Publications by authors named "Marco Janner"

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A Novel Mutation in the Gene Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient.
Maria Natalia Rojas Velazquez, Fabiola Blanco, Ana Ayala-Lugo, Lady Franco, Valerie Jolly, Marco Janner

Int J Mol Sci· March 2024

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Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.
Mara Grassi, Bernard Laubscher, Amit V Pandey, Sibylle Tschumi, Franziska Graber, Marco Janner

Mol Syndromol· August 2023

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Evidence for protein leverage in a general population sample of children and adolescents.
Christoph Saner, Alistair M Senior, Hanyue Zhang, Aino-Maija Eloranta, Costan G Magnussen, Marco Janner

Eur J Clin Nutr· June 2023

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Clinically practical pharmacometrics computer model to evaluate and personalize pharmacotherapy in pediatric rare diseases: application to Graves' disease.
Britta Steffens, Gilbert Koch, Pascal Gächter, Fabien Claude, Verena Gotta, Marco Janner

Front Med (Lausanne)· May 2023

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Impact of Type 1 Diabetes Mellitus on Bone Health in Children.
Marco Janner, Christoph Saner

Horm Res Paediatr· August 2022

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Modeling of levothyroxine in newborns and infants with congenital hypothyroidism: challenges and opportunities of a rare disease multi-center study.
Gilbert Koch, Britta Steffens, Stephanie Leroux, Verena Gotta, Johannes Schropp, Marco Janner

J Pharmacokinet Pharmacodyn· October 2021

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Modest decrease in severity of obesity in adolescence associates with low arterial stiffness.
Christoph Saner, Tomi T Laitinen, Joel Nuotio, Sarah J Arnup, Brooke E Harcourt, Marco Janner

Atherosclerosis· October 2021

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Premature Adrenarche in Girls Characterized By Enhanced 17,20-Lyase and 17β-Hydroxysteroid Dehydrogenase Activities.
Marco Janner, Grit Sommer, Michael Groessl, Christa E Flück

J Clin Endocrinol Metab· December 2020

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Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Shahida Moosa, Guilherme L Yamamoto, Lutz Garbes, Katharina Keupp, Ana Beleza-Meireles, Marco Janner

Am J Hum Genet· October 2019

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Prescription of vitamin D among Swiss pediatricians.
Maristella Santi, Marco Janner, Giacomo D Simonetti, Sebastiano A G Lava

Eur J Pediatr· July 2019

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Androgen production in pediatric adrenocortical tumors may occur via both the classic and/or the alternative backdoor pathway.
Nesa Marti, Jana Malikova, José A Galván, Maude Aebischer, Marco Janner

Mol Cell Endocrinol· September 2017

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Circadian and ultradian cardiovascular rhythmicity in obese children.
Christoph Saner, Giacomo D Simonetti, Elke Wühl, Primus E Mullis, Marco Janner

Eur J Pediatr· August 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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Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Lamisse Mansour-Hendili, Anne Blanchard, Nelly Le Pottier, Isabelle Roncelin, Stéphane Lourdel, Marco Janner

Hum Mutat· August 2015

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Ovarian and uterine development and hormonal feedback mechanism in a 46 XX patient with CYP19A1 deficiency under low dose estrogen replacement.
Marie-Anne Burckhardt, Verena Obmann, Rainer Wolf, Marco Janner, Christa E Flück

Gynecol Endocrinol· May 2015

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Increased ambulatory arterial stiffness index in obese children.
Christoph Saner, Giacomo D Simonetti, Elke Wühl, Primus E Mullis, Marco Janner

Atherosclerosis· February 2015

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Radiometrical, hormonal and biological correlates of skeletal growth in the female rat from birth to senescence.
Emilio del Pozo, Marco Janner, Andrew R Mackenzie, Spyridon Arampatzis, Arnold K Dixon

Growth Horm IGF Res· January 2015

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Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
Debayan Dasgupta, Mark J Wee, Monica Reyes, Yuwen Li, Peter J Simm, Marco Janner

J Am Soc Nephrol· October 2014

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Children's and adolescent's self - assessment of metabolic control versus professional judgment: a cross-sectional retrospective and prospective cohort study.
Andreas Bieri, Monika Oser-Meier, Marco Janner, Chantal Cripe-Mamie, Kathrin Pipczynski-Suter

Int J Pediatr Endocrinol· December 2013

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Impact of estrogen replacement throughout childhood on growth, pituitary-gonadal axis and bone in a 46,XX patient with CYP19A1 deficiency.
Marco Janner, Christa E Flück, Primus E Mullis

Horm Res Paediatr· May 2013

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High prevalence of vitamin D deficiency in children and adolescents with type 1 diabetes.
Marco Janner, Pietro Ballinari, Primus E Mullis, Christa E Flück

Swiss Med Wkly· November 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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Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein.
Marco Janner, Amit V Pandey, Primus E Mullis, Christa E Flück

Eur J Endocrinol· July 2006

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