatter, Didier; Buchanan, Charles R; Dattani, Mehul T; Eblé, Andrée; Flück, Christa E; Mullis, Primus E (2010). Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action. Journal of clinical endocrinology and metabolism, 95(2), pp. 731-9. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2009-1247

Petkovic, Vibor; Godi, Michela; Lochmatter, Didier; Eblé, Andrée; Flück, Christa E; Robinson, Iain C; Mullis, Primus E (2010). Growth hormone (GH)-releasing hormone increases the expression of the dominant-negative GH isoform in cases of isolated GH deficiency due to GH splice-site mutations. Endocrinology, 151(6), pp. 2650-8. Chevy Chase, Md.: Endocrine Society 10.1210/en.2009-1280

Kamber, Matthias; Mullis, Primus-E (2010). The worldwide fight against doping: from the beginning to the World Anti-Doping Agency. Endocrinology and metabolism clinics of North America, 39(1), 1-9, vii. Philadelphia, Pa.: Elsevier 10.1016/j.ecl.2009.10.009

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

Janner, Marco; Ballinari, Pietro; Mullis, Primus E.; Flueck, Christa E. (2010). High prevalence of vitamin D deficiency in children and adolescents with type 1 diabetes. Swiss medical weekly, 140, w13091. Muttenz: EMH Schweizerischer Ärzteverlag 10.4414/smw.2010.13091

Flück, Christa E; Mullis, Primus E; Pandey, Amit V (2010). Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism. Biochemical and biophysical research communications, 401(1), pp. 149-53. Orlando, Fla.: Academic Press 10.1016/j.bbrc.2010.09.035

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

Lochmatter, Didier; Strom, Molly; Eblé, André; Petkovic, Vibor; Flück, Christa E; Bidlingmaier, Martin; Robinson, Iain C; Mullis, Primus E (2010). Isolated GH deficiency type II: knockdown of the harmful Delta3GH recovers wt-GH secretion in rat tumor pituitary cells. Endocrinology, 151(9), pp. 4400-9. Chevy Chase, Md.: Endocrine Society 10.1210/en.2010-0196

Kempná, Petra; Hirsch, Andrea; Hofer, Gaby; Mullis, Primus E; Flück, Christa E (2010). Impact of differential P450c17 phosphorylation by cAMP stimulation and by starvation conditions on enzyme activities and androgen production in NCI-H295R cells. Endocrinology, 151(8), pp. 3686-96. Chevy Chase, Md.: Endocrine Society 10.1210/en.2010-0093

Peters, Catherine; Langham, Shirley; Mullis, Primus E; Dattani, Mehul T (2010). Use of combined liothyronine and thyroxine therapy for consumptive hypothyroidism associated with hepatic haemangiomas in infancy. Hormone research in paediatrics, 74(2), pp. 149-52. Basel: Karger 10.1159/000281884

Mullis, (2010). Biological determinants of responsiveness to growth hormone: pharmacogenomics and personalized medicine. Endocrine development, 18, pp. 67-82. Basel: Karger


del Pozo, E.; Zapf, J.; Mackenzie, A. R.; Janner, M.; Perrelet, R.; Lippuner, K.; Mullis, P. (2009). Experimental arthritis: effect on growth parameters and total skeletal calcium. Growth hormone & IGF research, 19(5), pp. 442-446. Oxford: Elsevier 10.1016/j.ghir.2009.01.003

Flück, Christa E; Mullis, Primus E; Pandey, Amit V (2009). Modeling of human P450 oxidoreductase structure by in silico mutagenesis and MD simulation. Molecular and cellular endocrinology, 313(1-2), pp. 17-22. Shannon: Elsevier Ireland 10.1016/j.mce.2009.09.001

Scheidegger, U A; Flück, C E; Scheidegger, K; Diem, P; Mullis, P E (2009). [Role of complementary medicine in type 1 diabetes mellitus in two Swiss centres]. Praxis - schweizerische Rundschau für Medizin, 98(18), pp. 1001-5. Bern: Huber

Missaghian, Elika; Kempná, Petra; Dick, Bernhard; Hirsch, Andrea; Alikhani-Koupaei, Rasoul; Jégou, Bernard; Mullis, Primus E; Frey, Brigitte M; Flück, Christa E (2009). Role of DNA methylation in the tissue-specific expression of the CYP17A1 gene for steroidogenesis in rodents. Journal of endocrinology, 202(1), pp. 99-109. Bristol: BioScientifica 10.1677/JOE-08-0353

Mullis, P-E; Janner, M (2009). [Growth: what is normal?]. Praxis - schweizerische Rundschau für Medizin, 98(17), pp. 953-60. Bern: Huber

