Zobrazeno 1 - 10 of 87 pro vyhledávání: '"H Crosnier"'
1
X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood
Autor: Elodie Fiot, Delphine Zénaty, Priscilla Boizeau, Jérémie Haignere, Sophie Dos Santos, Juliane Léger, J C Carel, S Cabrol, P Chanson, S Christin-Maitre, C Courtillot, B Donadille, J Dulon, M Houang, M Nedelcu, I Netchine, M Polak, S Salenave, D Samara-Boustani, D Simon, P Touraine, M Viaud, H Bony, K Braun, R Desailloud, A M Bertrand, B Mignot, F Schillo, P Barat, V Kerlan, C Metz, E Sonnet, Y Reznik, V Ribault, H Carla, I Tauveron, C Bensignor, F Huet, B Verges, O Chabre, C Dupuis, A Spiteri, M Cartigny, C Stuckens, J Weill, A Lienhardt, C Naud-Saudreau, F Borson-Chazot, A Brac de la Perriere, M Pugeat, T Brue, R Reynaud, G Simonin, F Paris, C Sultan, B Leheup, G Weryha, S Baron, B Charbonnel, S Dubourdieu, E Baechler, P Fenichel, K Wagner, F Compain, H Crosnier, C Personnier, B Delemer, A C Hecart, P F Souchon, M De Kerdanet, F Galland, S Nivot-Adamiak, M Castanet, C Lecointre, O Richard, N Jeandidier, S Soskin, P Lecomte, M Pepin-Donat, P Pierre
Publikováno v: European Journal of Endocrinology
European Journal of Endocrinology, 2019, 180 (6), pp.397-406. ⟨10.1530/EJE-18-0878⟩
European Journal of Endocrinology, BioScientifica, 2019, 180 (6), pp.397-406. ⟨10.1530/EJE-18-0878⟩
ObjectiveTurner Syndrome is associated with several phenotypic conditions associated with a higher risk of subsequent comorbidity. We aimed to evaluate the prevalence of congenital malformations and the occurrence of age-related comorbid conditions a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90141f9c76344ac051168fc9f8ff886a
https://doi.org/10.1530/eje-18-0878
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2
Birth of a boy with isolated short stature after prenatal diagnosis of a Xp22.3 nullosomy due to an inherited t(X;15) (p22.3;p10) translocation
Autor: P. Bouhanna, Eleonore Blondeel, D. Fauvert, H. Dessuant, François Vialard, H. Crosnier, D. Molina-Gomes
Publikováno v: Clinical Case Reports
Key Clinical Message Translocations between X and acrocentric chromosomes are rare. We report on the inheritance of a familial t(X;15)(p22.3;p10) translocation in a fetus referred for short long bones. Cytogenetic analysis revealed an unbalanced tran
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce618770338f14a94439fc4b9547028b
https://doi.org/10.1002/ccr3.71
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3
Expérience des parents sur l’intégration des jeunes enfants diabétiques traités par pompe à insuline en crèche et à l’école : enquête en région Ile-de-France
Autor: N. Tubiana-Rufi, H. Crosnier
Publikováno v: Archives de Pédiatrie. 20:S149-S156
Resume L’incidence du diabete de type 1 chez les tres jeunes enfants est en augmentation et ces enfants sont de plus en plus souvent traites par pompe a insuline. L’experience des parents sur l’integration de leur enfant en collectivite et a l
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7352dac882e7de217bf875f7990235d0
https://doi.org/10.1016/s0929-693x(13)71430-1
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4
Variable outcome of growth hormone administration in respiratory chain deficiency
Autor: Agnès Rötig, S. Romano, D. Samara, Michel Polak, H. Crosnier, P. de Lonlay, Vassili Valayannopoulos, Raja Brauner, Dominique Chretien, Arnold Munnich
Publikováno v: Molecular Genetics and Metabolism. 93:195-199
Genetic defects of oxidative phosphorylation (OXPHOS) are known to account for a variety of neuromuscular and non-neuromuscular symptoms in childhood, including growth hormone (GH) deficiency. However GH administration for GH deficiency is controvers
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0c27321d2ef792917e9db020a56a3d0
https://doi.org/10.1016/j.ymgme.2007.09.007
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5
[Integration to school of young children with type 1 diabetes on insulin pump therapy: parent's feed-back]
Autor: H, Crosnier, N, Tubiana-Rufi
Publikováno v: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 20
There is an increase in the incidence of type 1 diabetes (T1D) in children younger than 5 years of age and continuous subcutaneous insulin infusion (CSII) appears to be an increasingly popular therapeutic option in France. A retrospective self-evalua
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::33b53ca0707096b79437dccfd6e7cbaf
https://pubmed.ncbi.nlm.nih.gov/24360367
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6
Modalités du passage des adolescents diabétiques de la pédiatrie aux structures pour adultes dans la région Paris-Île-de-France: un appel au travail collaboratif pour améliorer la qualité des soins
Autor: H Crosnier, N Tubiana-Rufi
Publikováno v: Archives de Pédiatrie. 5:1327-1333
Resume L'objectif de cette etude est d'evaluer les conditions du transfert des adolescents diabetiques de la pediatrie vers les structures de soins pour adultes et de recueillir l'opinion sur celles-ci des medecins concernes. Methode Une enquete par
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a5379f8c42d3ef4f88bccf01ee43ced3
https://doi.org/10.1016/s0929-693x(99)80050-5
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9
Plasma growth hormone-binding activity is low in uraemic children
Autor: Raphaël Rappaport, H. Crosnier, Otto Mehls, Marie-Catherine Postel-Vinay, A. Tar, Burkhard Tönshoff, Michel Broyer
Publikováno v: Pediatric Nephrology. 5:545-547
Plasma growth hormone-binding protein (GH-BP) activity was evaluated in two groups of prepubertal children with chronic renal failure (CRF) who had been treated with recombinant human GH (rhGH). Group 1 consisted of eight children (mean chronological
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::408e16e5a54b1774cc7ef63705ff6eed
https://doi.org/10.1007/bf01453698
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10
[Modalities of transition of diabetic adolescents from pediatrics to the adult care in the Paris-Ile-de-France region: an appeal to cooperative work for improving quality of care. Paris-Ile-de-France Section of DESG (Diabetes Education Study Group) in French language]
Autor: H, Crosnier, N, Tubiana-Rufi
Publikováno v: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 5(12)
The purpose of this study was to evaluate the conditions in which diabetic adolescents are transferred from pediatric to adult health care, and to record the opinions of the physicians about this issue.A questionnaire-based study was performed among
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bb62aaad84f4dd5a8a00979b2b1ed5ec
https://pubmed.ncbi.nlm.nih.gov/9885738
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