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1

Pubertés précoces

Linglart, Agnès, Carel, Jean-Claude, Lahlou, Najiba, Roger, Marc, Adamsbaum, Catherine

Journal:

EMC - Endocrinologie - Nutrition

Year:

2004

Language:

french

File:

PDF, 579 KB

french, 2004

2

Burosumab Therapy in Children with X-Linked Hypophosphatemia

Carpenter, Thomas O., Whyte, Michael P., Imel, Erik A., Boot, Annemieke M., Högler, Wolfgang, Linglart, Agnès, Padidela, Raja, van’t Hoff, William, Mao, Meng, Chen, Chao-Yin, Skrinar, Alison, Kakkis,

Journal:

New England Journal of Medicine

Year:

2018

Language:

english

File:

PDF, 320 KB

english, 2018

3

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

Högler, Wolfgang, Langman, Craig, Gomes da Silva, Hugo, Fang, Shona, Linglart, Agnès, Ozono, Keiichi, Petryk, Anna, Rockman-Greenberg, Cheryl, Seefried, Lothar, Kishnani, Priya S.

Journal:

BMC Musculoskeletal Disorders

Year:

2019

Language:

english

File:

PDF, 580 KB

english, 2019

4

X-linked hypophosphatemia: Management and treatment prospects

Lambert, Anne-Sophie, Zhukouskaya, Volha, Rothenbuhler, Anya, Linglart, Agnès

Journal:

Joint Bone Spine

Year:

2019

Language:

english

File:

PDF, 1.75 MB

english, 2019

5

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

Agnès Linglart, Murat Bastepe, Harald Jüppner

Journal:

Clinical Endocrinology

Year:

2007

Language:

english

File:

PDF, 221 KB

english, 2007

6

Gonadotrophic status in adolescents with pituitary stalk interruption syndrome

Diane Rottembourg, Agnès Linglart, Catherine Adamsbaum, Najiba Lahlou, Cécile Teinturier, Pierre Bougnères, Jean-Claude Carel

Journal:

Clinical Endocrinology

Year:

2008

Language:

english

File:

PDF, 135 KB

english, 2008

7

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

Bastepe, Murat, Fröhlich, Leopold F, Linglart, Agnès, Abu-Zahra, Hilal S, Tojo, Katsuyoshi, Ward, Leanne M, Jüppner, Harald

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 302 KB

english, 2004

8

Autosomal-Dominant Pseudohypoparathyroidism Type Ib is Caused by Different Microdeletions Within or Upstream of the GNAS Locus

HARALD JÜPPNER, AGNÈS LINGLART, LEOPOLD F. FRÖHLICH, MURAT BASTEPE

Journal:

Annals of the New York Academy of Sciences

Year:

2006

Language:

english

File:

PDF, 85 KB

english, 2006

9

Infantile Hypercalcemia and Hypercalciuria: New Insights into a Vitamin D-Dependent Mechanism and Response to Ketoconazole Treatment

Minh Nguyen, Henri Boutignon, Eric Mallet, Agnes Linglart, Huguette Guillozo, Frederic Jehan, Michele Garabedian

Journal:

The Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 258 KB

english, 2010

10

A Pilot Study of Discontinuous, Insulin-Like Growth Factor 1–Dosing Growth Hormone Treatment in Young Children with FGFR3 N540K-Mutated Hypochondroplasia

Anya Rothenbuhler, Agnès Linglart, Catherine Piquard, Pierre Bougnères

Journal:

The Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 129 KB

english, 2012

11

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

Virginie Mariot, Joy Y. Wu, Cumhur Aydin, Giovanna Mantovani, Matthew J. Mahon, Agnès Linglart, Murat Bastepe

Journal:

Year:

2011

Language:

english

File:

PDF, 716 KB

english, 2011

12

A Novel STX16 Deletion in Autosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries of a cis-Acting Imprinting Control Element of GNAS

Agnès Linglart, Robert C. Gensure, Robert C. Olney, Harald Jüppner, Murat Bastepe

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.99 MB

english, 2005

13

De Novo STX16 Deletions: An Infrequent Cause of Pseudohypoparathyroidism Type Ib that Should Be Excluded in Sporadic Cases

Turan, Serap, Ignatius, Jaakko, Moilanen, Jukka S., Kuismin, Outi, Stewart, Helen, Mann, Nicholas P., Linglart, Agnès, Bastepe, Murat, Jüppner, Harald

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2012

Language:

english

File:

PDF, 733 KB

english, 2012

14

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

Linglart, Agnès, Maupetit-Méhouas, Stéphanie, Silve, Caroline

Journal:

