Marco Janner
Overview
Explore the profile of Marco Janner including associated specialties, affiliations and a list of published articles.
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Articles
23
Citations
246
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Recent Articles
1.
Rojas Velazquez M, Blanco F, Ayala-Lugo A, Franco L, Jolly V, Di Tore D, et al.
Int J Mol Sci
. 2024 Mar;
25(6).
PMID: 38542117
Rabson-Mendenhall syndrome (RMS) is a rare autosomal recessive disorder characterized by severe insulin resistance, resulting in early-onset diabetes mellitus. We report the first case of RMS in a Paraguayan patient....
2.
Grassi M, Laubscher B, Pandey A, Tschumi S, Graber F, Schaller A, et al.
Mol Syndromol
. 2023 Sep;
14(4):347-361.
PMID: 37766831
Introduction: The p.(Arg85Trp) variant-specific phenotype of hepatocyte nuclear factor 4 alpha shows a complex clinical picture affecting three different organ systems and their corresponding metabolisms. Little is known about the...
3.
Steffens B, Koch G, Gachter P, Claude F, Gotta V, Bachmann F, et al.
Front Med (Lausanne)
. 2023 May;
10:1099470.
PMID: 37206476
Objectives: Graves' disease (GD) with onset in childhood or adolescence is a rare disease (ORPHA:525731). Current pharmacotherapeutic approaches use antithyroid drugs, such as carbimazole, as monotherapy or in combination with...
4.
Saner C, Senior A, Zhang H, Eloranta A, Magnussen C, Sabin M, et al.
Eur J Clin Nutr
. 2023 Feb;
77(6):652-659.
PMID: 36797489
Background/objectives: The strong regulation of protein intake can lead to overconsumption of total energy on diets with a low proportion of energy from protein, a process referred to as protein...
5.
Janner M, Saner C
Horm Res Paediatr
. 2021 Dec;
95(3):205-214.
PMID: 34937025
This paper gives an overview of the impact of type 1 diabetes on bone health in children and adolescents. Firstly, we analyse studies using dual X-ray absorptiometry to assess bone...
6.
Saner C, Laitinen T, Nuotio J, Arnup S, Harcourt B, Bekkering S, et al.
Atherosclerosis
. 2021 Sep;
335:23-30.
PMID: 34543877
Background And Aims: Childhood obesity is associated with cardiovascular risk factors (CVRF), subclinical cardiovascular phenotypes (carotid intima-media thickness, cIMT; pulse-wave velocity, PWV; and carotid elasticity), and adult cardiovascular disease (CVD)...
7.
Koch G, Steffens B, Leroux S, Gotta V, Schropp J, Gachter P, et al.
J Pharmacokinet Pharmacodyn
. 2021 Jun;
48(5):711-723.
PMID: 34117565
Modeling of retrospectively collected multi-center data of a rare disease in pediatrics is challenging because laboratory data can stem from several decades measured with different assays. Here we present a...
8.
Janner M, Sommer G, Groessl M, Fluck C
J Clin Endocrinol Metab
. 2020 Sep;
105(12).
PMID: 32865200
Context: Girls with premature adrenarche (PA) may have a higher risk of developing polycystic ovary syndrome (PCOS) and metabolic syndrome. The biological purpose of adrenarche is unknown and the role...
9.
Moosa S, Yamamoto G, Garbes L, Keupp K, Beleza-Meireles A, Moreno C, et al.
Am J Hum Genet
. 2019 Oct;
105(4):836-843.
PMID: 31564437
Osteogenesis imperfecta (OI) comprises a genetically heterogeneous group of skeletal fragility diseases. Here, we report on five independent families with a progressively deforming type of OI, in whom we identified...
10.
Santi M, Janner M, Simonetti G, Lava S
Eur J Pediatr
. 2019 May;
178(7):1119-1123.
PMID: 31134320
The traditional recommendation that Swiss children receive vitamin D during the first year of life was recently extended to the second and third year of life and during winter for...