Eblé, Andrée

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Journal Article

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

Miletta, Maria Consolata; Eblé, Andrée; Janner, Marco; Parween, Shaheena; Pandey, Amit Vikram; Flück, 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

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

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

Petkovic, Vibor; Eblé, Andrée; Pandey, Amit V; Betta, Marta; Mella, Patrizia; Flück, Christa E; Buzi, Fabio; Mullis, Primus E (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

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

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

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

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

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

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

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

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

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

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