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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 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.
Journal articles
hal-03510866v2
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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: EUCID.net -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.
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.
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.
Journal articles
hal-03193197v1
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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.
Journal articles
inserm-03413999v1
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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.
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.
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
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
Journal articles
inserm-01477977v1
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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 articles
hal-02423832v1
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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 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.
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.
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.
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.
Journal articles
hal-03225618v1
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