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Diagnosis and management of pituitary adenomas in children and adolescents.
Published in:
European Journal of Endocrinology, 2024, v. 191, n. 4, p. R55, doi. 10.1093/ejendo/lvae120
By:
- Maiter, Dominique;
- Chanson, Philippe;
- Constantinescu, Stefan Matei;
- Linglart, Agnès
Publication type:
Article
Abstract 102: Once-weekly somapacitan versus daily growth hormone in children born small for gestational age: 1-year results from a randomised phase 2 trial.
Published in:
Indian Journal of Endocrinology & Metabolism, 2022, v. 26, p. 44, doi. 10.4103/2230-8210.363604
By:
- Nagarajan, Vetrivel;
- Juul, Anders;
- Backeljauw, Philippe;
- Kawai, Masanobu;
- Linglart, Agnès;
- Zuckerman-Levin, Nehama;
- Horikawa, Reiko;
- Presenting on behalf of the REAL 5 authors
Publication type:
Article
Hypophosphatasia.
Published in:
Current Osteoporosis Reports, 2016, v. 14, n. 3, p. 95, doi. 10.1007/s11914-016-0309-0
By:
- Linglart, Agnès;
- Biosse-Duplan, Martin
Publication type:
Article
Development of Spinal Enthesopathies in Adults With X-linked Hypophosphatemia.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 12, p. e1524, doi. 10.1210/clinem/dgad383
By:
- Herrou, Julia;
- Fechtenbaum, Jacques;
- Rothenbuhler, Anya;
- Kamenický, Peter;
- Roux, Christian;
- Linglart, Agnès;
- Briot, Karine
Publication type:
Article
Neonatal and Early Infancy Features of Patients With Inactivating PTH/PTHrP Signaling Disorders/Pseudohypoparathyroidism.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 11, p. 2961, doi. 10.1210/clinem/dgad236
By:
- Del Sindaco, Giulia;
- Berkenou, Jugurtha;
- Pagnano, Angela;
- Rothenbuhler, Anya;
- Arosio, Maura;
- Mantovani, Giovanna;
- Linglart, Agnès
Publication type:
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".
Published in:
2023
By:
- 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
Publication type:
Letter to the Editor
Early Growth Hormone Initiation Leads to Favorable Long-Term Growth Outcomes in Children Born Small for Gestational Age.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 5, p. 1043, doi. 10.1210/clinem/dgac694
By:
- Juul, Anders;
- Backeljauw, Philippe;
- Cappa, Marco;
- Pietropoli, Alberto;
- Kelepouris, Nicky;
- Linglart, Agnès;
- Pfäffle, Roland;
- Geffner, Mitchell
Publication type:
Article
Genotype-phenotype Description of Vitamin D--dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 4, p. 812, doi. 10.1210/clinem/dgac639
By:
- Méaux, Marie-Noëlle;
- Harambat, Jérôme;
- Rothenbuhler, Anya;
- Léger, Juliane;
- Kamenicky, Peter;
- Soskin, Sylvie;
- Boyer, Olivia;
- Boros, Emese;
- D'Anella, Pascal;
- Mignot, Brigitte;
- Gebhart, Maite;
- Vic, Philippe;
- Richard, Nicolas;
- Thivichon-Prince, Béatrice;
- Francou, Bruno;
- Linglart, Agnès;
- Bacchetta, Justine;
- Molin, Arnaud
Publication type:
Article
Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 12, p. 3287, doi. 10.1210/clinem/dgac517
By:
- 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.;
- Reiko Horikawa;
- Toshiaki Tanaka;
- Dörr, Helmuth-Günther;
- Albertsson-Wikland, Kerstin;
- Polak, Michel
Publication type:
Article
X-Linked Hypophosphatemia, Not Only a Skeletal Disease But Also a Chronic Inflammatory State.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 12, p. 3275, doi. 10.1210/clinem/dgac543
By:
- Méaux, Marie-Noëlle;
- Alioli, Candide;
- Linglart, Agnès;
- Lemoine, Sandrine;
- Vignot, Emmanuelle;
- Bertholet-Thomas, Aurélia;
- Peyruchaud, Olivier;
- Flammier, Sacha;
- Machuca-Gayet, Irma;
- Bacchetta, Justine
Publication type:
Article
Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 3, p. 813, doi. 10.1210/clinem/dgab729
By:
- Linglart, Agnès;
- Imel, Erik A.;
- Whyte, Michael P.;
- Portale, Anthony A.;
- Högler, Wolfgang;
- Boot, Annemieke M.;
- Padidela, Raja;
- van't Hoff, William;
- Gottesman, Gary S.;
- Chen, Angel;
- Skrinar, Alison;
- Roberts, Mary Scott;
- Carpenter, Thomas O.
