Effets indésirables des médicaments sur la croissance chez les enfants et les ­adolescents : cas de l’isotrétinoïne von Deladoey, Johnny

Volltext

Hot spot in the PROP1 gene responsible for combined pituitary hormone deficiency von DELADOËY, J, FLÜCK, C, BÜYÜKGEBIZ, A, KUHLMANN, B. V, EBLE, A, HINDMARSH, P. C, WEI WU, MULLIS, P. E

Volltext

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care von Sawyer, S.L., Hartley, T., Dyment, D.A., Beaulieu, C.L., Schwartzentruber, J., Smith, A., Bedford, H.M., Bernard, G., Bernier, F.P., Brais, B., Bulman, D.E., Warman Chardon, J., Chitayat, D., Deladoëy, J., Fernandez, B.A., Frosk, P., Geraghty, M.T., Gerull, B., Gibson, W., Gow, R.M., Graham, G.E., Green, J.S., Heon, E., Horvath, G., Innes, A.M., Jabado, N., Kim, R.H., Koenekoop, R.K., Khan, A., Lehmann, O.J., Mendoza-Londono, R., Michaud, J.L., Nikkel, S.M., Penney, L.S., Polychronakos, C., Richer, J., Rouleau, G.A., Samuels, M.E., Siu, V.M., Suchowersky, O., Tarnopolsky, M.A., Yoon, G., Zahir, F.R., Majewski, J., Boycott, K.M.

Volltext

Tricuspid regurgitation and abnormal aortic isthmic flow: prenatal manifestations of hyperthyroidism von Mendez, A., Bigras, J. L., Deladoëy, J., Hoberhoffer, F., Dery, J., Audibert, F., Raboisson, M. J.

Volltext

Correction to: Wide Spectrum of DUOX2 Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism by Dufort G, Larrivée-Vanier S, Eugène D, De Deken X, Seebauer B, Heinimann K, Lévesque S, Gravel S, Szinnai G, Van Vliet G, and Deladoëy J. Thyroid 2019;29:1018–1022. DOI: 10.1089/thy.2018.0461

Volltext

Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg→Cys at codon 120 (R120C) von FLÜCK, C, DELADOEY, J, RUTISHAUSER, K, EBLE, A, MARTI, U, WEI WU, MULLIS, P. E

Volltext

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism von Stoppa-Vaucher, S, Ayabe, T, Paquette, J, Patey, N, Francoeur, D, Vuissoz, J-M, Deladoëy, J, Samuels, ME, Ogata, T, Deal, CL

Volltext

Correction to: Wide Spectrum of DUOX2 Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism by Dufort G, Larrivée-Vanier S, Eugène D, De Deken X, Seebauer B, Heinimann K, Lévesque S, Gravel S, Szinnai G, Van Vliet G, and Deladoëy J. Thyroid 2019;29:1018-1022

Volltext

Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Δ/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP... von FLÜCK, Christa E, DELADOËY, Johnny, NAYAK, Sujatha, ZELLER, Oliver, KOPP, Peter, MULLIS, Primus E

Volltext

Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation : Clinical and molecular evidence of impaired regulated GH secretion von DELADOËY, Johnny, STOCKER, Philipp, MULLIS, Primus E

Volltext

Aromatase deficiency caused by a novel P450arom gene mutation : Impact of absent estrogen production on serum gonadotropin concentration in a boy von DELADOEY, J, FLUCK, C, BEX, M, YOSHIMURA, N, HARADA, N, MULLIS, P. E

Volltext

Clinical Case Seminar in Pediatric Thyroid Disease von Szinnai, G., Léger, J., Bauer, A.J., Pearce, E.N., Ramos, H.E., Canalli, M.H., Onigata, K., Elisei, R., Radetti, G., Polak, M., Van Vliet, G., Deladoëy, J.

Volltext

Isolated Autosomal Dominant Growth Hormone Deficiency: An Evolving Pituitary Deficit? A Multicenter Follow-Up Study von Mullis, Primus E., Robinson, Iain C. A. F., Salemi, Souzan, Eblé, Andrée, Besson, Amélie, Vuissoz, Jean-Marc, Deladoey, Johnny, Simon, Dominique, Czernichow, Paul, Binder, Gerhard

Volltext

Short Stature Caused by a Biologically Inactive Mutant Growth Hormone (GH-C53S) von Besson, Amélie, Salemi, Souzan, Deladoëy, Johnny, Vuissoz, Jean-Marc, Eblé, Andrée, Bidlingmaier, Martin, Bürgi, Sibylle, Honegger, Ulrich, Flück, Christa, Mullis, Primus E.

Volltext

Impact of del32–71-GH (Exon 3 Skipped GH) on Intracellular GH Distribution, Secretion and Cell Viability: A Quantitative Confocal Microscopy Analysis von Salemi, Souzan, Yousefi, Shida, Eblé, Andrée, Deladoëy, Johnny, Mullis, Primus-E.

Volltext

Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line von Nuoffer, JM, Fluck, C, Deladoey, J, Eble, A, Dattani, MT, Mullis, PE

Volltext

Possible Non-Mendelian Mechanisms of Thyroid Dysgenesis von Deladoëy, Johnny, Vassart, Gilbert, Van Vliet, Guy

Volltext

Molecular and Cellular Basis of Isolated Dominant-Negative Growth Hormone Deficiency, IGHD Type II: Insights on the Secretory Pathway of Peptide Hormones von Mullis, Primus-E., Deladoëy, Johnny, Dannies, Priscilla S.

Volltext

Congenital Secondary Hypothyroidism Due to a Mutation C105Vfs114X Thyrotropin-β Mutation: Genetic Study of Five Unrelated Families from Switzerland and Argentina von Deladoëy, Johnny, Vuissoz, Jean-Marc, Domené, Horacio M., Malik, Naseem, Gruneiro-Papendieck, Laura, Chiesa, Ana, Heinrich, Juan J., Mullis, Primus E.

Volltext

Tricuspid regurgitation and abnormal isthmic flow: prenatal manifestations of hyperthyroidism von Mendez, A, Bigras, J L, Deladoëy, J, Hoberhoffer, F, Dery, J, Audibert, F, Raboisson, M J

Volltext