Overlapping Phenotypes Associated With CYP24A1 , SLC34A1 , and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D
Molin, Arnaud, Lemoine, Sandrine, Kaufmann, Martin, Breton, Pierre, Nowoczyn, Marie, Ballandonne, Céline, Coudray, Nadia, Mittre, Hervé, Richard, Nicolas, Ryckwaert, Amélie, Lavillaureix, Alinoe, Jones, Glenville, Bacchetta, Justine, Kottler, Marie-Laure
Published in Frontiers in endocrinology (Lausanne) (13.10.2021)
Published in Frontiers in endocrinology (Lausanne) (13.10.2021)
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Journal Article
Paternal GNAS Mutations Lead to Severe Intrauterine Growth Retardation (IUGR) and Provide Evidence for a Role of XLαs in Fetal Development
Richard, Nicolas, Molin, Arnaud, Coudray, Nadia, Rault-Guillaume, Pauline, Jüppner, Harald, Kottler, Marie-Laure
Published in The journal of clinical endocrinology and metabolism (01.09.2013)
Published in The journal of clinical endocrinology and metabolism (01.09.2013)
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Journal Article
Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?
Molin, Arnaud, Wiedemann, Arnaud, Demers, Nick, Kaufmann, Martin, Do Cao, Jérémy, Mainard, Laurent, Dousset, Brigitte, Journeau, Pierre, Abeguile, Geneviève, Coudray, Nadia, Mittre, Hervé, Richard, Nicolas, Weryha, Georges, Sorlin, Arthur, Jones, Glenville, Kottler, Marie‐Laure, Feillet, Francois
Published in Journal of bone and mineral research (01.09.2017)
Published in Journal of bone and mineral research (01.09.2017)
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Journal Article
A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/B GNAS and Autosomal Dominant Pseudohypoparathyroidism Type Ib
Richard, Nicolas, Abeguilé, Genevieve, Coudray, Nadia, Mittre, Hervé, Gruchy, Nicolas, Andrieux, Joris, Cathebras, Pascal, Kottler, Marie-Laure
Published in The journal of clinical endocrinology and metabolism (01.05.2012)
Published in The journal of clinical endocrinology and metabolism (01.05.2012)
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Journal Article
High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B
Colson, Cindy, Decamp, Matthieu, Gruchy, Nicolas, Coudray, Nadia, Ballandonne, Céline, Bracquemart, Claire, Molin, Arnaud, Mittre, Hervé, Takatani, Rieko, Jüppner, Harald, Kottler, Marie-Laure, Richard, Nicolas
Published in Bone (New York, N.Y.) (01.06.2019)
Published in Bone (New York, N.Y.) (01.06.2019)
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Journal Article
Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations
Snanoudj, Sarah, Molin, Arnaud, Colson, Cindy, Coudray, Nadia, Paulien, Sylvie, Mittre, Hervé, Gérard, Marion, Schaefer, Elise, Goldenberg, Alice, Bacchetta, Justine, Odent, Sylvie, Naudion, Sophie, Demeer, Bénédicte, Faivre, Laurence, Gruchy, Nicolas, Kottler, Marie‐Laure, Richard, Nicolas
Published in Journal of bone and mineral research (01.05.2020)
Published in Journal of bone and mineral research (01.05.2020)
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Journal Article
Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia
Molin, Arnaud, Nowoczyn, Marie, Coudray, Nadia, Ballandone, Céline, Abéguilé, Geneviève, Mittre, Hervé, Richard, Nicolas, Eckart, Philippe, Castanet, Mireille, Kottler, Marie-Laure
Published in European journal of medical genetics (01.11.2019)
Published in European journal of medical genetics (01.11.2019)
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