Hormone Research in Paediatrics

Year:

2013

Language:

english

File:

PDF, 350 KB

english, 2013

15

From synthesis to replacement of parathyroid hormone

Linglart, Agnès, Rothenbuhler, Anya

Journal:

The Lancet Diabetes & Endocrinology

Year:

2013

Language:

english

File:

PDF, 115 KB

english, 2013

16

GNAS1 Lesions in Pseudohypoparathyroidism Ia and Ic: Genotype Phenotype Relationship and Evidence of the Maternal Transmission of the Hormonal Resistance

Linglart, Agnès, Carel, Jean Claude, Garabédian, Michèle, Lé, Tran, Mallet, Eric, Kottler, Marie Laure

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2002

Language:

english

File:

PDF, 330 KB

english, 2002

17

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

Roulot, Dominique, Malan, Valérie, Ziol, Marianne, Linglart, Agnès, Bourcier, Valérie, Beaugrand, Michel, Benzacken, Brigitte

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2014

Language:

english

File:

PDF, 71 KB

english, 2014

18

Kidney Function and Influence of Sunlight Exposure in Patients With Impaired 24-Hydroxylation of Vitamin D Due to CYP24A1 Mutations

Figueres, Marie-Lucile, Linglart, Agnès, Bienaime, Frank, Allain-Launay, Emma, Roussey-Kessler, Gwenaelle, Ryckewaert, Amélie, Kottler, Marie-Laure, Hourmant, Maryvonne

Journal:

American Journal of Kidney Diseases

Year:

2015

Language:

english

File:

PDF, 373 KB

english, 2015

19

Genetic Analysis and Evaluation of Resistance to Thyrotropin and Growth Hormone-Releasing Hormone in Pseudohypoparathyroidism Type Ib

Mantovani, Giovanna, Bondioni, Sara, Linglart, Agnès, Maghnie, Mohamad, Cisternino, Mariangela, Corbetta, Sabrina, Lania, Andrea G., Beck-Peccoz, Paolo, Spada, Anna

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2007

Language:

english

File:

PDF, 173 KB

english, 2007

20

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

Garin, Intza, Mantovani, Giovanna, Aguirre, Urko, Barlier, Anne, Brix, Bettina, Elli, Francesca M, Freson, Kathleen, Grybek, Virginie, Izzi, Benedetta, Linglart, Agnès, Perez de Nanclares, Guiomar, Si

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 702 KB

english, 2015

21

Novel Microdeletions Affecting the GNAS Locus in Pseudohypoparathyroidism: Characterization of the Underlying Mechanisms

Garin, Intza, Elli, Francesca M., Linglart, Agnes, Silve, Caroline, de Sanctis, Luisa, Bordogna, Paolo, Pereda, Arrate, Clarke, Joe T. R., Kannengiesser, Caroline, Coutant, Regis, Tenebaum-Rakover, Ya

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2015

Language:

english

File:

PDF, 882 KB

english, 2015

22

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

Eggermann, Thomas, Netchine, Irène, Temple, I, Tümer, Zeynep, Monk, David, Mackay, Deborah, Grønskov, Karin, Riccio, Andrea, Linglart, Agnès, Maher, Eamonn R

Journal:

Clinical Epigenetics

Year:

2015

Language:

english

File:

PDF, 1.03 MB

english, 2015

23

Macroprolactinomas in Children and Adolescents: Factors Associated With the Response to Treatment in 77 Patients

Salenave, Sylvie, Ancelle, Deborah, Bahougne, Thibaut, Raverot, Gérald, Kamenický, Peter, Bouligand, Jérôme, Guiochon-Mantel, Anne, Linglart, Agnès, Souchon, Pierre-François, Nicolino, Marc, Young, Ja

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2015

Language:

english

File:

PDF, 332 KB

english, 2015

24

Loss of Methylation at GNAS Exon A/B Is Associated With Increased Intrauterine Growth

Bréhin, Anne-Claire, Colson, Cindy, Maupetit-Méhouas, Stéphanie, Grybek, Virginie, Richard, Nicolas, Linglart, Agnès, Kottler, Marie-Laure, Jüppner, Harald

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2015

Language:

english

File:

PDF, 734 KB

english, 2015

25

Puberty in Subjects with Complete Androgen Insensitivity Syndrome

Papadimitriou, Dimitrios T., Linglart, Agn&egrave, s, Morel, Yves, Chaussain, Jean-Louis

Journal:

Hormone Research

Year:

2006

Language:

english

File:

PDF, 115 KB

english, 2006

26

PRKAR1A and PDE4D Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance

Linglart, Agnès, Fryssira, Helena, Hiort, Olaf, Holterhus, Paul-Martin, Perez de Nanclares, Guiomar, Argente, Jesús, Heinrichs, Claudine, Kuechler, Alma, Mantovani, Giovanna, Leheup, Bruno, Wicart, Ph

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2012

Language:

english

File:

PDF, 1.57 MB

english, 2012

27

Multiple hormonal resistances: Diagnosis, evaluation and therapy

Linglart, Agnès, Silve, Caroline, Rothenbuhler, Anya

Journal:

Annales d'Endocrinologie

Year:

2015

Language:

english

File:

PDF, 166 KB

english, 2015

28

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

Garin, Intza, Mantovani, Giovanna, Aguirre, Urko, Barlier, Anne, Brix, Bettina, Elli, Francesca M, Freson, Kathleen, Grybek, Virginie, Izzi, Benedetta, Linglart, Agne's, de Nanclares, Guiomar Perez, S

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 64 KB

english, 2015

29

Clinical utility gene card for: Pseudohypoparathyroidism

Mantovani, Giovanna, Linglart, Agnes, Garin, Intza, Silve, Caroline, Elli, Francesca M, de Nanclares, Guiomar Perez

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 225 KB

english, 2013

30

Recurrent PRKAR1A Mutation in Acrodysostosis with Hormone Resistance

Linglart, Agnès, Menguy, Christine, Couvineau, Alain, Auzan, Colette, Gunes, Yasemin, Cancel, Mathilde, Motte, Emmanuelle, Pinto, Graziella, Chanson, Philippe, Bougnères, Pierre, Clauser, Eric, Silve,

Journal:

Boston Medical and Surgical Journal

Year:

2011

Language:

english

File:

PDF, 350 KB

english, 2011

31

Multilocus methylation defects in imprinting disorders

Mackay, Deborah J.G., Eggermann, Thomas, Buiting, Karin, Garin, Intza, Netchine, Irène, Linglart, Agnès, de Nanclares, Guiomar Perez

Journal:

BioMolecular Concepts

Year:

2015

Language:

english

File:

PDF, 1.12 MB

english, 2015

32

Endocrine Manifestations of the Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neural Tumor Syndrome in Childhood

Bougnères, Pierre, Pantalone, Letitia, Linglart, Agnès, Rothenbühler, Anya, Le Stunff, Catherine

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2008

Language:

english

File:

PDF, 199 KB

english, 2008

33

Long-Term Results of Continuous Subcutaneous Recombinant PTH (1-34) Infusion in Children with Refractory Hypoparathyroidism

Linglart, Agnès, Rothenbuhler, Anya, Gueorgieva, Iva, Lucchini, Philippe, Silve, Caroline, Bougnères, Pierre

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2011

File:

PDF, 411 KB

2011

34

Long-Term Results of Continuous Subcutaneous Recombinant PTH (1-34) Infusion in Children with Refractory Hypoparathyroidism

Linglart, Agnès, Rothenbuhler, Anya, Gueorgieva, Iva, Lucchini, Philippe, Silve, Caroline, Bougnères, Pierre

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2011

Language:

english

File:

PDF, 411 KB

english, 2011

35

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

Ouni, Meriem, Castell, Anne-Laure, Linglart, Agnès, Bougnères, Pierre

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2015

Language:

english

File:

PDF, 486 KB

english, 2015

36

Coding GNAS Mutations Leading to Hormone Resistance Impair in Vitro Agonist- and Cholera Toxin-Induced Adenosine Cyclic 3′,5′-Monophosphate Formation Mediated by Human XLαs

Linglart, Agnès, Mahon, Matthew J., Kerachian, Mohammad A., Berlach, David M., Hendy, Geoffrey N., Jüppner, Harald, Bastepe, Murat

Journal:

Year:

2006

Language:

english

File:

PDF, 506 KB

english, 2006

37

Near Normalization of Adult Height and Body Proportions by Growth Hormone in Pycnodysostosis

Rothenbühler, Anya, Piquard, Catherine, Gueorguieva, Iva, Lahlou, Najiba, Linglart, Agnès, Bougnères, Pierre

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 118 KB

english, 2010

38

Recombinant Human GH Replacement Therapy in Children with Pseudohypoparathyroidism Type Ia: First Study on the Effect on Growth