Publication type:
Article
Prevalence of Enthesopathies in Adults With X-linked Hypophosphatemia: Analysis of Risk Factors.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 1, p. e2244, doi. 10.1210/clinem/dgab580
By:
- Herrou, Julia;
- Picaud, Axelle Salcion;
- Lassalle, Louis;
- Pacot, Laurence;
- Chaussain, Catherine;
- Merzoug, Valérie;
- Hervé, Agathe;
- Gadion, Margaux;
- Rothenbuhler, Anya;
- Kamenický, Peter;
- Roux, Christian;
- Linglart, Agnès;
- Duplan, Martin Biosse;
- Briot, Karine
Publication type:
Article
A Novel Familial PHP1B Variant With Incomplete Loss of Methylation at GNAS-A/B and Enhanced Methylation at GNAS-AS2.
Published in:
2021
By:
- Hanna, Patrick;
- Francou, Bruno;
- Delemer, Brigitte;
- Jüppner, Harald;
- Linglart, Agnès
Publication type:
journal article
Orthodontic treatment in children and adolescent patients with X‐linked hypophosphatemia: A case–control study.
Published in:
Orthodontics & Craniofacial Research, 2024, v. 27, n. 5, p. 697, doi. 10.1111/ocr.12787
By:
- Janssens, Yann;
- Duplan, Martin Biosse;
- Linglart, Agnès;
- Rothenbuhler, Anya;
- Chaussain, Catherine;
- Le Norcy, Elvire
Publication type:
Article
Young XLH Patients-Reported Experience with a Supportive Care Program.
Published in:
Patient Preference & Adherence, 2023, v. 17, p. 1393, doi. 10.2147/PPA.S391025
By:
- Rothenbuhler, Anya;
- Gueorguieva, Iva;
- Lichtenberger-Geslin, Lydia;
- Audrain, Christelle;
- Soskin, Sylvie;
- Bensignor, Candace;
- Rossignol, Sylvie;
- Bertholet-Thomas, Aurélia;
- Naudeau, Lorelei;
- Bacchetta, Justine;
- Linglart, Agnès
Publication type:
Article
A patient-centred and multi-stakeholder co-designed observational prospective study protocol: Example of the adolescent experience of treatment for X-linked hypophosphataemia (XLH).
Published in:
PLoS ONE, 2024, v. 19, n. 1, p. 1, doi. 10.1371/journal.pone.0295080
By:
- Saraff, Vrinda;
- Boot, Annemieke M.;
- Linglart, Agnès;
- Semler, Oliver;
- Harvengt, Pol;
- Williams, Angela;
- Bailey, Karen M. A.;
- Glen, Fiona;
- Davies, Elin Haf;
- Wood, Sue;
- Greentree, Stephen;
- Rylands, Angela J.
Publication type:
Article
New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63781
By:
- Kishnani, Priya S.;
- Seefried, Lothar;
- Dahir, Kathryn M.;
- Martos‐Moreno, Gabriel Ángel;
- Linglart, Agnès;
- Petryk, Anna;
- Mowrey, William R.;
- Fang, Shona;
- Ozono, Keiichi;
- Högler, Wolfgang;
- Rockman‐Greenberg, Cheryl
Publication type:
Article
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 734, doi. 10.1002/ajmg.a.37490
By:
- Thomas‐Teinturier, Cecile;
- Pereda, Arrate;
- Garin, Intza;
- Diez‐Lopez, Ignacio;
- Linglart, Agnès;
- Silve, Caroline;
- de Nanclares, Guiomar Pérez
Publication type:
Article
Rendu des résultats de dosage de l'hormone de croissance en μg/L : la fin de la résistance des irréductibles Gaulois.
Published in:
Annales de Biologie Clinique, 2018, v. 76, n. 2, p. 133, doi. 10.1684/abc.2018.1322
By:
- Chanson, Philippe;
- Reynaud, Rachel;
- Coutant, Régis;
- Linglart, Agnès;
- Nicolino, Marc;
- RodiEN, Patrice;
- Borson-Chazot, Françoise;
- Tabarin, Antoine;
- Le Bouc, Yves;
- Piketty, Marie-Liesse;
- Gauchez, Anne-Sophie;
- ChevENne, Didier;
- Porquet, Dominique;
- Souberbielle, Jean-Claude
Publication type:
Article
Le remboursement du dosage du CTX sérique : une incohérence dans la nomenclature des analyses de biologie médicale.