Alatzoglou, Kyriaki S; Turton, James P; Kelberman, Daniel; Clayton, Peter E; Mehta, Ameeta; Buchanan, Charles; Aylwin, Simon; Crowne, Elisabeth C; Christesen, Henrik T; Hertel, Niels T; Trainer, Peter J; Savage, Martin O; Raza, Jamal; Banerjee, Kausik; Sinha, Sunil K; Ten, Svetlana; Mushtaq, Talat; Brauner, Raja; Cheetham, Timothy D; Hindmarsh, Peter C; ... (2009). Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency. Journal of clinical endocrinology and metabolism, 94(9), pp. 3191-9. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2008-2783

Mohamadi, Ali; Martari, Marco; Holladay, Cindy D; Phillips, John A; Mullis, Primus E; Salvatori, Roberto (2009). Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB. Journal of clinical endocrinology and metabolism, 94(7), pp. 2565-70. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2009-0512

Oestmann, A; Mullis, P E; Stanga, Z (2009). [Hermaphroditos in Greek mythology--DSD in moderne medicine]. Praxis - schweizerische Rundschau für Medizin, 98(1), pp. 31-4. Bern: Huber


Räz, Barbara; Janner, Marco; Petkovic, Vibor; Lochmatter, Didier; Eblé, Andrée; Dattani, Mehul T.; Hindmarsh, Peter C.; Flück, Christa E.; Mullis, Primus E. (2008). Influence of growth hormone (GH) receptor deletion of exon 3 and full-length isoforms on GH response and final height in patients with severe GH deficiency. Journal of clinical endocrinology and metabolism, 93(3), pp. 974-980. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2007-1382

Mullis, Primus-E; Tonella, Paolo (2008). Regulation of fetal growth: consequences and impact of being born small. Best practice & research - clinical endocrinology & metabolism, 22(1), pp. 173-90. London: Baillière Tindall 10.1016/j.beem.2007.07.010


Janner, M.; Mullis, P. E. (2007). Impaired calcium homeostasis, clinical impact. Therapeutische Umschau, 64(5), pp. 271-275. Bern: Huber

Salemi, Souzan; Yousefi, Shida; Lochmatter, Didier; Eblé, Andrée; Deladoëy, Johnny; Robinson, Iain C A F; Simon, Hans-Uwe; Mullis, Primus E (2007). Isolated autosomal dominant growth hormone deficiency: stimulating mutant GH-1 gene expression drives GH-1 splice-site selection, cell proliferation, and apoptosis. Endocrinology, 148(1), pp. 45-53. Chevy Chase, Md.: Endocrine Society 10.1210/en.2006-0772

Kempná, Petra; Hofer, Gaby; Mullis, Primus E; Flück, Christa E (2007). Pioglitazone inhibits androgen production in NCI-H295R cells by regulating gene expression of CYP17 and HSD3B2. Molecular pharmacology, 71(3), pp. 787-98. Bethesda, Md.: American Society for Pharmacology and Experimental Therapeutics 10.1124/mol.106.028902

Petkovic, Vibor; Salemi, Souzan; Vassella, Erik; Karamitopoulou-Diamantis, Evanthia; Meinhardt, Udo J; Flück, Christa E; Mullis, Primus E (2007). Leydig-cell tumour in children: variable clinical presentation, diagnostic features, follow-up and genetic analysis of four cases. Hormone research, 67(2), pp. 89-95. Basel: Karger 10.1159/000096356

Petkovic, Vibor; Thevis, Mario; Lochmatter, Didier; Besson, Amélie; Eblé, Andrée; Flück, Christa E; Mullis, Primus E (2007). GH mutant (R77C) in a pedigree presenting with the delay of growth and pubertal development: structural analysis of the mutant and evaluation of the biological activity. European journal of endocrinology, 157 Suppl 1, S67-74. Bristol: BioScientifica Ltd.

Petkovic, Vibor; Lochmatter, Didier; Turton, James; Clayton, Peter E; Trainer, Peter J; Dattani, Mehul T; Eblé, Andrée; Robinson, Iain C; Flück, Christa E; Mullis, Primus E (2007). Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency. Journal of clinical endocrinology and metabolism, 92(11), pp. 4427-35. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2007-0857

Pandey, Amit V.; Kempná, Petra; Hofer, Gaby; Mullis, Primus E.; Flück, Christa E. (2007). Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase. Molecular endocrinology, 21(10), pp. 2579-95. Bethesda, Md.: Endocrine Society 10.1210/me.2007-0245

Petkovic, Vibor; Besson, Amélie; Thevis, Mario; Lochmatter, Didier; Eblé, Andrée; Flück, Christa E; Mullis, Primus E (2007). Evaluation of the biological activity of a growth hormone (GH) mutant (R77C) and its impact on GH responsiveness and stature. Journal of clinical endocrinology and metabolism, 92(8), pp. 2893-901. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2006-2238

