Agnes Linglart

Agnes Linglart

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Agnes Linglart

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

Metabolism 2020 Feb 27;103S:153892. Epub 2019 Mar 27.

APHP, Endocrinology and Diabetology for Children, Bicêtre Paris Sud Hospital, Le Kremlin-Bicêtre, France; APHP, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, filière OSCAR, Paris, France; APHP, Platform of Expertise for Rare Disorders Paris-Sud, Bicêtre Paris Sud Hospital, Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1016/j.metabol.2019.03.009DOI Listing
February 2020

Management of X-linked hypophosphatemia in adults.

Metabolism 2020 Feb 18;103S:154049. Epub 2019 Dec 18.

AP-HP, Department of Endocrinology and Reproductive Diseases, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, filière OSCAR, and Platform of Expertise for Rare Disorders, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France; Université Paris-Saclay, INSERM, Physiologie et Physiopathologie Endocriniennes, Le Kremlin-Bicêtre, France. Electronic address:

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http://dx.doi.org/10.1016/j.metabol.2019.154049DOI Listing
February 2020

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

Endocr Connect 2020 Feb;9(2):144-153

APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, FilièreOSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1530/EC-19-0481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993252PMC
February 2020

X-linked hypophosphatemia: Management and treatment prospects.

Joint Bone Spine 2019 Nov 31;86(6):731-738. Epub 2019 Jan 31.

Centre de référence des maladies rares du métabolisme du calcium et du phosphate, filière OSCAR and plateforme d'expertise maladies rares Paris-Sud, hôpital Bicêtre Paris Sud, AP-HP, 94270 Le Kremlin Bicêtre, France; Endocrinologie et diabète de l'enfant, hôpital Bicêtre Paris Sud, AP-HP, 94270 Le Kremlin Bicêtre, France; Inserm U1185 et université Paris Sud Paris-Saclay, Hôpital Bicêtre Paris Sud, 94270 Le Kremlin Bicêtre, France.

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http://dx.doi.org/10.1016/j.jbspin.2019.01.012DOI Listing
November 2019

Dental and craniofacial features associated with GNAS loss of function mutations.

Eur J Orthod 2019 Nov 7. Epub 2019 Nov 7.

APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Filière OSCAR and Plateforme d'Expertise Maladies Rares Paêris-Sud, Bicêtre Paris Sud Hospital, Le Kremlin Bicetre.

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http://dx.doi.org/10.1093/ejo/cjz084DOI Listing
November 2019

High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X-Linked Hypophosphatemic Rickets (XLHR).

J Bone Miner Res 2019 Mar 20;34(3):490-496. Epub 2018 Nov 20.

Pediatric Neurosurgery, Hôpital Femme Mère Enfant, Hospices Civiles de Lyon and University Claude Bernard Lyon 1, Bron Cedex, France.

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http://dx.doi.org/10.1002/jbmr.3614DOI Listing
March 2019

Impaired mineral quality in dentin in X-linked hypophosphatemia.

Connect Tissue Res 2018 12;59(sup1):91-96

a Orofacial Pathologies, Imaging and Biotherapies Laboratory EA2496, Dental School , Paris Descartes University , Paris , France.

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http://dx.doi.org/10.1080/03008207.2017.1417989DOI Listing
December 2018

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

Endocr Connect 2018 Dec;7(12):1280-1287

Assistance Publique Hôpitaux de Paris (APHP), Department of Endocrinology and Diabetes for Children, Bicêtre Paris-Sud, Le Kremlin Bicêtre, France.

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http://dx.doi.org/10.1530/EC-18-0215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240149PMC
December 2018

Pseudohypoparathyroidism.

Endocrinol Metab Clin North Am 2018 12 12;47(4):865-888. Epub 2018 Oct 12.

Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, 50 Blossom street, Boston, MA 02114, USA; Pediatric Nephrology Unit, Massachusetts General Hospital, Harvard Medical School, 50 Blossom street, Boston, MA 02114, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S08898529183054
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http://dx.doi.org/10.1016/j.ecl.2018.07.011DOI Listing
December 2018

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

Best Pract Res Clin Endocrinol Metab 2018 12 28;32(6):941-954. Epub 2018 Sep 28.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.beem.2018.09.008DOI Listing
December 2018

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

Horm Res Paediatr 2018 19;89(4):271-277. Epub 2017 Sep 19.

Department of Pediatric Endocrinology, Bicêtre Hospital, Paris, France.

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http://dx.doi.org/10.1159/000479867DOI Listing
October 2018

Burosumab Therapy in Children with X-Linked Hypophosphatemia.

N Engl J Med 2018 05;378(21):1987-1998

From Yale University School of Medicine, New Haven, CT (T.O.C.); Shriners Hospital for Children and Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis (M.P.W.); Indiana University School of Medicine, Indianapolis (E.A.I.); University of Groningen, Groningen, the Netherlands (A.M.B.); Birmingham Children's Hospital, Birmingham (W. Högler), Royal Manchester Children's Hospital, Manchester (R.P.), and Great Ormond Street Hospital, London (W. van't Hoff) - all in the United Kingdom; Assistance Publique-Hôpitaux de Paris Hôpital Bicêtre, Paris (A.L.); and Ultragenyx Pharmaceutical, Novato (M.M., C.-Y.C., A.S., E.K., J.S.M.), and University of California at San Francisco, San Francisco (A.A.P.) - both in California.

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http://dx.doi.org/10.1056/NEJMoa1714641DOI Listing
May 2018

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

Ann Biol Clin (Paris) 2018 Apr;76(2):133-134

Service des explorations fonctionnelles, Hôpital Necker-Enfants malades, Assistance Publique des Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1684/abc.2018.1322DOI Listing
April 2018

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

Horm Res Paediatr 2017 3;87(4):244-253. Epub 2017 Apr 3.

AP-HP, Bicêtre Paris-Sud Hospital, Department of Pediatric Endocrinology, Diabetology and Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Filière OSCAR and Platform of Expertise Paris-Sud for Rare Diseases, Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1159/000464142DOI Listing
March 2018

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

Ann Endocrinol (Paris) 2017 Dec;78(6):488-489

Service des explorations fonctionnelles, hôpital Necker-Enfants malades, Assistance publique des hôpitaux de Paris (AP-HP), 149, rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.ando.2017.11.002DOI Listing
December 2017

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

Pediatr Endocrinol Rev 2017 Nov;15(Suppl 1):92-97

Molecular (Epi)Genetics Laboratory, BioAraba National Health Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Spain.

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http://dx.doi.org/10.17458/per.vol15.2017.lmg.pseudohypoparathyroidismDOI Listing
November 2017

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).

Growth Horm IGF Res 2017 10 15;36:11-15. Epub 2017 Aug 15.

Department of Pediatric Endocrinology and Diabetes, Centre de Reference des Maladies Rares du Metabolisme du Calcium et du Phophore, Pole I3E, Bicetre Hospital, Paris Sud University, APHP, 94275 Le Kremlin Bicetre, France.

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http://dx.doi.org/10.1016/j.ghir.2017.08.001DOI Listing
October 2017

Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.

Mol Genet Metab 2017 09 25;122(1-2):4-17. Epub 2017 Jul 25.

Department of Pediatrics, Osaka University, Suita, Osaka 565-0871, Japan.

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http://dx.doi.org/10.1016/j.ymgme.2017.07.010DOI Listing
September 2017

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

J Clin Endocrinol Metab 2017 06;102(6):1844-1850

Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Platform of Expertise Paris-Sud for Rare Diseases and Filière OSCAR, AP-HP, Bicêtre Paris-Sud Hospital, 94270 Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1210/jc.2016-3544DOI Listing
June 2017

Bone dysplasia.

Ann Endocrinol (Paris) 2017 Jun 8;78(2):114-122. Epub 2017 May 8.

