Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity von Blons, H, Feldmann, D, Duval, V, Messaz, O, Denoyelle, F, Loundon, N, Sergout-Allaoui, A, Houang, M, Duriez, F, Lacombe, D, Delobel, B, Leman, J, Catros, H, Journel, H, Drouin-Garraud, V, Obstoy, M-F, Toutain, A, Oden, S, Toublanc, JE, Couderc, R, Petit, C, Garabédian, E-N, Marlin, S

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Guidelines for neonatal screening programs for congenital hypothyroidism von Toublanc, JE

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Four families with loss of function mutations of the thyrotropin receptor von DE ROUX, N, MISRAHI, M, MILGROM, E, BRAUNER, R, HOUANG, M, CAREL, J. C, GRANIER, M, LE BOUC, Y, GHINEA, N, BOUMEDIENNE, A, TOUBLANC, J. E

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Townes-Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient von Marlin, Sandrine, Blanchard, Stéphane, Slim, Rima, Lacombe, Didier, Denoyelle, Françoise, Alessandri, Jean-Louis, Calzolari, Elisa, Drouin-Garraud, Valérie, Ferraz, F.G., Fourmaintraux, Alain, Philip, Nicole, Toublanc, Jean-Edmond, Petit, Christine

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Adult Height in Congenital Hypothyroidism: Prognostic Factors and the Importance of Compliance with Treatment von Bain, Philippa, Toublanc, Jean-Edmond

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Revised Guidelines for Neonatal Screening Programmes for Primary Congenital Hypothyroidism

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Modifications of Growth Hormone Secretion during Female Puberty von TOUBLANC, J. E.

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Scholarly and occupational outcomes of the first patients screened in France for congenital hypothyroidism von Toublanc, Jean Edmond, Rives, Solange, Boileau, Pascal

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Procedure for Neonatal Screening for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency von Honour, JW, Torresani, T, Toublanc, JE, Larsson, A, Grueters-Kieslich, A, Giovanelli, G, Donaldson, M, Ferrandez-Longas, A, Klett, M, Hnikova, O, Schrama, SMPFDK

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A possible common origin of Y-negativë human XX males and XX true hermaphrodites von EDDINE ABBAS, N, TOUBLANC, J. E, CHAFIKA BOUCEKKINE, TOUBLANC, M, AFFARA, N. A, JOB, J.-C, FELLOUS, M

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Résultats des tests nationaux d'évaluation (scolarité primaire) de CE2 et de 6 e chez 73 élèves hypothyroïdiens congénitaux dépistés à la naissance von Toublanc, JE, Riblier, E, Rives, S

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Résultats des tests nationaux d'évaluation (scolarité primaire) de CE2 et de 6e chez 73 élèves hypothyroïdiens congénitaux dépistés à la naissance von TOUBLANC, J. E, RIBLIER, E, RIVES, S

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A thyroxine dosage of 8 μg/kg per day is appropriate for the initial treatment of the majority of infants with congenital hypothyroidism von TOUATI, G, LEGER, J, TOUBLANC, J. E, FARRIAUX, J. P, STUCKENS, C, PONTE, C, DAVID, M, ROCHICCIOLI, P, PORQUET, D, CZERNICHOW, P

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Two cases of Townes-Brocks syndrome with previously undescribed anomalies von Marlin, S, Toublanc, J E, Petit, C

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Guidelines for neonatal screening programmes for congenital hypothyroidism von Grüters, A., Delange, F., Giovannelli, G., Klett, M., Rochiccioli, P., Torresani, T., Grant, D., Hnikova, O., Maenpää, J., Rondanim, G. F., Toublanc, J. E.

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Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation von Toublanc, J E, Boucekkine, C, Abbas, N, Barama, D, Vilain, E, McElreavey, K, Toublanc, M, Fellous, M

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Three-year data from a comparative study with recombinant human growth hormone in the treatment of short stature in young children with intrauterine growth retardation von Fjellestad-Paulsen, A, Czernichow, P, Brauner, R, Bost, M, Colle, M, Lebouc, JY, Lecornu, M, Leheup, B, Limal, JM, Raux, MC, Toublanc, JE, Rappaport, R

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Prenatal prediction of androgen insensitivity syndrome using exon 1 polymorphism of the androgen receptor gene von Lobaccaro, Jean Marc, Lumbroso, Serge, Pigeon, Françoise Carré, Chaussain, Jean-Louis, Toublanc, Jean-Edmond, Job, Jean-Claude, Olewniczack, Georges, Boulot, Pierre, Sultan, Charles

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Le rôle du biologiste dans l'exploration de la puberté et de ses troubles von Toublanc, JE, Georges, P

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Presence of an acid-labile alpha-interferon in sera from fetuses and children with congenital rubella von LEBON, P, DAFFOS, F, CHECOURY, A, GRANGEOT-KEROS, L, FORESTIER, F, TOUBLANC, J. E

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