Samandari, Elika; Kempná, Petra; Nuoffer, Jean-Marc; Hofer, Gaby; Mullis, Primus E; Flück, Christa E (2007). Human adrenal corticocarcinoma NCI-H295R cells produce more androgens than NCI-H295A cells and differ in 3beta-hydroxysteroid dehydrogenase type 2 and 17,20 lyase activities. Journal of endocrinology, 195(3), pp. 459-72. Bristol: BioScientifica 10.1677/JOE-07-0166

Binder, G; Iliev, D I; Mullis, P E; Ranke, M B (2007). Catch-up growth in autosomal dominant isolated growth hormone deficiency (IGHD type II). Growth hormone & IGF research, 17(3), pp. 242-8. Oxford: Elsevier 10.1016/j.ghir.2007.01.014

Mullis, Primus E (2007). Genetics of growth hormone deficiency. Endocrinology and metabolism clinics of North America, 36(1), pp. 17-36. Philadelphia, Pa.: Elsevier 10.1016/j.ecl.2006.11.010

Kamber, M; Mullis, P-E (2007). [Doping in adolescence]. Therapeutische Umschau, 64(2), pp. 83-9. Bern: Huber


Janner, Marco; Pandey, Amit V.; Mullis, Primus E.; Flück, Christa E. (2006). Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein. European journal of endocrinology, 155(1), pp. 143-151. Bristol: BioScientifica Ltd. 10.1530/eje.1.02172

Salemi, Souzan; Yousefi, Shida; Eblé, Andrée; Deladoëy, Johnny; Mullis, Primus E (2006). Impact of del32-71-GH (exon 3 skipped GH) on intracellular GH distribution, secretion and cell viability: a quantitative confocal microscopy analysis. Hormone research, 65(3), pp. 132-41. Basel: Karger 10.1159/000091607

Christ, Emanuel R; Zehnder, Monica; Boesch, Chris; Trepp, Roman; Mullis, Primus E; Diem, Peter; Décombaz, Jacques (2006). The effect of increased lipid intake on hormonal responses during aerobic exercise in endurance-trained men. European journal of endocrinology, 154(3), pp. 397-403. Bristol: BioScientifica Ltd. 10.1530/eje.1.02106

Spörri, D; Mullis, P E (2006). [Sun-tanned and still not healthy!]. Praxis - schweizerische Rundschau für Medizin, 95(29-30), pp. 1135-9. Bern: Huber

Janner, M.; Mullis, P. E.; Flück, C. E. (2006). Is the metabolic syndrome a new childhood disease? Praxis - schweizerische Rundschau für Medizin, 95(13), pp. 493-500. Bern: Huber

Gozzi, T; Flück, Ch E; Mullis, P-E (2006). [Follow-up in a boy with Leydig cell tumor after selective surgery]. Praxis - schweizerische Rundschau für Medizin, 95(8), pp. 277-82. Bern: Huber

Fintini, Danilo; Salvatori, Roberto; Salemi, Souzan; Otten, Barto; Ubertini, Graziamaria; Cambiaso, Paola; Mullis, Primus E (2006). Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene. Hormone research, 65(2), pp. 76-82. Basel: Karger 10.1159/000091033


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

Schnyder, Sabine; Mullis, Primus E.; Ellard, Sian; Hattersley, Andrew T.; Flück, Christa E. (2005). Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment. Swiss medical weekly, 135(23-24), pp. 352-356. EMH Schweizerischer Ärzteverlag

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

Beer, Karl T.; Bühler, Sabine S.; Mullis, Primus; Laeng, R. Hubert; Greiner, Richard (2005). A Microcystic Adnexal Carcinoma in the Auditory Canal 15 Years after Radiotherapy of a 12-Year-Old Boy with Nasopharynx Carcinoma. Strahlentherapie und Onkologie, 181(6), pp. 405-410. Urban and Vogel 10.1007/s00066-005-1323-9

Janner, M.; Mullis, P. E. (2005). Osteonpenia and pathological fractures in an adolescent with lactose intolerance and high oxalate intake. Monatsschrift Kinderheilkunde, 153(4), pp. 360-363. Springer-Verlag 10.1007/s00112-003-0773-3


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


Gerbig, A. W.; Dahinden, C. A.; Mullis, P.; Hunziker, T. (1998). Circadian elevation of IL-6 levels in Muckle-Wells syndrome: a disorder of the neuro-immune axis? QJM - an international journal of medicine, 91(7), pp. 489-492. Oxford University Press 10.1093/qjmed/91.7.489


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


Cao, Y.; Wagner, J.K.; Eblé, A.; Hindmarsh, P.; Mullis, P.E. (1994). BamHI RFLP for the GHRHR locus. Human molecular genetics, 3(4), p. 682. Oxford University Press 10.1093/hmg/3.4.682

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