Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Jean Edmond Toublanc"'
Autor:
Juliane, Léger, Emmanuel, Ecosse, Michel, Roussey, Jean Louis, Lanoë, Béatrice, Larroque, Jean Edmond, Toublanc
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 96:1771-1782
Screening programs resulting in the early treatment of patients with congenital hypothyroidism (CH) have successfully improved neurodevelopmental outcome, but little is known about long-term health.The aim of the study was to assess health status, an
Publikováno v:
Bulletin de l'Académie Nationale de Médecine. 189:87-98
A population of 74 young adults born between 1 Jan. 1979 and 30 June 1985 who were screened at birth for congenital hypothyroidism received a questionnaire on their scholastic and occupational achievements in June 2003. The response rate was 74% (49
Autor:
Philippa Bain, Jean-Edmond Toublanc
Publikováno v:
Hormone Research in Paediatrics. 58:136-142
Objective: To study the growth, puberty and compliance of 66 hypothyroid children and to determine prognostic factors for adult height. Patients: 66 children were included (12 boys, 54 girls). Aetiologies were 43 ectopic glands, 14 thyroid agenesis,
Publikováno v:
Clinical Dysmorphology. 7:295-298
Townes-Brocks syndrome is characterized by the association of anorectal, radial ray and outer ear malformations and deafness. We describe two patients affected with several typical clinical signs of Townes-Brocks syndrome in addition to growth and pu
Autor:
J. Pozo, Toshio Morise, Peter Brostedt, Marino Giacometti, H. Matzkin, S. González-Parra, D. Larizza, Ryoyu Takeda, Giulio Sergio Roi, Hans-Peter Ekre, A. Jaffe, L. Vitali, Jean-Claude Job, Marguerite Luthman, Frédéric A. van den Brûle, Peter Perlmann, S. Mancuso, Yoshihiro Takeuchi, F. Zelaschi, Ulysse J. Gaspard, María Luisa Celadilla, Ana Maria Sequera, Berthold P. Hauffa, E. Ronsisvalle, N. Di Simone, José Manuel Fernández-Real, Jean Edmond Toublanc, Matilde Holland, Ingileif Jónsdóttir, Jacques Bourque, Herbert Stolecke, R. Lorini, Hugo R. Boquete, Bo Skoog, S. Gilad, Hugo L. Fideleff, Paul Roos, Fabienne Landier, Marcello Marinelli, B. di Natale, S. Ackermann, H. Hernandez, Wifredo Ricart-Engel, Giuseppe Banfi, R. De Angelis, V. Barrios, Sigbritt Werner, A. Caruso, JeanF. Hustin, Norma Saskyn, M.T. Muñoz, A. Lanzone, A.M. Fulghesu, Pierangelo Bonini, C. Pellini, J. Argente, Alberto Cohen, G. Chiumello, John A. Phillips, N. Stern, Rafael Simó
Publikováno v:
Hormone Research. 41:I-IV
Autor:
Jean-Claude Job, Françoise Carré Pigeon, Charles Sultan, Pierre Boulot, Jean-Marc A. Lobaccaro, Jean-Edmond Toublanc, Serge Lumbroso, Georges Olewniczack, Jean-Louis Chaussain
Publikováno v:
The Journal of Steroid Biochemistry and Molecular Biology. 43:659-663
Exon 1 polymorphism of the androgen receptor (AR) gene is characterized by a (CAG)n(CAA) repeat at position 172 following the translation start codon. The aim of this study was to determine whether AR gene exon 1 polymorphism could be used to perform
Autor:
G. Magnin, L. Larget-Piet, Charles Belon, R Moustarih, M. Vanderschueren, S. Bernasconi, J C Job, Jean-Edmond Toublanc, P. Lecomte, A Terraza, H. Chaabouni, D. Schoenberg, J M Lobaccaro, N. Bouccekine, M. Bost, Mongia Hachicha, Margherita Bozzola, P Rochiccioli, Ch. Sultan, Jean-Louis Chaussain, J M Limal, Michael B. Ranke, C. Burési, C. Moraine, J L Nivelon, G Malpuech, J Battin
Publikováno v:
Hormone Research. 37:54-59
In patients with androgen insensitivity syndrome (AIS), RFLP study of the androgen receptor gene made it possible to analyze whether deletions or mutations could be responsible for abnormalities in androgen responsiveness. We studied RFLPs of DNA fro
Publikováno v:
Hormone research. 61(5)
Objective: To determine between timing and LT4 dose which was the more important factor for IQ at 7 years in screened congenital hypothyroidism (CH). Methods: 131 children with CH born from 1979 to 1994 and 30 controls were studied. Mean age at recal
Autor:
Jean-Edmond, Toublanc
Publikováno v:
La Revue du praticien. 52(10)
Autor:
Jean-Marc A. Lobaccaro, Georges Olewniczack, Jean-Claude Job, Françoise Carré‐Pigeon, Charles Sultan, Charles Belon, Jean-Louis Chaussain, Jean-Edmond Toublanc, Serge Lumbroso
Publikováno v:
Clinical endocrinology. 40(3)
Summary OBJECTIVE Partial androgen Insensitivity syndromes are the cause of genital ambiguity that is at times quite severe; there is, therefore, a high demand for prenatal diagnosis in families already afflicted with this syndrome. When the mutation