Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
Haffner, Dieter, Emma, Francesco, 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
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
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, MD, Linglart, Agnès, MD, PhD, Bienaime, Frank, MD, PhD, Allain-Launay, Emma, MD, Roussey-Kessler, Gwenaelle, MD, Ryckewaert, Amélie, MD, Kottler, Marie-Laure, MD, PhD, Hourmant, Maryvonne, MD, PhD
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
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
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 (26.11.2020)
Published in Journal of Pediatric Endocrinology & Metabolism (26.11.2020)
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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, Pinheiro Canton, Ana, 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
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
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
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
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
Burosumab Therapy in Children with X-Linked Hypophosphatemia
Carpenter, Thomas O, Whyte, Michael P, Imel, Erik A, Boot, Annemieke M, Högler, Wolfgang, Linglart, Agnès, Padidela, Raja, van’t Hoff, William, Mao, Meng, Chen, Chao-Yin, Skrinar, Alison, Kakkis, Emil, San Martin, Javier, Portale, Anthony A
Published in The New England journal of medicine (24.05.2018)
Published in The New England journal of medicine (24.05.2018)
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Journal Article
The European Registry for Rare Bone and Mineral Conditions (EuRR-Bone): First year experience of the use of an e-reporting tool
Zurita, Ana Luisa Priego, Linglart, Agnès, Alves, Inês, Auriemma, Renata Simona, Boarini, Manila, Bryce, Jillian, DeSanctis, Luisa, Ertl, Diana-Alexandra, Gan, Hoong-Wei, Grasemann, Corinna, Högler, Wolfgang, Javaid, M. Kassim, Mohnike, Klaus, Mordenti, Marina, Raimann, Adalbert, Sangiorgi, Luca, Roos, Marco, Skarberg, Rebecca, Soucek, Ondrej, Toke, Judit, van den Akker, Erica, Vicente, Almudena, Faisal, Ahmed S., Appelman-Dijkstra, Natasha
Published in Bone Reports (01.04.2021)
Published in Bone Reports (01.04.2021)
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Journal Article
Reference values for serum calcium in neonates should be established in a population of vitamin D-replete subjects
Levaillant, Lucie, Linglart, Agnès, Gajdos, Vincent, Benachi, Alexandra, Souberbielle, Jean-Claude
Published in The journal of clinical endocrinology and metabolism (13.03.2024)
Published in The journal of clinical endocrinology and metabolism (13.03.2024)
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Journal Article
Cytosolic sequestration of the vitamin D receptor as a therapeutic option for vitamin D-induced hypercalcemia
Rovito, Daniela, Belorusova, Anna Y., Chalhoub, Sandra, Rerra, Anna-Isavella, Guiot, Elvire, Molin, Arnaud, Linglart, Agnès, Rochel, Natacha, Laverny, Gilles, Metzger, Daniel
Published in Nature communications (07.12.2020)
Published in Nature communications (07.12.2020)
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