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Hyperparathyroidism in Patients With X‐Linked Hypophosphatemia

Anne‐lise Lecoq , Philippe Chaumet‐riffaud , Anne Blanchard , Margot Dupeux , Anya Rothenbuhler , et al.
Journal of Bone and Mineral Research, 2020, 35 (7), pp.1263-1273. ⟨10.1002/jbmr.3992⟩
Journal articles hal-03677153v1
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Practice patterns for chronic hypoparathyroidism: data from patients and physicians in France

Jean-Philippe Bertocchio , Natalie Grosset , Lionel Groussin , Peter Kamenicky , Fabrice Larceneux , et al.
Endocrine Connections, 2021, ⟨10.1530/EC-21-0350⟩
Journal articles hal-03510866v2

National cohort on imprinting disorders and their metabolic consequences (RaDiCo-IDMet)

Eve Klising-Sireul , Radico Team , Irène Netchine , Agnès Linglart , Laure Jamot
4th ID school of the Imprinting disorder network, Mar 2017, Behoust, France
Conference papers inserm-04059036v1
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Congenital imprinting disorders: -a network to decipher their aetiology and to improve the diagnostic and clinical care

Thomas Eggermann , Irène Netchine , I Karen Temple , Zeynep Tümer , David Monk , et al.
Clinical Epigenetics, 2015, 7 (23), pp.1-10. ⟨10.1186/s13148-015-0050-z⟩
Journal articles hal-01133017v1
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Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing

Agnès Taillandier , Christelle Domingues , Clémence de Cazanove , Valérie Porquet-Bordes , Sophie Monnot , et al.
Molecular Genetics and Metabolism, 2015, 116 (3), pp.215-220. ⟨10.1016/j.ymgme.2015.09.010⟩
Journal articles hal-01214009v1
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Cytosolic sequestration of the vitamin D receptor as a therapeutic option for vitamin D-induced hypercalcemia

Daniela Rovito , Anna y Belorusova , Sandra Chalhoub , Anna-Isavella Rerra , Elvire Guiot , et al.
Nature Communications, 2020, 11, pp.6249. ⟨10.1038/s41467-020-20069-4⟩
Journal articles hal-03193197v1

AAV liver gene therapy-mediated inhibition of FGF23 signaling as a therapeutic strategy for X-linked hypophosphatemia

Volha Zhukouskaya , Louisa Jauze , Séverine Charles , Christian Leborgne , Stéphane Hilliquin , et al.
Endocrine Abstracts, 2021, ⟨10.1530/endoabs.73.OC6.2⟩
Journal articles inserm-03413999v1

Ostéopathies fragilisantes, maladie rénale chronique, malabsorptions, anomalies biologiques du métabolisme phosphocalcique : les bonnes indications pour un remboursement raisonné du dosage de vitamine D

Jean-Claude Souberbielle , Claude-Laurent Benhamou , Bernard Cortet , Mickael Rousière , Christian Roux , et al.
Annales de Biologie Clinique, 2014, 72 (4), pp.385-389. ⟨10.1684/abc.2014.0972⟩
Journal articles hal-01225515v1
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Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients

Céline Mouly , Rosa Vargas‐poussou , Anne Lienhardt , Caroline Silve , Marguerite Hureaux , et al.
Clinical Endocrinology, 2020, 93 (3), pp.248-260. ⟨10.1111/cen.14211⟩
Journal articles hal-03225585v1
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Management of X-linked hypophosphatemia in adults

Anne-Lise Lecoq , Maria Luisa Brandi , Agnès Linglart , Peter Kamenický
Metabolism, 2020, 103, pp.154049 -. ⟨10.1016/j.metabol.2019.154049⟩
Journal articles hal-03489565v1
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Erratum to: A randomized pilot trial of growth hormone with anastrozole versus growth hormone alone, starting at the very end of puberty in adolescents with idiopathic short stature

Anya Rothenbuhler , Agnès Linglart , Pierre Bougnères
International Journal of Pediatric Endocrinology, 2016, 2017 (1), pp.4. ⟨10.1186/s13633-017-0043-0⟩
Journal articles inserm-01477977v1

Loss of Methylation at GNAS Exon A/B Is Associated With Increased Intrauterine Growth

Anne-Claire Bréhin , Cindy Colson , Stéphanie Maupetit-Méhouas , Virginie Grybek , Nicolas Richard , et al.
Journal of Clinical Endocrinology and Metabolism, 2015, 100 (4), pp.E623-E631. ⟨10.1210/jc.2014-4047⟩
Journal articles hal-02423832v1

Genotype-phenotype description of Vitamin-D Dependent Rickets 1A: CYP27B1 p.(Ala129Thr) variant induces a milder disease

Marie-Noëlle Méaux , Jérôme Harambat , Anya Rothenbuhler , Juliane Léger , Peter Kamenicky , et al.
Journal of Clinical Endocrinology and Metabolism, 2022, 108 (4), pp.812-826. ⟨10.1210/clinem/dgac639⟩
Journal articles hal-03842659v1
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Indications du dosage de la 25-hydroxyvitamine D [Recommendations for the measurement of blood 25-OH vitamin D]

Jean-Claude Souberbielle , Georges Deschênes , Denis Fouque , Lionel Groussin , Pascal Guggenbuhl , et al.
Annales de Biologie Clinique, 2016, 74 (1), pp.7-19. ⟨10.1684/abc.2015.1107⟩
Journal articles hal-01255877v1
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A novel therapeutic strategy for skeletal disorders: Proof of concept of gene therapy for X-linked hypophosphatemia

Volha Zhukouskaya , Louisa Jauze , Séverine Charles , Christian Leborgne , Stéphane Hilliquin , et al.
Science Advances , 2021, 7 (44), pp.eabj5018. ⟨10.1126/sciadv.abj5018⟩
Journal articles inserm-03687057v1
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Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Thomas Eggermann , Guiomar Perez de Nanclares , Eamonn R. Maher , I. Karen Temple , Zeynep Tümer , et al.
Clinical Epigenetics, 2015, 7 (1), pp.123. ⟨10.1186/s13148-015-0143-8⟩
Journal articles hal-01231437v1
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Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort

Nicolas Jullien , Alexandru Saveanu , Julia Vergier , Emeline Marquant , Marie Helene Quentien , et al.
Clinical Endocrinology, 2021, 94 (2), pp.277-289. ⟨10.1111/cen.14355⟩
Journal articles hal-03225618v1