Marie-laure L. Kottler

Caen, France

Last Updated: 09/26/2026

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Found 30 publications

Defective GNAS imprinting due to splice site variants in pseudohypoparathyroidism type 1B.

Defective GNAS imprinting due to splice site variants in pseudohypoparathyroidism type 1B.

Journal: JCI insight
Published: September 02, 2025

Pseudohypoparathyroidism and variants: A translational medicine success story

Pseudohypoparathyroidism and variants: A translational medicine success story

Journal: Medecine sciences : M/S
Published: September 12, 2022

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

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

Journal: Frontiers in endocrinology
Published: July 04, 2021

Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.

Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: May 28, 2019

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

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

Journal: Bone
Published: December 19, 2018

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.

Journal: Nature reviews. Endocrinology
Published: July 01, 2018

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

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

Journal: European journal of medical genetics
Published: April 09, 2018

Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity.

Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: January 02, 2018

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

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

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: February 01, 2017

Pseudohypoparathyroidism type 1B associated with assisted reproductive technology.

Pseudohypoparathyroidism type 1B associated with assisted reproductive technology.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: January 20, 2017

Hypercalcemia and inactive mutation of CYP24A1. Case-study and literature review

Hypercalcemia and inactive mutation of CYP24A1. Case-study and literature review

Journal: Nephrologie & therapeutique
Published: October 24, 2016

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: October 05, 2016
Showing 1-12 of 30

Last Updated: 09/26/2026