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List of works by Agnès Linglart

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Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

scientific article
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

article by Murat Bastepe et al published January 2005 in Nature Genetics
A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS

scientific article
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

scientific article
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance

scientific article (publication date: 9 June 2011)
Diagnosis and management of Silver-Russell syndrome: first international consensus statement

scientific article
Tooth dentin defects reflect genetic disorders affecting bone mineralization

scientific article published on 26 January 2012
Burosumab Therapy in Children with X-Linked Hypophosphatemia

scientific article published on 01 May 2018
Therapeutic management of hypophosphatemic rickets from infancy to adulthood.

scientific article published on 14 March 2014
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

scientific article
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance

scientific article published on 5 October 2012
A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.

scientific article published on 8 January 2008
Mechanisms of ligand binding to the parathyroid hormone (PTH)/PTH-related protein receptor: selectivity of a modified PTH(1-15) radioligand for GalphaS-coupled receptor conformations

scientific article published on 8 December 2005
GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance

article
MEPE-derived ASARM peptide inhibits odontogenic differentiation of dental pulp stem cells and impairs mineralization in tooth models of X-linked hypophosphatemia

scientific article
Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus

scientific article published on 25 July 2007
Hypophosphatasia.

scientific article published on 15 April 2016
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

scientific article published on 23 October 2010
Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.

scientific article published on 28 May 2013
Trabecular Bone Score: Where are we now?

scientific article published on 24 April 2015
Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood

scientific article
Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XLalphas.

scientific article
Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.

scientific article published on 25 July 2017
Primary hyperparathyroidism in pregnancy

scientific article published on 14 May 2013
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

scientific article
GNAS -Related Loss-of-Function Disorders and the Role of Imprinting.

scientific article published on 29 March 2013
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

scientific article published on 29 September 2015
The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.

scientific article published on 18 July 2016
Macroprolactinomas in children and adolescents: factors associated with the response to treatment in 77 patients

scientific article published on 22 December 2014
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

scientific article
Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation.

scientific article published on 20 October 2015
Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences

scientific article published on 10 March 2016
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

article by Giovanna Mantovani et al published August 2018 in Nature Reviews Endocrinology
Genetic Analysis and Evaluation of Resistance to Thyrotropin and Growth Hormone-Releasing Hormone in Pseudohypoparathyroidism Type Ib

article by Giovanna Mantovani et al published September 2007 in The Journal of Clinical Endocrinology and Metabolism
Recent Advances in Imprinting Disorders.

scientific article published on July 2016
Potent constitutive cyclic AMP-generating activity of XLαs implicates this imprinted GNAS product in the pathogenesis of McCune-Albright syndrome and fibrous dysplasia of bone.

scientific article
Infantile hypercalcemia and hypercalciuria: new insights into a vitamin D-dependent mechanism and response to ketoconazole treatment.

scientific article published on 14 April 2010
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

scientific article
Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms.

scientific article published on March 2016
De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases

scientific article
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.

scientific article published on 6 December 2015
Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth

scientific article published on 18 August 2010
Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.

scientific article published on 26 January 2016
Phosphate and Vitamin D Prevent Periodontitis in X-Linked Hypophosphatemia

scientific article published on 13 November 2016
Acrodysostosis syndromes

scientific article
Very low frequency of germline GPR101 genetic variation and no biallelic defects with AIP in a large cohort of patients with sporadic pituitary adenomas.

scientific article published on 20 January 2016
Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?

scientific article published on 10 May 2016
Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

scientific article
Multilocus methylation defects in imprinting disorders.

scientific article published on March 2015
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

scientific article published on 01 July 2019

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