Service de radiologie pédiatrique, plateforme d'expertise Paris Sud des maladies rares, filière OSCAR, Medical School, hôpital Bicêtre Paris Sud, Paris-Sud University, AP-HP, 94270 Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1016/j.ando.2017.04.011DOI Listing
June 2017

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

Bone 2017 02 21;95:151-161. Epub 2016 Nov 21.

Faculty of Dentistry, McGill University, Montreal, QC, Canada; Department of Anatomy and Cell Biology, Faculty of Medicine, McGill University, Montreal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2016.11.019DOI Listing
February 2017

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.

Int J Pediatr Endocrinol 2017 27;2017. Epub 2017 Feb 27.

Department of Pediatric Endocrinology, Bicêtre Hospital, Pôle I3E, AP-HP, Paris Sud University, 94275 Le Kremlin Bicêtre, France.

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http://dx.doi.org/10.1186/s13633-017-0043-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5327564PMC
February 2017

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

Ann Biol Clin (Paris) 2016 Jan-Feb;74(1):7-19

Service de rhumatologie, CHU de Saint-Étienne, France.

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http://dx.doi.org/10.1684/abc.2015.1107DOI Listing
December 2016

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

Eur J Endocrinol 2016 Dec 11;175(6):P1-P17. Epub 2016 Jul 11.

APHPReference Center for rare disorders of the Calcium and Phosphate Metabolism, filière OSCAR and Plateforme d'Expertise Maladies Rares Paris-Sud, Hôpital Bicêtre Paris Sud, Le Kremlin Bicêtre, France

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http://dx.doi.org/10.1530/EJE-16-0107DOI Listing
December 2016

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

Authors:
Jean-Claude Souberbielle Claude Laurent Benhamou Bernard Cortet Mickael Rousière Christian Roux Vered Abitbol Cédric Annweiler Maurice Audran Justine Bacchetta Pierre Bataille Olivier Beauchet Rémi Bardet Alexandra Benachi Francis Berenbaum Hubert Blain Françoise Borson-Chazot Véronique Breuil Karine Briot Philippe Brunet Jean-Claude Carel Philippe Caron Olivier Chabre Philippe Chanson Roland Chapurlat Pierre Cochat Régis Coutant Sophie Christin-Maitre Martine Cohen-Solal Christian Combe Catherine Cormier Marie Courbebaisse Grégory Debrus Brigitte Delemer Georges Deschenes Marc Duquenne Guillaume Duval Patrice Fardellone Denis Fouque Gérard Friedlander Jean-Bernard Gauvain Lionel Groussin Pascal Guggenbuhl Pascal Houillier Thierry Hannedouche William Jacot Rose-Marie Javier Guillaume Jean Claude Jeandel Dominique Joly Peter Kamenicky Bertrand Knebelmann Marie-Hélène Lafage-Proust Yves LeBouc Erick Legrand Florence Levy-Weil Agnès Linglart Laurent Machet Emmanuel Maheu Eric Mallet Christian Marcelli Pierre Marès Christophe Mariat Gérard Maruani Yves Maugars France Montagnon Bruno Moulin Philippe Orcel Henri Partouche Virginie Personne Charles Pierrot-Deseilligny Michel Polak Claire Pouteil-Noble Dominique Prié Agathe Raynaud-Simon Yves Rolland Jean-Louis Sadoul Bernard Salle Corinne Sault Anne-Marie Schott Isabelle Sermet-Gaudelus Martin Soubrier Ivan Tack Eric Thervet Isabelle Tostivint Philippe Touraine Florence Tremollières Pablo Urena-Torres Jean-Paul Viard Jean-Louis Wemeau Georges Weryha Norbert Winer Jacques Young Thierry Thomas

Geriatr Psychol Neuropsychiatr Vieil 2016 Dec;14(4):377-382

Service de rhumatologie, CHU de Saint-Etienne, Saint-Etienne, France.

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http://dx.doi.org/10.1684/pnv.2016.0631DOI Listing
December 2016

The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.

