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Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
Haffner Dieter, Francesco, Emma, Eastwood, Deborah M, Duplan Martin Biosse, Bacchetta Justine, Schnabel, Dirk, Wicart Philippe, Bockenhauer Detlef, Santos, Fernando, Levtchenko Elena, Harvengt Pol, Kirchhoff, Martha, Di Rocco Federico, Chaussain Catherine, Brandi Maria Louisa, Savendahl Lars, Briot Karine, Kamenicky, Peter, Rejnmark Lars, Linglart Agnès
Published in Nature reviews. Nephrology (01.07.2019)
Published in Nature reviews. Nephrology (01.07.2019)
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Journal Article
The Global ALPL gene variant classification project: Dedicated to deciphering variants
Farman, Mariam R., Rehder, Catherine, Malli, Theodora, Rockman-Greenberg, Cheryl, Dahir, Kathryn, Martos-Moreno, Gabriel Ángel, Linglart, Agnès, Ozono, Keiichi, Seefried, Lothar, del Angel, Guillermo, Webersinke, Gerald, Barbazza, Francesca, John, Lisa K., Delana Mudiyanselage, Sewmi M.A., Högler, Florian, Nading, Erica Burner, Huggins, Erin, Rush, Eric T., El-Gazzar, Ahmed, Kishnani, Priya S., Högler, Wolfgang
Published in Bone (01.01.2024)
Published in Bone (01.01.2024)
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Journal Article
Recurrent PRKAR1A Mutation in Acrodysostosis with Hormone Resistance
Linglart, Agnès, Menguy, Christine, Couvineau, Alain, Auzan, Colette, Gunes, Yasemin, Cancel, Mathilde, Motte, Emmanuelle, Pinto, Graziella, Chanson, Philippe, Bougnères, Pierre, Clauser, Eric, Silve, Caroline
Published in The New England journal of medicine (09.06.2011)
Published in The New England journal of medicine (09.06.2011)
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Journal Article
Endocrine Manifestations of the Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neural Tumor Syndrome in Childhood
Bougnères, Pierre, Pantalone, Letitia, Linglart, Agnès, Rothenbühler, Anya, Le Stunff, Catherine
Published in The journal of clinical endocrinology and metabolism (01.10.2008)
Published in The journal of clinical endocrinology and metabolism (01.10.2008)
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Journal Article
Imaging patterns in pediatric hypophosphatasia
Mannes, Inès, Rothenbuhler, Anya, Merzoug, Valérie, Di Rocco, Federico, Linglart, Agnès, Adamsbaum, Catherine
Published in Pediatric radiology (01.05.2022)
Published in Pediatric radiology (01.05.2022)
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Journal Article
Kidney Function and Influence of Sunlight Exposure in Patients With Impaired 24-Hydroxylation of Vitamin D Due to CYP24A1 Mutations
Figueres, Marie-Lucile, Linglart, Agnès, Bienaime, Frank, Allain-Launay, Emma, Roussey-Kessler, Gwenaelle, Ryckewaert, Amélie, Kottler, Marie-Laure, Hourmant, Maryvonne
Published in American journal of kidney diseases (01.01.2015)
Published in American journal of kidney diseases (01.01.2015)
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Journal Article
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early‐Onset Obesity
Hanna, Patrick, Grybek, Virginie, Perez de Nanclares, Guiomar, Tran, Léa C, de Sanctis, Luisa, Elli, Francesca, Errea, Javier, Francou, Bruno, Kamenicky, Peter, Linglart, Léa, Pereda, Arrate, Rothenbuhler, Anya, Tessaris, Daniele, Thiele, Susanne, Usardi, Alessia, Shoemaker, Ashley H, Kottler, Marie‐Laure, Jüppner, Harald, Mantovani, Giovanna, Linglart, Agnès
Published in Journal of bone and mineral research (01.08.2018)
Published in Journal of bone and mineral research (01.08.2018)
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Journal Article
Response to Letter to the Editor From Virú-Loza and Chávez-Nomberto: “Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort”
Maghnie, Mohamad, Ranke, Michael B, Geffner, Mitchell E, Vlachopapadopoulou, Elpis, Ibáñez, Lourdes, Carlsson, Martin, Cutfield, Wayne, Rooman, Raoul, Gomez, Roy, Wajnrajch, Michael P, Linglart, Agnès, Stawerska, Renata, Clayton, Peter E, Darendeliler, Feyza, Hokken-Koelega, Anita C S, Horikawa, Reiko, Tanaka, Toshiaki, Dörr, Helmuth-Günther, Albertsson-Wikland, Kerstin, Polak, Michel, Grimberg, Adda
Published in The Journal of Clinical Endocrinology & Metabolism (01.06.2023)
Published in The Journal of Clinical Endocrinology & Metabolism (01.06.2023)
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Journal Article
A Maternal Epimutation of GNAS Leads to Albright Osteodystrophy and Parathyroid Hormone Resistance
Mariot, Virginie, Maupetit-Méhouas, Stéphanie, Sinding, Christiane, Kottler, Marie-Laure, Linglart, Agnès
Published in The journal of clinical endocrinology and metabolism (01.03.2008)
Published in The journal of clinical endocrinology and metabolism (01.03.2008)
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Journal Article
Chromosome 14q32.2 imprinted region disruption as an alternative molecular diagnosis of Silver-Russell Syndrome
