TSH Elevations as the First Laboratory Evidence for Pseudohypoparathyroidism Type Ib (PHP‐Ib) von Molinaro, Angelo, Tiosano, Dov, Takatani, Rieko, Chrysis, Dionisios, Russell, William, Koscielniak, Nikolas, Kottler, Marie‐Laure, Agretti, Patrizia, De Marco, Giuseppina, Ahtiainen, Petteri, Christov, Marta, Mäkitie, Outi, Tonacchera, Massimo, Jüppner, Harald

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A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B) von Grigelioniene, Giedre, Nevalainen, Pasi I, Reyes, Monica, Thiele, Susanne, Tafaj, Olta, Molinaro, Angelo, Takatani, Rieko, Ala‐Houhala, Marja, Nilsson, Daniel, Eisfeldt, Jesper, Lindstrand, Anna, Kottler, Marie‐Laure, Mäkitie, Outi, Jüppner, Harald

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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome von Soussi-Yanicostas, Nadia, Baverel, Françoise, Dupont, Jean-Michel, Cabrol, Sylvie, Levilliers, Jacqueline, Bouchard, Philippe, Kottler, Marie-Laure, Sanchez-Franco, Franco, Delmaghani, Sedigheh, Petit, Christine, Hardelin, Jean-Pierre, Delpech, Marc, De Paepe, Anne, Carel, Jean-Claude, Compain-Nouaille, Sylvie, Richard, Odile, Young, Jacques, Coimbra, Roney S, Goulet-Salmon, Barbara, Cruaud, Corinne, Le Tessier, Dominique, Vermeulen, Stefan, Delemarre-van de Waal, Henriette, Le Dû, Nathalie, Speleman, Frank, Saura, Robert, Bachelot, Yvan, Dodé, Catherine, Amalfitano, Andrea, Pêcheux, Christophe

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Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome von Jarzabek, K, Wolczynski, S, Lesniewicz, R, Plessis, G, Kottler, ML

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Paternal deletion of the GNAS imprinted locus (including ) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties von GENEVIEVE, David, SANLAVILLE, Damien, MUNNICH, Arnold, ROMANA, Serge, RAOUL, Odile, CORMIER-DAIRE, Valérie, VEKEMANS, Michel, FAIVRE, Laurence, KOTTLER, Marie-Laure, JAMBOU, Marguerite, GOSSET, Philippe, BOUSTANI-SAMARA, Dinane, PINTO, Graziella, OZILOU, Catherine, ABEGUILE, Geneviève

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Activating mutations of the calcium-sensing receptor : Management of hypocalcemia von LIENHARDT, Anne, MEI BAI, LAGARDE, Jean-Pierre, RIGAUD, Michel, ZAIXIANG ZHANG, YOUGFENG JIANG, KOTTLER, Marie-Laure, BROWN, Edward M, GARABEDIAN, Michèle

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Major hyperestrogenism in a feminizing adrenocortical adenoma despite a moderate overexpression of the aromatase enzyme von BOURAÏMA, Hélène, LIREUX, Barbara, MITTRE, Hervé, BENHAIM, Annie, HERROU, Michel, MAHOUDEAU, Jacques, GUILLON-METZ, Francoise, KOTTLER, Marie-Laure, REZNIK, Yves

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Fetal expression of GnRH and GnRH receptor genes in rat testis and ovary von Botte, MC, Chamagne, AM, Carre, MC, Counis, R, Kottler, ML

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GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: Genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance von LINGLART, Agnès, CAREL, Jean Claude, GARABEDIAN, Michèle, TRAN LE, MALLET, Eric, KOTTLER, Marie Laure

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Distinct mRNA, protein expression patterns and distribution of oestrogen receptors α and β in human primary breast cancer: Correlation with proliferation marker Ki-67 and clinicopa... von Jarzabek, Katarzyna, Koda, Mariusz, Kozlowski, Leszek, Mittre, Herve, Sulkowski, Stanislaw, Kottler, Marie-Laure, Wolczynski, Slawomir

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Tissue-specific pattern of variant transcripts of the human gonadotropin-releasing hormone receptor gene von KOTTLER, M.-L, BERGAMETTI, F, CARRE, M.-C, MORICE, S, DECORET, E, LAGARDE, J.-P, STARZEC, A, COUNIS, R

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Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration von CARON, P, CHAUVIN, S, CHRISTIN-MAITRE, S, BENNET, A, LAHLOU, N, COUNIS, R, BOUCHARD, P, KOTTLER, M.-L

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Hypersensibilité à la vitamine D : étude moléculaire d’une cohorte de 185 patients von Molin, A., Breton, P., Ballandonne, C., Coudray, N., Kottler, ML

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A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia von LIENHARDT, A, GARABEDIAN, M, MEI BAI, SINDING, C, ZAIXIANG ZHANG, LAGARDE, J.-P, BOULESTEIX, J, RIGAUD, M, BROWN, E. M, KOTTLER, M.-L

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LH down-regulates gonadotropin-releasing hormone (GnRH) receptor, but not GnRH, mRNA levels in the rat testis von Botte, MC, Lerrant, Y, Lozach, A, Berault, A, Counis, R, Kottler, ML

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Albright hereditary osteodystrophy: report of a particular clinical phenotype caused by a novel GNAS mutation von Alvarez, F, Kottler, ML, Paul, C, Gennero, I, Salles, JP, Mazereeuw-Hautier, J

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A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism : Chronic estrogen adminis... von KOTTLER, Marie-Laure, CHAUVIN, Stéphanie, LAHLOU, Najiba, HARRIS, Caroline E, JOHNSTON, Colin J, LAGARDE, Jean-Pierre, BOUCHARD, Philippe, FARID, Nadir R, COUNIS, Raymond

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Tryptophan Missense Mutation in the Ligand‐Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25‐Dihydroxyvitamin D von Nguyen, T. M., Adiceam, P., Kottler, M. L., Guillozo, H., Rizk‐Rabin, M., Brouillard, F., Lagier, P., Palix, C., Garnier, J. M., Garabedian, M.

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Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D‐ and L‐2 hydroxyglutaric aciduri... von Read, M.‐H., Bonamy, C., Laloum, D., Belloy, F., Constans, J. M., Guillois, B., Kottler, M.‐L., Verhoeven, N. M., Jakobs, C.

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A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene von Wołczynski, Sławomir, Laudanski, Piotr, Jarzabek, Katarzyna, Mittre, Herve, Lagarde, Jean-Pierre, Kottler, Marie-Laure

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