Published in:
Annales de Biologie Clinique, 2016, v. 74, n. 4, p. 381, doi. 10.1684/abc.2016.1162
By:
- Souberbielle, Jean-Claude;
- Bendavid, Sauveur;
- Blain, Hubert;
- Bousson, Valérie;
- Breuil, Véronique;
- Briot, Karine;
- Chapurlat, Roland;
- Chapuis, Laure;
- Cohen-Solal, Martine;
- Fardellone, Patrice;
- Feron, Jean-Marc;
- Gauvain, Jean-Bernard;
- Laroche, Michel;
- Legrand, Erick;
- Lespessailles, Eric;
- Linglart, Agnès;
- Marcelli, Christian;
- Roux, Christian;
- Sutter, Bruno;
- Thomas, Thierry
Publication type:
Article
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.
Published in:
Nature Genetics, 2005, v. 37, n. 1, p. 25, doi. 10.1038/ng1487
By:
- Bastepe, Murat;
- Fröhlich, Leopold F.;
- Linglart, Agnès;
- Abu-Zahra, Hilal S.;
- Tojo, Katsuyoshi;
- Ward, Leanne M.;
- Jüppner, Harald
Publication type:
Article
Progressive Development of PTH Resistance in Patients With Inactivating Mutations on the Maternal Allele of GNAS.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2017, p. 1844, doi. 10.1210/jc.2016-3544
By:
- Usardi, Alessia;
- Mamoune, Asmaa;
- Nattes, Elodie;
- Carel, Jean-Claude;
- Rothenbuhler, Anya;
- Linglart, Agnès
Publication type:
Article
Progressive Development of PTH Resistance in Patients With Inactivating Mutations on the Maternal Allele of GNAS.
Published in:
2017
By:
- Usardi, Alessia;
- Mamoune, Asmaa;
- Nattes, Elodie;
- Carel, Jean-Claude;
- Rothenbuhler, Anya;
- Linglart, Agnès
Publication type:
journal article
The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.
Published in:
2016
By:
- Elli, Francesca Marta;
- Linglart, Agnès;
- Garin, Intza;
- de Sanctis, Luisa;
- Bordogna, Paolo;
- Grybek, Virginie;
- Pereda, Arrate;
- Giachero, Federica;
- Verrua, Elisa;
- Hanna, Patrick;
- Mantovani, Giovanna;
- Perez de Nanclares, Guiomar
Publication type:
journal article
Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?
Published in:
2016
By:
- Jost, Jérémy;
- Bahans, Claire;
- Courbebaisse, Marie;
- Tran, Tu-Anh;
- Linglart, Agnès;
- Benistan, Karelle;
- Lienhardt, Anne;
- Mutar, Hadile;
- Pfender, Elodie;
- Ratsimbazafy, Voa;
- Guigonis, Vincent
Publication type:
journal article
Genetic and Epigenetic Modulation of Growth Hormone Sensitivity Studied With the IGF-1 Generation Test.
Published in:
2015
By:
- Ouni, Meriem;
- Castell, Anne-Laure;
- Linglart, Agnès;
- Bougnères, Pierre
Publication type:
Journal Article
Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth.
Published in:
2015
By:
- Bréhin, Anne-Claire;
- Colson, Cindy;
- Maupetit-Méhouas, Stéphanie;
- Grybek, Virginie;
- Richard, Nicolas;
- Linglart, Agnès;
- Kottler, Marie-Laure;
- Jüppner, Harald
Publication type:
journal article
Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms.
Published in:
2015
By:
- Garin, Intza;
- Elli, Francesca M;
- Linglart, Agnes;
- Silve, Caroline;
- de Sanctis, Luisa;
- Bordogna, Paolo;
- Pereda, Arrate;
- Clarke, Joe T R;
- Kannengiesser, Caroline;
- Coutant, Regis;
- Tenebaum-Rakover, Yardena;
- Admoni, Osnat;
- de Nanclares, Guiomar Perez;
- Mantovani, Giovanna
Publication type:
journal article
Macroprolactinomas in children and adolescents: factors associated with the response to treatment in 77 patients.
Published in:
2015
By:
- Salenave, Sylvie;
- Ancelle, Deborah;
- Bahougne, Thibaut;
- Raverot, Gérald;
- Kamenicky, Peter;
- Bouligand, Jérôme;
- Guiochon-Mantel, Anne;
- Linglart, Agnès;
- Souchon, Pierre-François;
- Nicolino, Marc;
- Young, Jacques;
- Borson-Chazot, Françoise;
- Delemer, Brigitte;
- Chanson, Philippe
Publication type:
Journal Article
High frequency of x chromosome abnormalities in women with short stature and elevated liver enzymes.