Mantovani, Giovanna, Ferrante, Emanuele, Giavoli, Claudia, Linglart, Agnes, Cappa, Marco, Cisternino, Mariangela, Maghnie, Mohamad, Ghizzoni, Lucia, de Sanctis, Luisa, Lania, Andrea G., Beck-Peccoz, P

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 255 KB

english, 2010

39

Risk of Corrected QT Interval Prolongation after Pamidronate Infusion in Children

Rothenbuhler, Anya, Marchand, Isis, Bougnères, Pierre, Linglart, Agnès

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 74 KB

english, 2010

40

A Maternal Epimutation of GNAS Leads to Albright Osteodystrophy and Parathyroid Hormone Resistance

Mariot, Virginie, Maupetit-Méhouas, Stéphanie, Sinding, Christiane, Kottler, Marie-Laure, Linglart, Agnès

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2008

Language:

english

File:

PDF, 329 KB

english, 2008

41

Treatment with rhPTH in children

Rothenbuhler, Anya, Linglart, Agnès

Journal:

Annales d'Endocrinologie

Year:

2015

File:

PDF, 161 KB

2015

42

Treatment of heterotopic ossifications secondary to pseudohypoparathyroid

Guigonis, Vincent, Bahans, Claire, Ea, Korng, Bourrat, Emmanuelle, Lienhardt, Anne, Chabre, Olivier, Jost, Jeremy, Mutar, Hadile, Ratsimbazafy, Voa, Linglart, Agnès

Journal:

Annales d'Endocrinologie

Year:

2015

File:

PDF, 166 KB

2015

43

Mechanisms of Ligand Binding to the Parathyroid Hormone (PTH)/PTH-Related Protein Receptor: Selectivity of a Modified PTH(1–15) Radioligand for Gα S -Coupled Receptor Conformations

Dean, Thomas, Linglart, Agnes, Mahon, Matthew J., Bastepe, Murat, Jüppner, Harald, Potts, John T., Gardella, Thomas J.

Journal:

Molecular Endocrinology

Year:

2006

Language:

english

File:

PDF, 366 KB

english, 2006

44

Methylation and Transcripts Expression at the Imprinted GNAS Locus in Human Embryonic and Induced Pluripotent Stem Cells and Their Derivatives

Grybek, Virginie, Aubry, Laetitia, Maupetit-Méhouas, Stéphanie, Le Stunff, Catherine, Denis, Cécile, Girard, Mathilde, Linglart, Agnès, Silve, Caroline

Journal:

Stem Cell Reports

Year:

2014

Language:

english

File:

PDF, 1.63 MB

english, 2014

45

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

Lecoq, Anne-Lise, Bouligand, Jérôme, Hage, Mirella, Cazabat, Laure, Salenave, Sylvie, Linglart, Agnès, Young, Jacques, Guiochon-Mantel, Anne, Chanson, Philippe, Kamenicky, Peter

Journal:

European Journal of Endocrinology

Year:

2016

Language:

english

File:

PDF, 1.24 MB

english, 2016

46

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

Rochtus, Anne, Martin-Trujillo, Alejandro, Izzi, Benedetta, Elli, Francesca, Garin, Intza, Linglart, Agnes, Mantovani, Giovanna, Perez de Nanclares, Guiomar, Thiele, Suzanne, Decallonne, Brigitte, Van

Journal:

Clinical Epigenetics

Year:

2016

Language:

english

File:

PDF, 2.07 MB

english, 2016

47

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

Rhayem, Yara, Le Stunff, Catherine, Abdel Khalek, Waed, Auzan, Colette, Bertherat, Jerome, Linglart, Agnès, Couvineau, Alain, Silve, Caroline, Clauser, Eric

Journal:

Journal of Biological Chemistry

Year:

2015

Language:

english

File:

PDF, 2.63 MB

english, 2015

48

Hypophosphatasia

Linglart, Agnès, Biosse-Duplan, Martin

Journal:

Current Osteoporosis Reports

Year:

2016

Language:

english

File:

PDF, 425 KB

english, 2016

49

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

Che, Hélène, Roux, Christian, Etcheto, Adrien, Rothenbuhler, Anya, Kamenicky, Peter, Linglart, Agnès, Briot, Karine

Journal:

European Journal of Endocrinology

Year:

2016

Language:

english

File:

PDF, 174 KB

english, 2016

50

The Impact of Pediatric Eosinophilic Esophagitis on Bone Metabolism

Linglart, Agnes, Rothenbuhler, Anya, Adamsbaum, Catherine, Colson, Diana, Soulaines, Pascale, Dupont, Christophe

Journal:

Journal of Allergy and Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 38 KB

english, 2015

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