Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Primus-Eugen Mullis"'
Autor:
Grit Sommer, Micol E Gianinazzi, Rahel Kuonen, Julia Bohlius, Dagmar l'Allemand, Michael Hauschild, Primus-Eugen Mullis, Claudia E Kuehni, Swiss Society for Paediatric Endocrinology and Diabetology (SGPED)
Publikováno v:
PLoS ONE, Vol 10, Iss 10, p e0140944 (2015)
Since recombinant human growth hormone (rhGH) became available in 1985, the spectrum of indications has broadened and the number of treated patients increased. However, long-term health-related quality of life (HRQoL) after childhood rhGH treatment h
Externí odkaz:
https://doaj.org/article/4928a56f7ff445419124f79408142e31
Autor:
Roy Gomez, Raoul Rooman, Johan Vanderfaeillie, Primus-Eugen Mullis, Anna Robertson, Jean De Schepper, Maria Dilleen, Hartmut A. Wollmann
Publikováno v:
Clinical endocrinology
OBJECTIVE In Europe, growth hormone (GH) treatment for children born small for gestational age (SGA) can only be initiated after 4 years of age. However, younger age at treatment initiation is a predictor of favourable response. To assess the effect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59ce3df6af8590578a7d973b240fb280
https://doi.org/10.1111/cen.12968
https://doi.org/10.1111/cen.12968
Publikováno v:
Atherosclerosis. 238:185-189
OBJECTIVE Altered arterial stiffness is a recognized risk factor of poor cardiovascular health. Ambulatory arterial stiffness index (AASI, defined as one minus the regression slope of diastolic on systolic blood pressure values derived from a 24 h ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d4146812c1e21e6ad9146e395f8a2b6
https://doi.org/10.1016/j.atherosclerosis.2014.12.009
https://doi.org/10.1016/j.atherosclerosis.2014.12.009
Autor:
Christa E. Flück, Marie-Anne Burckhardt, Rainer Walter Wolf, Verena Carola Obmann, Primus-Eugen Mullis, Marco Janner
Publikováno v:
Gynecol Endocrinol
BACKGROUND: Aromatase deficiency may result in a complete block of estrogen synthesis because of the failure to convert androgens to estrogens. In females this results in virilisation at birth ovarian cysts in prepuberty and lack of pubertal developm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df607d5bea6895ed8fa8f0e92dee2a69
Autor:
Mohamed Faouzi, Andrew A. Dwyer, Gérald Theintz, Jean-Michel Marie Maurice Dubuis, Eglantine Elowe-Gruau, Sophie Stoppa-Vaucher, Franziska Phan-Hug, Eva Deillon, Michael Hauschild, Nelly Pitteloud, Primus-Eugen Mullis
Publikováno v:
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
Background/Aims: Controversies still exist regarding the evaluation of growth hormone deficiency (GHD) in childhood at the end of growth. The aim of this study was to describe the natural history of GHD in a pediatric cohort. Methods: This is a retro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d9c283316b881908c4aa9aeff991ef0
https://doi.org/10.1159/000369392
https://doi.org/10.1159/000369392
Autor:
Isabelle Schnyder, Ewa Rajpert-De Meyts, Primus-Eugen Mullis, John E Nielsen, Nesa Magdalena Marti, Coya Tapia, Sameer S Udhane, Christa E. Flück, Marie-Anne Burckhardt
Publikováno v:
Eur J Endocrinol
Context3β-hydroxysteroid dehydrogenase deficiency (3βHSD) is a rare disorder of sexual development and steroidogenesis. There are two isozymes of 3βHSD,HSD3B1andHSD3B2. Human mutations are known for theHSD3B2gene which is expressed in the gonads a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89ef3548a0e9ea0799fb6e246e47f05d
Publikováno v:
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
UNLABELLED Altered circadian and ultradian blood pressure (BP) and heart rate (HR) rhythmicity have been described in diseases with increased cardiovascular risk. We analyzed cardiovascular rhythmicity in obese children. BP and HR rhythmicity was ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff71386a20c248930efaf3a025a23022
https://boris.unibe.ch/95633/1/art_10.1007_s00431-016-2736-4.pdf
https://boris.unibe.ch/95633/1/art_10.1007_s00431-016-2736-4.pdf
Publikováno v:
Pediatric endocrinology reviews : PER. 13(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::65056f5f55267a02571ec89fb97ca596
https://pubmed.ncbi.nlm.nih.gov/27464413
https://pubmed.ncbi.nlm.nih.gov/27464413
Publikováno v:
Biochemical pharmacology. 124
Isolated growth hormone deficiency type II (IGHD II) is a rare genetic splicing disorder characterized by reduced growth hormone (GH) secretion and short stature. It is mainly caused by autosomal dominant-negative mutations within the growth hormone
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f42e1d5dded09395d3dfa9e71c8b905d
https://pubmed.ncbi.nlm.nih.gov/27457999
https://pubmed.ncbi.nlm.nih.gov/27457999
Isolated GH deficiency (IGHD) type II, the autosomal dominant form of GHD, is mainly caused by mutations that affect splicing of GH-1. When misspliced RNA is translated, it produces a toxic 17.5-kDa GH isoform that reduces the accumulation and secret
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0377b23955a99cc030817a7462d612a