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List of works by Agnès Linglart

15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia

scientific article published on 13 March 2018

A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.

scientific article published on 8 January 2008

A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS

scientific article

A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia.

scientific article

A randomized pilot trial of growth hormone with anastrozole versus growth hormone alone, starting at the very end of puberty in adolescents with idiopathic short stature

scientific article published on 16 February 2015

Abnormal osteopontin and matrix extracellular phosphoglycoprotein localization, and odontoblast differentiation, in X-linked hypophosphatemic teeth

scientific article

Acrodysostosis syndromes

scientific article

Acrodysostosis.

scientific article published on 19 July 2012

Adolescent spinal pain: The pediatric orthopedist's point of view

scientific article published on 14 September 2015

Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism.

scientific article

Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion

scientific article published on 19 October 2015

Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3

scientific article published on 07 January 2019

Author Correction: Skeletal and extraskeletal disorders of biomineralization

correction of a scholarly article

Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus

scientific article published on 01 April 2006

Bone dysplasia

scientific article published on 8 May 2017

Burden of Illness in Adults with Hypophosphatasia: Data from the Global Hypophosphatasia Patient Registry

scientific article published on 12 July 2020

Burosumab Therapy in Children with X-Linked Hypophosphatemia

scientific article published on 01 May 2018

Chromosome 14q32.2 imprinted region disruption as an alternative molecular diagnosis of Silver-Russell Syndrome.

scientific article published on 11 April 2018

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

scientific article published on 20 October 2015

Clinical Characteristics of Familial Hypocalciuric Hypercalcaemia Type 1: A Multicentre Study of 77 Adult Patients

scientific article published on 29 April 2020

Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort

scientific article published on 24 October 2020

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

scientific article published on 01 July 2019

Clinical utility gene card for: pseudohypoparathyroidism

scientific article published on 12 September 2012

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

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

scientific article

Continuous Subcutaneous Recombinant Parathyroid Hormone (1-34) Infusion in the Management of Childhood Hypoparathyroidism Associated with Malabsorption.

scientific article published on 19 September 2017

Craniosynostosis and hypophosphatasia.

scientific article published in May 2017

Cushing's disease in children and adolescents

scientific article

Cytosolic sequestration of the vitamin D receptor as a therapeutic option for vitamin D-induced hypercalcemia

scientific article published on 07 December 2020

De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases

scientific article

Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures.

scientific article published on 7 September 2017

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

Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series

scientific article published on 29 October 2020

Dental and craniofacial features associated with GNAS loss of function mutations

scientific article published on 07 November 2019

Development of Enthesopathies and Joint Structural Damage in a Murine Model of X-Linked Hypophosphatemia

scientific article published on 22 September 2020

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

scientific article

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

Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH)

scientific article published on 27 March 2019

Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry

scientific article published on 14 February 2019

Endocrine control of serum phosphate: from the discoveries of phosphatonins to novel therapies

scientific article published in October 2016

Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood

scientific article

Erratum to: A randomized pilot trial of growth hormone with anastrozole versus growth hormone alone, starting at the very end of puberty in adolescents with idiopathic short stature

scientific article published on 27 February 2017

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

scientific article published on 7 March 2016

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

scientific article published on 29 April 2016

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

scientific article

FGF23 measurement in burosumab-treated patients: an emerging treatment may induce a new analytical interference

scientific article published on 13 July 2020

Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences

scientific article published on 10 March 2016

French law: what about a reasoned reimbursement of serum vitamin D assays?

scientific article published on 4 November 2016

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

scientific article

From synthesis to replacement of parathyroid hormone.

scientific article

Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex

scientific article

GACI syndrome: a case report with a neonatal beginning

scientific article

GHD Diagnostics in Europe and the US: An Audit of National Guidelines and Practice

scientific article published on 08 November 2019

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

scientific article published on 29 March 2013

GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance

article

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

Genetic and Epigenetic Modulation of Growth Hormone Sensitivity Studied With the IGF-1 Generation Test

scientific article published on 2 April 2015

Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity.

scientific article published on 25 April 2018

Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.

