Zobrazeno 1 - 10 of 50 pro vyhledávání: '"Micheline Gourmelen"'
1
Genetic, Biochemical, and Clinical Studies of Patients With A328V or R213C Mutations in 11βHSD2 Causing Apparent Mineralocorticoid Excess
Autor: Jean Fiet, Hervé Galons, Ahmed Boudi, Micheline Gourmelen, Gilles Morineau, Leigh Pascoe, Jean-Michel Marc, Pierre Corvol
Publikováno v: Hypertension. 34:435-441
Abstract —Apparent mineralocorticoid excess is a recessively inherited hypertensive syndrome caused by mutations in the 11β-hydroxysteroid dehydrogenase type 2 gene, which encodes the enzyme normally responsible for converting cortisol to inactive
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68d5b7d4be16ec705a07bad5752e6814
https://doi.org/10.1161/01.hyp.34.3.435
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2
The Cortisol-Cortisone Shuttle in Children Born with Intrauterine Growth Retardation
Autor: Jean Fiet, Yves Le Bouc, Muriel Houang, Micheline Gourmelen, Gilles Morineau
Publikováno v: Pediatric Research. 46:189-193
We evaluated the involvement of a possible dysfunction of 11beta-hydroxysteroid dehydrogenase type 2 (11beta-HSD2) in the fetal growth retardation and poor growth rates of children born with intrauterine growth retardation (IUGR). Children with IUGR
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4413a3ca6c97e52b9f79d1c7b7b3a01
https://doi.org/10.1203/00006450-199908000-00011
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3
The Beckwith-Wiedemann syndrome phenotype and the risk of cancer
Autor: S Cabrol, Micheline Gourmelen, H Schneid, C. Vacher, Y. Le Bouc, Marie-Paule Vazquez
Publikováno v: Medical and Pediatric Oncology. 28:411-415
Beckwith-Wiedermann syndrome (BWS) comprises of a number of childhood abnormalities, often associated with one or more tumors. Thirty-eight patients were investigated to determine clinical and/or biological signs associated with a tumor presence. Our
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8e60fc3a897e05698ceaa75ab2c941d0
https://doi.org/10.1002/(sici)1096-911x(199706)28:6<411::aid-mpo3>3.0.co
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4
Syndrome de Turner: croissance staturopondérale et maturation osseuse spontanées
Autor: Micheline Gourmelen, C Saab, Y Le Bouc, S Cabrol, M C Raux-Demay
Publikováno v: Archives de Pédiatrie. 3:313-318
Resume Puisque le traitement par hormone de croissance des turneriennes a une certaine efficacite, il est important de disposer de courbes de croissance et de maturation osseuse chez un grand nombre de patientes non traitees. Population et methodes.-
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a05ca2bd63b4711673f0931402da8cf9
https://doi.org/10.1016/0929-693x(96)84683-5
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5
Les IGFs (insulin like growth factors) et leurs protéines de liaison (IGFBPs)
Autor: Micheline Gourmelen, S Cabrol, L Perin, Y Le Bouc
Publikováno v: Journal de Pédiatrie et de Puériculture. 9:407-412
Les IGFs (IGF I, autrefois appelee somatomedine C, et IGF II) sont presents dans les milieux biologiques des mammiferes, associes a des proteines de liaison (IGFBPs) qui en controlent la biodisponibilite. Principalement secrete par le foie, IGF I ser
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f3c6b9401af1dab56eec4d7896fb69e7
https://doi.org/10.1016/s0987-7983(96)80123-x
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6
Nutritional Status and Growth Hormone-Binding Protein
Autor: Charles Saab, Marie-Catherine Postel-Vinay, Micheline Gourmelen
Publikováno v: Hormone Research. 44:177-181
To study the effects of nutrition on growth hormone (GH) receptor status, the plasma GH-binding protein was evaluated under conditions of poor nutrition, anorexia nervosa, celiac disease, and obesity. Nine patients, aged 12-30 years, presented anorex
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a551e15886896bf2e4e119a9d44afbe
https://doi.org/10.1159/000184621
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7
Insulin-Like Growth Factor-I Gene Analysis in Subjects with Constitutionally Variant Stature
Autor: S Cabrol, M C Raux-Demay, Micheline Gourmelen, Danielle Seurin, Michel Binoux, H Schneid, François Girard, Y. Le Bouc
Publikováno v: Pediatric Research. 27:488-491
The IGF-I gene from leukocyte DNA of a control population of normal stature was studied using Southern blotting. Restriction fragment lengths for 21 enzymes were determined and three restriction fragment length polymorphisms (RFLP) were found (EcoRV,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd60a36cc2ea6e14d62cba104139c6ba
https://doi.org/10.1203/00006450-199005000-00014
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9
Hypogonadotrophic Hypogonadism Associated with Prelingual Deafness due to a Connexin 26 Gene Mutation
Autor: Micheline Gourmelen, Françoise Denoyelle, E. N. Garabedian, Muriel Houang, L. Moatti, Y. Le Bouc
Publikováno v: Journal of Pediatric Endocrinology and Metabolism. 15
In Mediterranean countries, almost half the incidence of non-syndromic congenital hearing loss is caused by mutations in the gap junction (GJ) connexin 26 gene (GJB2/DFNB1 locus). In this form of deafness the cochlear defect is usually isolated. We d
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f32edba2dbf5c3b6c335ffaed7339d9
https://doi.org/10.1515/jpem.2002.15.2.219
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