Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Emese Boros"'
Autor:
Clémentine Magerman, Emese Boros, Marco Preziosi, Sophie Lhoir, Nathalie Gilis, Olivier De Witte, Claudine Heinrichs, Isabelle Salmon, Christophe Fricx, Françoise Vermeulen, Laetitia Lebrun, Cécile Brachet, Marine Rodesch
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionCraniopharyngiomas (CPs) are benign brain tumors accounting for 5 - 11% of intracranial tumors in children. These tumors often recur and can cause severe morbidity. Postoperative radiotherapy efficiently controls and prevents progression
Externí odkaz:
https://doaj.org/article/3395c87c732d41eeb941af31c00448cb
Autor:
Felicia Baleanu, Georgiana Taujan, Mihaela Rosu, Olga Kosmopoulou, Blerta Ioanna Papadopoulou, Emese Boros, Laura Iconaru
Publikováno v:
Clinical Case Reports, Vol 10, Iss 12, Pp n/a-n/a (2022)
Abstract Symptoms of mild hypoglycemia are easily overlooked especially when there are no complaints from the patients, but it could be a warning sign of an underlying genetic disease. Genetic testing for the entire family is a key step in neonatal h
Externí odkaz:
https://doaj.org/article/38e5e01cd14e408aab22d3737bf39ec4
Autor:
Fiorenza Ulgiati, Sophie Lhoir, Irina Balikova, Sylvie Tenoutasse, Emese Boros, Catheline Vilain, Claudine Heinrichs, Cécile Brachet
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
ObjectiveExperimental evidence suggests that the clinical manifestations of Triple A syndrome result from oxidative stress. Several conditions caused by oxidative stress display retinal involvement. Our objective was to assess the retina and optic ne
Externí odkaz:
https://doaj.org/article/46beb4bd2b034a6c9293f8c92e894141
Autor:
Michaël R. Laurent, Jean De Schepper, Dominique Trouet, Nathalie Godefroid, Emese Boros, Claudine Heinrichs, Bert Bravenboer, Brigitte Velkeniers, Johan Lammens, Pol Harvengt, Etienne Cavalier, Jean-François Kaux, Jacques Lombet, Kathleen De Waele, Charlotte Verroken, Koenraad van Hoeck, Geert R. Mortier, Elena Levtchenko, Johan Vande Walle
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/eaa104f7d1e8466492d4d0dd53227e93
Autor:
Michaël R. Laurent, Jean De Schepper, Dominique Trouet, Nathalie Godefroid, Emese Boros, Claudine Heinrichs, Bert Bravenboer, Brigitte Velkeniers, Johan Lammens, Pol Harvengt, Etienne Cavalier, Jean-François Kaux, Jacques Lombet, Kathleen De Waele, Charlotte Verroken, Koenraad van Hoeck, Geert R. Mortier, Elena Levtchenko, Johan Vande Walle
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated levels of the hormone fibroblast growth factor 23 (FGF23), resulting in renal p
Externí odkaz:
https://doaj.org/article/6cceeed2dd894287b3e26629039907bc
Akademický článek
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Autor:
Caroline Gernay, Cécile Brachet, Emese Boros, Sylvie Tenoutasse, Cécile Libioulle, Claudine Heinrichs
Publikováno v:
Journal of the Endocrine Society. 7
Context Idiopathic central precocious puberty (iCPP) is defined by the premature reactivation of the hypothalamic-pituitary-gonadal axis with normal magnetic resonance imaging scan of the central nervous system, causing the development of secondary s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d4d4a4b464d0bb89f2e303326ad7c7d0
https://doi.org/10.1210/jendso/bvac168
https://doi.org/10.1210/jendso/bvac168
Autor:
Marie-Noëlle Méaux, Jérôme Harambat, Anya Rothenbuhler, Juliane Léger, Peter Kamenicky, Sylvie Soskin, Olivia Boyer, Emese Boros, Pascal D’Anella, Brigitte Mignot, Maite Gebhart, Philippe Vic, Nicolas Richard, Béatrice Thivichon-Prince, Bruno Francou, Agnès Linglart, Justine Bacchetta, Arnaud Molin
Publikováno v:
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2022, ⟨10.1210/clinem/dgac639⟩
Journal of Clinical Endocrinology and Metabolism, 2022, 108 (4), pp.812-826. ⟨10.1210/clinem/dgac639⟩
Journal of Clinical Endocrinology and Metabolism, 2022, ⟨10.1210/clinem/dgac639⟩
Journal of Clinical Endocrinology and Metabolism, 2022, 108 (4), pp.812-826. ⟨10.1210/clinem/dgac639⟩
IntroductionVitamin D–dependent rickets type 1A (VDDR1A) is a rare genetic disease associated with loss-of-function variations in the gene encoding the vitamin D–activating enzyme 1α-hydroxylase (CYP27B1). Phenotype-genotype correlation is uncle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::300717995e9fb9696b79a8e9679f4cdc
https://pubmed.ncbi.nlm.nih.gov/36321535
https://pubmed.ncbi.nlm.nih.gov/36321535
Autor:
Felicia Baleanu, Taujan Georgiana, Mihaela Rosu, Olga Kosmopoulou, Blerta Papadopoulou, Emese Boros, Iconaru Laura
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::08a2638101dfab313754873eae6b00d3
https://doi.org/10.1530/endoabs.81.ep270
https://doi.org/10.1530/endoabs.81.ep270
Autor:
Claudine Heinrichs, Cécile Brachet, Julie Soblet, Caroline Gernay, Emese Boros, Catheline Vilain
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 33:1237-1240
Objectives Congenital hypogonadotropic hypogonadism (CHH) is a rare condition resulting from GnRH deficiency. Gonadotropin Releasing Hormone 1 (GNRH1) homozygous mutations are an extremely rare cause of normosmic CHH (nCHH). Most heterozygous individ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6777889ac182e1d7a1bb45f76f040e74
https://doi.org/10.1515/jpem-2020-0207
https://doi.org/10.1515/jpem-2020-0207