Geoffron, Sophie, Abi Habib, Walid, Chantot-Bastaraud, Sandra, Dubern, Béatrice, Steunou, Virginie, Azzi, Salah, Afenjar, Alexandra, Busa, Tiffanny, Canton, Ana P, Chalouhi, Christel, Dufourg, Marie-Noëlle, Esteva, Blandine, Fradin, Mélanie, Geneviève, David, Heide, Solveig, Isidor, Bertrand, Linglart, Agnès, Morice Picard, Fanny, Naud-Saudreau, Catherine, Oliver Petit, Isabelle, Philip, Nicole, Pienkowski, Catherine, Rio, Marlène, Rossignol, Sylvie, Tauber, Maithé, Thevenon, Julien, Vu-Hong, Thuy-Ai, Harbison, Madeleine D, Salem, Jennifer, Brioude, Frédéric, Netchine, Irène, Giabicani, Eloïse
Published in The journal of clinical endocrinology and metabolism (01.07.2018)
Published in The journal of clinical endocrinology and metabolism (01.07.2018)
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Journal Article
Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence
Vlachopapadopoulou, Elpis-Athina, Anagnostou, Elli, Dikaiakou, Eirini, Hanna, Patrick, Tsolia, Maria, Michalacos, Stefanos, Linglart, Agnès, Karavanaki, Kyriaki
Published in Journal of Pediatric Endocrinology & Metabolism (01.11.2020)
Published in Journal of Pediatric Endocrinology & Metabolism (01.11.2020)
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Journal Article
XLH Matters 2024: expert insights and practical tools for enhancing care of people living with X-linked hypophosphataemia
Seefried, Lothar, Alzahrani, Ali S., Wagner, Carsten A., Eade, Damian, Fintini, Danilo, Haffner, Dieter, Frookh Jamal, Hasan, Bubbear, Judith S., Guazzarotti, Laura, Cheung, Moira S., Abid, Noina, Costa-Reis, Patrícia, Ferreira Santos, Rui, Beck-Nielsen, Signe Sparre, Linglart, Agnès
Published in Orphanet journal of rare diseases (18.09.2025)
Published in Orphanet journal of rare diseases (18.09.2025)
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Journal Article
Genetic Analysis and Evaluation of Resistance to Thyrotropin and Growth Hormone-Releasing Hormone in Pseudohypoparathyroidism Type Ib
Mantovani, Giovanna, Bondioni, Sara, Linglart, Agnès, Maghnie, Mohamad, Cisternino, Mariangela, Corbetta, Sabrina, Lania, Andrea G., Beck-Peccoz, Paolo, Spada, Anna
Published in The journal of clinical endocrinology and metabolism (01.09.2007)
Published in The journal of clinical endocrinology and metabolism (01.09.2007)
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Journal Article
Near Normalization of Adult Height and Body Proportions by Growth Hormone in Pycnodysostosis
Rothenbühler, Anya, Piquard, Catherine, Gueorguieva, Iva, Lahlou, Najiba, Linglart, Agnès, Bougnères, Pierre
Published in The journal of clinical endocrinology and metabolism (01.06.2010)
Published in The journal of clinical endocrinology and metabolism (01.06.2010)
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Journal Article
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing
Taillandier, Agnès, Domingues, Christelle, De Cazanove, Clémence, Porquet-Bordes, Valérie, Monnot, Sophie, Kiffer-Moreira, Tina, Rothenbuhler, Agnès, Guggenbuhl, Pascal, Cormier, Catherine, Baujat, Geneviève, Debiais, Françoise, Capri, Yline, Cohen-Solal, Martine, Parent, Philippe, Chiesa, Jean, Dieux, Anne, Petit, Florence, Roume, Joelle, Isnard, Monica, Cormier-Daire, Valérie, Linglart, Agnès, Millán, José Luis, Salles, Jean-Pierre, Muti, Christine, Simon-Bouy, Brigitte, Mornet, Etienne
Published in Molecular genetics and metabolism (01.11.2015)
Published in Molecular genetics and metabolism (01.11.2015)
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Journal Article
A Novel STX16 Deletion in Autosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries of a cis-Acting Imprinting Control Element of GNAS
Linglart, Agnès, Gensure, Robert C., Olney, Robert C., Jüppner, Harald, Bastepe, Murat
Published in American journal of human genetics (01.05.2005)
Published in American journal of human genetics (01.05.2005)
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Journal Article
Coding GNAS Mutations Leading to Hormone Resistance Impair in Vitro Agonist- and Cholera Toxin-Induced Adenosine Cyclic 3′,5′-Monophosphate Formation Mediated by Human XLαs
Linglart, Agnès, Mahon, Matthew J., Kerachian, Mohammad A., Berlach, David M., Hendy, Geoffrey N., Jüppner, Harald, Bastepe, Murat
Published in Endocrinology (Philadelphia) (01.05.2006)
Published in Endocrinology (Philadelphia) (01.05.2006)
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Journal Article
P494: An analysis of ALPL gene variants in patients with hypophosphatasia from the Global Hypophosphatasia Registry
Kishnani, Priya, Dahir, Kathryn, Martos-Moreno, Gabriel, Linglart, Agnès, Petryk, Anna, Mowrey, William, Fang, Shona, Rockman-Greenberg, Cheryl, Ozono, Keiichi, Högler, Wolfgang, Seefried, Lothar
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
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, Garabédian, Michèle, Lé, Tran, Mallet, Eric, Kottler, Marie Laure
Published in The journal of clinical endocrinology and metabolism (01.01.2002)
Published in The journal of clinical endocrinology and metabolism (01.01.2002)
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Journal Article