N. Coudray

Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D

J. Bacchetta, S. Lemoine, Glenville Jones, 2021, Frontiers in Endocrinology.

CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait.

J. Bacchetta, G. Deschênes, J. Souberbielle, 2015, The Journal of clinical endocrinology and metabolism.

[Epigenetics and pseudohypoparathyroidism].

M. Kottler, N. Coudray, N. Richard, 2010, Pathologie-biologie.

Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

Glenville Jones, G. Weryha, P. Journeau, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

H. Jüppner, M. Kottler, A. Molin, 2013, The Journal of clinical endocrinology and metabolism.

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib.

J. Andrieux, N. Gruchy, M. Kottler, 2012, The Journal of clinical endocrinology and metabolism.

High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B.

H. Jüppner, Céline Ballandonne, N. Gruchy, 2019, Bone.

Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations

L. Faivre, J. Bacchetta, M. Gérard, 2019, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

Glenville Jones, G. Weryha, P. Journeau, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia.

M. Castanet, M. Kottler, A. Molin, 2019, European journal of medical genetics.