scientific article published on 26 January 2016

Gonadotrophic status in adolescents with pituitary stalk interruption syndrome

scientific article published on 01 July 2008

Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome

scientific article published on 11 March 2011

Growth hormone treatment for childhood short stature and risk of stroke in early adulthood

scientific article published on 01 March 2015

Guidelines for the management of children at risk of secondary bone fragility: Expert opinion of a French working group

scientific article published on 10 September 2020

High Frequency of X Chromosome Abnormalities in Women With Short Stature and Elevated Liver Enzymes

scientific article published on 14 April 2014

High incidence of cranial synostosis and Chiari I malformation in children with X-linked hypophosphatemic rickets (XLHR)

article

Higher methylation of the IGF1 P2 promoter is associated with idiopathic short stature

scientific article published on 03 September 2015

Human dentin characteristics of patients with osteogenesis imperfecta: insights into collagen-based biomaterials

scientific article published on 26 October 2020

Hydrolyzed Rice Protein-Based Formulas, a Vegetal Alternative in Cow's Milk Allergy

scientific article published on 31 August 2020

Hyperparathyroidism in Patients With X-Linked Hypophosphatemia

scientific article published on 26 February 2020

Hypocalcaemic and hypophosphatemic rickets

scientific article published on 04 July 2018

Hypophosphatasia in children and adolescents: clinical features and treatment.

scientific article published in May 2017

Hypophosphatasia.

scientific article published on 15 April 2016

Hypophosphatasia: better knowledge for better care….

scientific article published in May 2017

Hypophosphatasia: the contribution of imaging.

scientific article published in May 2017

Impaired mineral quality in dentin in X-linked hypophosphatemia.

scientific article

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

scientific article published on March 2016

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

scientific article

Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients

scientific article published on 01 December 2020

Increased prevalence of overweight and obesity in children with X-linked hypophosphatemia

scientific article published on 01 February 2020

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

scientific article published on 14 April 2010

Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.

scientific article published on 4 November 2014

Les maladies pédiatriques à révélation dentaire

scientific article published on 01 May 2015

Long-term outcome of liver transplantation in childhood: A study of 20-year survivors

scientific article published on 15 December 2017

Long-term results of continuous subcutaneous recombinant PTH (1-34) infusion in children with refractory hypoparathyroidism

scientific article published on 24 August 2011

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth

scientific article

Lower incidence of fracture after IV bisphosphonates in girls with Rett syndrome and severe bone fragility

scientific article published on 26 October 2017

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

scientific article

Macroprolactinomas in children and adolescents: factors associated with the response to treatment in 77 patients

scientific article published on 22 December 2014

Magnetic Resonance Imaging Features as Surrogate Markers of X-Linked Hypophosphatemic Rickets Activity

scientific article published on 03 April 2017

Management of X-linked hypophosphatemia in adults

scientific article published on 18 December 2019

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

Methylation and transcripts expression at the imprinted GNAS locus in human embryonic and induced pluripotent stem cells and their derivatives

scientific article published on 7 August 2014

Mitotane (op'DDD) restores growth and puberty in nine children with Cushing's disease

scientific article published on 01 December 2018

Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

scientific article published on 29 September 2015

Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia.

scientific article

Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.

scientific article published on 25 July 2017

Multilocus methylation defects in imprinting disorders.

scientific article published on March 2015

Multiple hormonal resistances: Diagnosis, evaluation and therapy

scientific article published on 23 April 2015

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

scientific article

Near normalization of adult height and body proportions by growth hormone in pycnodysostosis

scientific article

Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms

scientific article published on 16 January 2015

Nutritional management of cow's milk allergy in children: An update

scientific article published on 22 March 2018

Osteopontin and the dento-osseous pathobiology of X-linked hypophosphatemia

scientific article

Outcomes of orthopedic surgery in a cohort of 49 patients with X-linked hypophosphatemic rickets (XLHR).

scientific article published on November 2017

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

scientific article published on 5 October 2012

Parathyroid hormone resistance syndromes - Inactivating PTH/PTHrP signaling disorders (iPPSDs)

scientific article published on 28 September 2018

Phosphate and Vitamin D Prevent Periodontitis in X-Linked Hypophosphatemia

scientific article published on 13 November 2016

Pineal cysts in children

scientific article published on 10 August 2011

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

Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population

scientific article published on 01 December 2020

Primary hyperparathyroidism in pregnancy

scientific article published on 14 May 2013

Progressive Development of PTH Resistance in Patients With Inactivating Mutations on the Maternal Allele of GNAS.

