A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)
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
Published in Journal of bone and mineral research (01.04.2017)
Published in Journal of bone and mineral research (01.04.2017)
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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
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
Published in Nature genetics (01.04.2003)
Published in Nature genetics (01.04.2003)
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TSH Elevations as the First Laboratory Evidence for Pseudohypoparathyroidism Type Ib (PHP‐Ib)
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
Published in Journal of bone and mineral research (01.05.2015)
Published in Journal of bone and mineral research (01.05.2015)
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Major hyperestrogenism in a feminizing adrenocortical adenoma despite a moderate overexpression of the aromatase enzyme
BOURAÏMA, Hélène, LIREUX, Barbara, MITTRE, Hervé, BENHAIM, Annie, HERROU, Michel, MAHOUDEAU, Jacques, GUILLON-METZ, Francoise, KOTTLER, Marie-Laure, REZNIK, Yves
Published in European journal of endocrinology (01.04.2003)
Published in European journal of endocrinology (01.04.2003)
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Fetal expression of GnRH and GnRH receptor genes in rat testis and ovary
Botte, MC, Chamagne, AM, Carre, MC, Counis, R, Kottler, ML
Published in Journal of endocrinology (01.10.1998)
Published in Journal of endocrinology (01.10.1998)
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GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: Genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance
LINGLART, Agnès, CAREL, Jean Claude, GARABEDIAN, Michèle, TRAN LE, MALLET, Eric, KOTTLER, Marie Laure
Published in The journal of clinical endocrinology and metabolism (2002)
Published in The journal of clinical endocrinology and metabolism (2002)
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Hypersensibilité à la vitamine D : étude moléculaire d’une cohorte de 185 patients
Molin, A., Breton, P., Ballandonne, C., Coudray, N., Kottler, ML
Published in Annales d'endocrinologie (01.09.2018)
Published in Annales d'endocrinologie (01.09.2018)
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LH down-regulates gonadotropin-releasing hormone (GnRH) receptor, but not GnRH, mRNA levels in the rat testis
Botte, MC, Lerrant, Y, Lozach, A, Berault, A, Counis, R, Kottler, ML
Published in Journal of endocrinology (01.09.1999)
Published in Journal of endocrinology (01.09.1999)
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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 clinicopathological factors
Jarzabek, Katarzyna, Koda, Mariusz, Kozlowski, Leszek, Mittre, Herve, Sulkowski, Stanislaw, Kottler, Marie-Laure, Wolczynski, Slawomir
Published in European journal of cancer (1990) (01.12.2005)
Published in European journal of cancer (1990) (01.12.2005)
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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
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
Published in European journal of human genetics : EJHG (01.09.2005)
Published in European journal of human genetics : EJHG (01.09.2005)
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Activating mutations of the calcium-sensing receptor : Management of hypocalcemia
LIENHARDT, Anne, MEI BAI, LAGARDE, Jean-Pierre, RIGAUD, Michel, ZAIXIANG ZHANG, YOUGFENG JIANG, KOTTLER, Marie-Laure, BROWN, Edward M, GARABEDIAN, Michèle
Published in The journal of clinical endocrinology and metabolism (01.11.2001)
Published in The journal of clinical endocrinology and metabolism (01.11.2001)
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Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration
CARON, P, CHAUVIN, S, CHRISTIN-MAITRE, S, BENNET, A, LAHLOU, N, COUNIS, R, BOUCHARD, P, KOTTLER, M.-L
Published in The journal of clinical endocrinology and metabolism (01.03.1999)
Published in The journal of clinical endocrinology and metabolism (01.03.1999)
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Albright hereditary osteodystrophy: report of a particular clinical phenotype caused by a novel GNAS mutation
Alvarez, F, Kottler, ML, Paul, C, Gennero, I, Salles, JP, Mazereeuw-Hautier, J
Published in Journal of the European Academy of Dermatology and Venereology (01.08.2010)
Published in Journal of the European Academy of Dermatology and Venereology (01.08.2010)
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Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene
Dewailly, Didier, Boucher, Anne, Decanter, Christine, Lagarde, Jean Pierre, Counis, Raymond, Kottler, Marie-Laure
Published in Fertility and sterility (01.06.2002)
Published in Fertility and sterility (01.06.2002)
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A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene
Wołczynski, Sławomir, Laudanski, Piotr, Jarzabek, Katarzyna, Mittre, Herve, Lagarde, Jean-Pierre, Kottler, Marie-Laure
Published in Fertility and sterility (01.02.2003)
Published in Fertility and sterility (01.02.2003)
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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
LIENHARDT, A, GARABEDIAN, M, MEI BAI, SINDING, C, ZAIXIANG ZHANG, LAGARDE, J.-P, BOULESTEIX, J, RIGAUD, M, BROWN, E. M, KOTTLER, M.-L
Published in The journal of clinical endocrinology and metabolism (01.04.2000)
Published in The journal of clinical endocrinology and metabolism (01.04.2000)
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Journal Article
A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism : Chronic estrogen administration amplifies the gonadotropin defect
KOTTLER, Marie-Laure, CHAUVIN, Stéphanie, LAHLOU, Najiba, HARRIS, Caroline E, JOHNSTON, Colin J, LAGARDE, Jean-Pierre, BOUCHARD, Philippe, FARID, Nadir R, COUNIS, Raymond
Published in The journal of clinical endocrinology and metabolism (01.09.2000)
Published in The journal of clinical endocrinology and metabolism (01.09.2000)
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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
Nguyen, T. M., Adiceam, P., Kottler, M. L., Guillozo, H., Rizk‐Rabin, M., Brouillard, F., Lagier, P., Palix, C., Garnier, J. M., Garabedian, M.
Published in Journal of bone and mineral research (01.09.2002)
Published in Journal of bone and mineral research (01.09.2002)
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