Publications by authors named "Andree Eble"

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Rescue of Isolated GH Deficiency Type II (IGHD II) via Pharmacologic Modulation of GH-1 Splicing.
Maria Consolata Miletta, Vibor Petkovic, Andrée Eblé, Christa E Flück, Primus-E Mullis

Endocrinology· October 2016

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IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion.
Maria Consolata Miletta, Andrée Eblé, Marco Janner, Shaheena Parween, Amit V Pandey

J Clin Endocrinol Metab· December 2015

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Alteration of ZnT5-mediated zinc import into the early secretory pathway affects the secretion of growth hormone from rat pituitary cells.
Vibor Petkovic, Maria Consolata Miletta, Andrée Eblé, Christa E Flück, Primus-E Mullis

Horm Res Paediatr· June 2015

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Butyrate increases intracellular calcium levels and enhances growth hormone release from rat anterior pituitary cells via the G-protein-coupled receptors GPR41 and 43.
Maria Consolata Miletta, Vibor Petkovic, Andrée Eblé, Roland A Ammann, Christa E Flück

PLoS One· June 2015

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Effect of zinc binding residues in growth hormone (GH) and altered intracellular zinc content on regulated GH secretion.
Vibor Petkovic, Maria Consolata Miletta, Andrée Eblé, Daniel I Iliev, Gerhard Binder

Endocrinology· November 2013

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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.
Maria Consolata Miletta, Andreas Bieri, Kristin Kernland, Martin H Schöni, Vibor Petkovic

Int J Endocrinol· November 2013

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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.
Vibor Petkovic, Maria Consolata Miletta, Annemieke M Boot, Monique Losekoot, Christa E Flück

Eur J Endocrinol· March 2013

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A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome.
Vibor Petkovic, Andrée Eblé, Amit V Pandey, Marta Betta, Patrizia Mella

Growth Horm IGF Res· June 2011

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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.
Vibor Petkovic, Michela Godi, Didier Lochmatter, Andrée Eblé, Christa E Flück

Endocrinology· June 2010

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Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action.
Vibor Petkovic, Michela Godi, Amit V Pandey, Didier Lochmatter, Charles R Buchanan

J Clin Endocrinol Metab· February 2010

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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.
Barbara Räz, Marco Janner, Vibor Petkovic, Didier Lochmatter, Andrée Eblé

J Clin Endocrinol Metab· March 2008

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Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency.
Vibor Petkovic, Didier Lochmatter, James Turton, Peter E Clayton, Peter J Trainer

J Clin Endocrinol Metab· November 2007

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Evaluation of the biological activity of a growth hormone (GH) mutant (R77C) and its impact on GH responsiveness and stature.
Vibor Petkovic, Amélie Besson, Mario Thevis, Didier Lochmatter, Andrée Eblé

J Clin Endocrinol Metab· August 2007

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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.
Vibor Petkovic, Mario Thevis, Didier Lochmatter, Amélie Besson, Andrée Eblé

Eur J Endocrinol· August 2007

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Isolated autosomal dominant growth hormone deficiency: stimulating mutant GH-1 gene expression drives GH-1 splice-site selection, cell proliferation, and apoptosis.
Souzan Salemi, Shida Yousefi, Didier Lochmatter, Andrée Eblé, Johnny Deladoëy

Endocrinology· January 2007

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Impact of del32-71-GH (exon 3 skipped GH) on intracellular GH distribution, secretion and cell viability: a quantitative confocal microscopy analysis.
Souzan Salemi, Shida Yousefi, Andrée Eblé, Johnny Deladoëy, Primus E Mullis

Horm Res· August 2006

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Variability of isolated autosomal dominant GH deficiency (IGHD II): impact of the P89L GH mutation on clinical follow-up and GH secretion.
Souzan Salemi, Shida Yousefi, Kurt Baltensperger, Iain C A F Robinson, Andrée Eblé

Eur J Endocrinol· December 2005

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Short stature caused by a biologically inactive mutant growth hormone (GH-C53S).
Amélie Besson, Souzan Salemi, Johnny Deladoëy, Jean-Marc Vuissoz, Andrée Eblé

J Clin Endocrinol Metab· May 2005

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Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.
Primus E Mullis, Iain C A F Robinson, Souzan Salemi, Andrée Eblé, Amélie Besson

J Clin Endocrinol Metab· April 2005

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Primary GH insensitivity '(Laron syndrome) caused by a novel 4 kb deletion encompassing exon 5 of the GH receptor gene: effect of intermittent long-term treatment with recombinant human IGF-I.
Amélie Besson, Souzan Salemi, Andrée Eblé, Fransiska Joncourt, Sabina Gallati

Eur J Endocrinol· May 2004

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New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype.
Souzan Salemi, Amélie Besson, Andrée Eblé, Sabina Gallati, Roland W Pfäffle

Growth Horm IGF Res· October 2003

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Regulation of growth-hormone-receptor gene expression by growth hormone and pegvisomant in human mesangial cells.
Udo Meinhardt, Andrée Eblé, Amélie Besson, Christian J Strasburger, Jean-Daniel Sraer

Kidney Int· August 2003

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