Výsledky vyhledávání - Caroline Silve
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Ollier disease Autor Caroline Silve, Harald Jüppner
Vydáno 2006Revisão -
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Dominant-Negative<i>GCMB</i>Mutations Cause an Autosomal Dominant Form of Hypoparathyroidism Autor Michael Mannstadt, Guylène Bertrand, Mihaela Mureşan, G. Weryha, Bruno Leheup, Sirish R. Pulusani, Bernard Grandchamp, Harald Jüppner, Caroline Silve
Vydáno 2008Artigo -
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Absence of Functional Type 1 Parathyroid Hormone (PTH)/PTH-Related Protein Receptors in Humans Is Associated with Abnormal Breast Development and Tooth Impaction1 Autor John J. Wysolmerski, Sarah Cormier, William M. Philbrick, Pamela Dann, Jianping Zhang, J. Roume, Anne‐Lise Delezoide, Caroline Silve
Vydáno 2001Artigo -
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Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D. Autor S Balsan, M Garabédian, M Larchet, Arachk Marie De Gorski, Giulia Cournot, Cristina Tau, A. Bourdeau, Caroline Silve, Céline Ricour
Vydáno 1986Artigo -
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A Novel Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Mutation in Jansen’s Metaphyseal Chondrodysplasia<sup>1</sup> Autor Ernestina Schipani, Craig B. Langman, Joy L. Hunzelman, M. Le Merrer, Kah Yin Loke, Michael J. Dillon, Caroline Silve, Harald Jüppner
Vydáno 1999Artigo -
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Nephrolithiasis and Osteoporosis Associated with Hypophosphatemia Caused by Mutations in the Type 2a Sodium–Phosphate Cotransporter Autor Dominique Prié, Virginie Huart, Naziha Bakouh, Gabrielle Planelles, Olivier Dellis, Bénédicte Gérard, Philippe Hulin, François Benqué-Blanchet, Caroline Silve, Bernard Grandchamp, Gérard Friedlander
Vydáno 2002Artigo -
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<i>NHERF1</i>Mutations and Responsiveness of Renal Parathyroid Hormone Autor Zoubida Karim, Bénédicte Gérard, Naziha Bakouh, Rohia Alili, Christine Leroy, Laurent Beck, Caroline Silve, Gabrielle Planelles, Pablo Ureña‐Torres, Bernard Grandchamp, Gérard Friedlander, Dominique Prié
Vydáno 2008Artigo -
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Recurrent<i>PRKAR1A</i>Mutation in Acrodysostosis with Hormone Resistance Autor Agnès Linglart, Christine Dos Santos, Alain Couvineau, Colette Auzan, Yasemin Güneş, Mathilde Cancel, Emmanuelle Motte‐Signoret, Graziella Pinto, Philippe Chanson, Pierre Bougnères, Éric Clauser, Caroline Silve
Vydáno 2011Artigo -
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The renal PTH/PTHrP receptor is down-regulated in rats with chronic renal failure Autor Pablo Ureña, Marcos Kubrusly, Michael Mannstadt, M Hrubý, Marie-Marcelle Trinh Trang Tan, Caroline Silve, Bernard Lacour, Abdul‐Badi Abou‐Samra, Gino V. Segre, Tilman B. Drüeke
Vydáno 1994Artigo -
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Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients with<i>GNAS</i>Epimutations Underlies a Complex and Different Mechanism of Multilocus Methylation... Autor Stéphanie Maupetit‐Mehouas, Salah Azzi, Virginie Steunou, Nathalie Sakakini, Caroline Silve, Christelle Reynès, Guiomar Pérez de Nanclares, Boris Keren, Sandra Chantot‐Bastaraud, Anne Barlier, Agnès Linglart, Irène Netchine
Vydáno 2013Artigo -
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Pro-FHH: A Risk Equation to Facilitate the Diagnosis of Parathyroid-Related Hypercalcemia Autor Jean‐Philippe Bertocchio, Muriel Tafflet, Eugénie Koumakis, Gérard Maruani, Rosa Vargas‐Poussou, Caroline Silve, Peter H. Nissen, Stéphanie Baron, Caroline Prot‐Bertoye, Marie Courbebaisse, Jean–Claude Souberbielle, Lars Rejnmark, Catherine Cormier, Pascal Houillier
Vydáno 2018Artigo
Vyhledávací nástroje:
Související témata
Medicine
Internal medicine
Calcium
Parathyroid hormone
Biology
Endocrinology
Gene
Genetics
Chemistry
Receptor
Pseudohypoparathyroidism
Biochemistry
Mutation
Cell biology
GNAS complex locus
Kidney
Anatomy
DNA methylation
Gene expression
Hyperparathyroidism
Locus (genetics)
Mutant
Parathyroid hormone-related protein
Pathology
Phenotype
Point mutation
Primary hyperparathyroidism
Vitamin D and neurology
Alkaline phosphatase
Astrobiology