Published in:
2014
By:
- Roulot, Dominique;
- Malan, Valérie;
- Ziol, Marianne;
- Linglart, Agnès;
- Bourcier, Valérie;
- Beaugrand, Michel;
- Benzacken, Brigitte
Publication type:
Journal Article
Analysis of AP2S1, a Calcium-Sensing Receptor Regulator, in Familial and Sporadic Isolated Hypoparathyroidism.
Published in:
2014
By:
- Lambert, Anne-Sophie;
- Grybek, Virginie;
- Francou, Bruno;
- Esterle, Laure;
- Bertrand, Guylène;
- Bouligand, Jérôme;
- Guiochon-Mantel, Anne;
- Hieronimus, Sylvie;
- Voitel, Dorit;
- Soskin, Sylvie;
- Magdelaine, Corinne;
- Lienhardt, Anne;
- Silve, Caroline;
- Linglart, Agnès
Publication type:
Journal Article
De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases.
Published in:
2012
By:
- Turan S;
- Ignatius J;
- Moilanen JS;
- Kuismin O;
- Stewart H;
- Mann NP;
- Linglart A;
- Bastepe M;
- Jüppner H;
- Turan, Serap;
- Ignatius, Jaakko;
- Moilanen, Jukka S;
- Kuismin, Outi;
- Stewart, Helen;
- Mann, Nicholas P;
- Linglart, Agnès;
- Bastepe, Murat;
- Jüppner, Harald
Publication type:
journal article
Long-Term Results of Continuous Subcutaneous Recombinant PTH (1-34) Infusion in Children with Refractory Hypoparathyroidism.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 11, p. 3308, doi. 10.1210/jc.2011-1359
By:
- Linglart, Agnès;
- Rothenbuhler, Anya;
- Gueorgieva, Iva;
- Lucchini, Philippe;
- Silve, Caroline;
- Bougnères, Pierre
Publication type:
Article
Clinical Profiles of Children with Hypophosphatasia prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry.
Published in:
Hormone Research in Paediatrics, 2024, v. 97, n. 3, p. 233, doi. 10.1159/000531865
By:
- Martos-Moreno, Gabriel Ángel;
- Rockman-Greenberg, Cheryl;
- Ozono, Keiichi;
- Petryk, Anna;
- Kishnani, Priya S.;
- Dahir, Kathryn M.;
- Seefried, Lothar;
- Fang, Shona;
- Högler, Wolfgang;
- Linglart, Agnès
Publication type:
Article
MEPE-Derived ASARM Peptide Inhibits Odontogenic Differentiation of Dental Pulp Stem Cells and Impairs Mineralization in Tooth Models of X-Linked Hypophosphatemia.
Published in:
PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056749
By:
- Salmon, Benjamin;
- Bardet, Claire;
- Khaddam, Mayssam;
- Naji, Jiar;
- Coyac, Benjamin R.;
- Baroukh, Brigitte;
- Letourneur, Franck;
- Lesieur, Julie;
- Decup, Franck;
- Le Denmat, Dominique;
- Nicoletti, Antonino;
- Poliard, Anne;
- Rowe, Peter S.;
- Huet, Eric;
- Vital, Sibylle Opsahl;
- Linglart, Agnès;
- McKee, Marc D.;
- Chaussain, Catherine
Publication type:
Article
Recombinant Human GH Replacement Therapy in Children with Pseudohypoparathyroidism Type Ia: First Study on the Effect on Growth.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 11, p. 5011, doi. 10.1210/jc.2010-1649
By:
- Mantovani, Giovanna;
- Ferrante, Emanuele;
- Giavoli, Claudia;
- Linglart, Agnes;
- Cappa, Marco;
- Cisternino, Mariangela;
- Maghnie, Mohamad;
- Ghizzoni, Lucia;
- Sanctis, Luisa de;
- Lania, Andrea G.;
- Beck-Peccoz, Paolo;
- Spada, Anna
Publication type:
Article
Risk of Corrected QT Interval Prolongation after Pamidronate Infusion in Children.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 8, p. 3768, doi. 10.1210/jc.2009-2814
By:
- Rothenbuhler, Anya;
- Marchand, Isis;
- Bougnères, Pierre;
- Linglart, Agnès
Publication type:
Article
Near Normalization of Adult Height and Body Proportions by Growth Hormone in Pycnodysostosis.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 6, p. 2827, doi. 10.1210/jc.2009-2531
By:
- Rothenbühler, Anya;
- Piquard, Catherine;
- Gueorguieva, Iva;
- Lahlou, Najiba;
- Linglart, Agnès;
- Bougnères, Pierre
Publication type:
Article
Endocrine Manifestations of the Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neural Tumor Syndrome in Childhood.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 10, p. 3971, doi. 10.1210/jc.2008-0238
By:
- Bougnères, Pierre;
- Pantalone, Letitia;
- Linglart, Agnès;
- Rothenbühler, Anya;
- Stunff, Catherine Le
Publication type:
Article
Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib.