scientific article

Pseudohypoparathyroidism

scientific article published on 12 October 2018

Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence

scientific article published on 06 October 2020

Puberty in subjects with complete androgen insensitivity syndrome

scientific article

Puberty, fertility and chronic diseases

scientific article

Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

scientific article published on 23 October 2010

Quantitative computed tomography in pediatric patients.

scientific article published on 5 February 2016

Recent Advances in Imprinting Disorders.

scientific article published on July 2016

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

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

scientific article published on 05 August 2020

Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance

scientific article (publication date: 9 June 2011)

Reimbursment of the serum CTX assay in France: the clinical biology nomenclature is incoherent

scientific article published in August 2016

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

scientific article published on 6 December 2015

Resistance to epinephrine and hypersensitivity (hyperresponsiveness) to CB1 antagonists in a patient with pseudohypoparathyroidism type Ic.

scientific article published on 14 January 2010

Risk of corrected QT interval prolongation after pamidronate infusion in children.

scientific article published on 25 May 2010

SAT-039 GNAS-miRNAs Are Likely Involved in the Phenotype of Patients with Pseudohypoparathyroidism 1B/iPPSD3.

scientific article

SAT-259 Natural History of Anthropometric Parametres of Obesity in Children Affected by X-Linked Hypophosphatemia: Longitudinal Obserbational Study.

scientific article published on 30 April 2019

SUN-529 Burden of Illness in Adults with Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry.

scientific article published on 30 April 2019

Safety Outcomes During Pediatric GH Therapy: Final Results From the Prospective GeNeSIS Observational Program

scientific article published on 01 February 2019

Serum GH concentration must now be expressed in mass units in France like in the rest of the world

scientific article published on 01 April 2018

Serum GH concentrations must now be expressed in mass units in France…as in the rest of the world

scientific article published in December 2017

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

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

Skeletal and extraskeletal disorders of biomineralization

scientific article published in 2022

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

scientific article

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

scientific article

The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations

scientific article published on 01 November 2017

The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey.

scientific article

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

The current landscape of European registries for rare endocrine conditions

scientific article published in January 2019

Therapeutic management of hypophosphatemic rickets from infancy to adulthood.

scientific article published on 14 March 2014

Tissue-specific mineralization defects in the periodontium of the Hyp mouse model of X-linked hypophosphatemia.

scientific article published on 29 July 2017

Tooth dentin defects reflect genetic disorders affecting bone mineralization

scientific article published on 26 January 2012

Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?

scientific article published on 10 May 2016

Trabecular Bone Score: Where are we now?

scientific article published on 24 April 2015

Transcriptional profiling at the domain explains clinical overlap between imprinting disorders

scientific article published on 20 February 2019

Treatment of chronic hypocalcaemia during childhood

scientific article published in June 2008

Treatment of heterotopic ossifications secondary to pseudohypoparathyroid.

scientific article published on 24 April 2015

Treatment with rhPTH in children

scientific article published on 21 April 2015

Two-year recombinant human growth hormone (rhGH) treatment is more effective in pre-pubertal compared to pubertal short children with X-linked hypophosphatemic rickets (XLHR).

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

X-linked hypophosphatemia: Management and treatment prospects

scientific article published on 31 January 2019

[Consequences of PTH resistance on adult bone]

scientific article published on 05 April 2007

[Fetus to newborn, insights on calcium and phosphorus metabolism]

scientific article published on 01 June 2005

[HAS report on vitamin D measurement: don't go from an extreme situation to another as extreme situation]

scientific article published on 01 January 2014

[Osteoporosis in children with cerebral palsy]

scientific article published on 01 June 2009

[Recommendations for the measurement of blood 25-OH vitamin D]

scientific article published on 01 January 2016

[The role of gonadal peptides in clinical investigation].

scientific article published in May 2009

[Weakening osteopathies, chronic kidney disease, malabsorption, biological anomalies of calium/phosphorus metabolism: appropriate indications for a reasoned reimbursment of serum vitamin D measurement]

scientific article published on 01 July 2014

[When and how to treat a central precocious puberty?]

scientific article published on 01 May 2002

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