Published in:
2007
By:
- Mantovani, Giovanna;
- Bondioni, Sara;
- Linglart, Agnès;
- Maghnie, Mohamad;
- Cisternino, Mariangela;
- Corbetta, Sabrina;
- Lania, Andrea G;
- Beck-Peccoz, Paolo;
- Spada, Anna
Publication type:
journal article
GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 1, p. 189, doi. 10.1210/jcem.87.1.8133
By:
- LINGLART, AGNÈS;
- CAREL, JEAN CLAUDE;
- GARABÉDIAN, MICHÈLE;
- LÉ, TRAN;
- MALLET, ERIC;
- KOTTLER, MARIE LAURE
Publication type:
Article
Autosomal-Dominant Pseudohypoparathyroidism Type Ib is Caused by Different Microdeletions Within or Upstream of the GNAS Locus.
Published in:
Annals of the New York Academy of Sciences, 2006, v. 1068, n. 1, p. 250, doi. 10.1196/annals.1346.029
By:
- JÜPPNER, HARALD;
- LINGLART, AGNÈS;
- FRÖHLICH, LEOPOLD F.;
- BASTEPE, MURAT
Publication type:
Article
Prospective Analysis of Muscle Adiposity in Children With X-linked Hypophosphatemic Rickets vs Control Children.
Published in:
Journal of the Endocrine Society, 2022, v. 6, n. 12, p. 1, doi. 10.1210/jendso/bvac135
By:
- Nguyen-Khac, Virginie;
- Bonnet-Lebrun, Aurore;
- Linglart, Agnès;
- Tienda, Marine de;
- Berkenou, Jugurtha;
- Mannes, Inès;
- Adamsbaum, Catherine;
- Wicart, Philippe;
- Skalli, Wafa
Publication type:
Article
The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey.
Published in:
Journal of the Endocrine Society, 2019, v. 3, n. 7, p. 1321, doi. 10.1210/js.2018-00365
By:
- Skrinar, Alison;
- Dvorak-Ewell, Melita;
- Evins, Ayla;
- Macica, Carolyn;
- Linglart, Agnès;
- Imel, Erik A;
- Theodore-Oklota, Christina;
- Martin, Javier San
Publication type:
Article
X-linked hypophosphatemia, obesity and arterial hypertension: data from the XLH21 study.
Published in:
Pediatric Nephrology, 2023, v. 38, n. 3, p. 697, doi. 10.1007/s00467-022-05636-9
By:
- Bloudeau, Louisa;
- Linglart, Agnès;
- Flammier, Sacha;
- Portefaix, Aurélie;
- Bertholet-Thomas, Aurélia;
- Eddiry, Sanaa;
- Barosi, Anna;
- Salles, Jean-Pierre;
- Porquet-Bordes, Valérie;
- Rothenbuhler, Anya;
- Roger, Christelle;
- Bacchetta, Justine
Publication type:
Article
Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry.
Published in:
Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1138599
By:
- Dahir, Kathryn M.;
- Kishnani, Priya S.;
- Ángel Martos-Moreno, Gabriel;
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European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.
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European Journal of Human Genetics, 2015, v. 23, n. 4, p. 438, doi. 10.1038/ejhg.2014.127
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- Grybek, Virginie;
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- Thiele, Susanne;
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Clinical utility gene card for: Pseudohypoparathyroidism.
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European Journal of Human Genetics, 2013, v. 21, n. 6, p. 1, doi. 10.1038/ejhg.2012.211
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- Garin, Intza;
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- de Nanclares, Guiomar Perez
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Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence.
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Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 11, p. 1475, doi. 10.1515/jpem-2020-0192
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- Hanna, Patrick;
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- Michalacos, Stefanos;
- Linglart, Agnès;
- Karavanaki, Kyriaki
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Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03048-6
By:
- Kishnani, Priya S.;
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- Linglart, Agnès;
- Petryk, Anna;
- Messali, Andrew;
- Fang, Shona;
- Rockman-Greenberg, Cheryl;
- Ozono, Keiichi;
- Högler, Wolfgang;
- Seefried, Lothar;
- Dahir, Kathryn M.
Publication type:
Article

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