J Clin Endocrinol Metab 2016 10 18;101(10):3657-3668. Epub 2016 Jul 18.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (F.M.E., E.V., P.B., G.M.), Department of Clinical Sciences and Community Health, University of Milan, Endocrinology and Diabetology Unit, Milan, Italy; APHP (A.L., V.G., P.H.), Reference Center for Rare Disorders of the Mineral Metabolism and Plateforme d'expertise Paris Sud Maladies Rares, Le Kremlin Bicêtre, France; INSERM U1169 (A.L., V.G., P.H.), Hôpital Bicêtre, Le Kremlin Bicêtre, et Université Paris-Saclay, France; Molecular (Epi)Genetics Laboratory (I.G., A.P., G.P.d.N.), BioAraba National Health Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Spain; Department of Public Health and Pediatrics (L.d.S., F.G.), University of Turin, Regina Margherita Children's Hospital, Health and Science City, Turin, Italy; Department of Biochemistry and Molecular Biology (A.P.), University of Basque Country, Leioa, Spain.

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http://dx.doi.org/10.1210/jc.2015-4310DOI Listing
October 2016

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

J Clin Endocrinol Metab 2016 07 10;101(7):2810-5. Epub 2016 May 10.

Pharmacie (J.J., V.R.), Inserm, Université de Limoges, Centre Hospitalo Universitaire de Limoges, Unité Mixte de Recherche Scientifique 1094, Institut d'Epidémiologie Neurologique et de Neurologie tropicale, Centre National de la Recherche Scinetifique Fédération de Recherche 3503 Génomique, Environnement, Immunité, Santé et Thérapie Pédiatrie (C.B., A.Lie., H.M., V.G.), Comité de l'HME pour la Recherche Clinique Centre Hospitalier Universitaire; and Centre d'Investigation Clinique (E.P.), Centre Hospitalier Universitaire, 87000 Limoges, France; Assistance Publique-Hôpitaux de Paris (M.C.), Hôpital Européen Georges Pompidou, Département de Physiologie; Université Paris Descartes, Faculté de Médecine; and Institut Necker Enfants-Malades, Inserm Unité 1151, Centre National de la Recherche Scientifique Unité Mixte de Recherche 8253, 75000 Paris, France; Pédiatrie (T.-A.T.), Centre Hospitalier Universitaire de Nîmes; Inserm Unité 1183, Faculté de Médecine Montpellier-Nîmes, 30000 Nîmes France; Assistance Publique-Hôpitaux de Paris (A.Lin.), Centre de Référence des Maladies Rare du Métabolisme Phosphocalcique et Plateforme d'Expertise Paris Sud Maladies Rares; and Inserm Unité 1169, Le Kremlin Bicêtre 94270, France; Génétique Médicale (K.B.), Hôpital Raymond Poincaré, 92380 Garches, France; and Centre National de la Recherche Scinetifique Unité Mixte de Recherche 7276 (V.G.), Université de Limoges, 87000 Limoges, France.

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http://dx.doi.org/10.1210/jc.2016-1087DOI Listing
July 2016

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

Horm Res Paediatr 2013 29;79(3):119-29. Epub 2013 Mar 29.

Endocrinology and Diabetology for Children and French Center of Reference for Rare Disorders of Calcium and Phosphorus Metabolism, Bicêtre-Paris-Sud Hospital, Le Kremlin Bicêtre, France.

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http://dx.doi.org/10.1159/000348516DOI Listing
June 2016

Hypophosphatasia.

Curr Osteoporos Rep 2016 06;14(3):95-105

APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism and Plateforme d'Expertise Paris Sud Maladies Rares, Le Kremlin Bicêtre, 94270, France.

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http://dx.doi.org/10.1007/s11914-016-0309-0DOI Listing
June 2016

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

J Clin Endocrinol Metab 2016 05 10;101(5):2185-95. Epub 2016 Mar 10.

Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou (R.V.-P., L.M.-H., C.Tra., C.Sim., C.Tre., X.J.), Service de Génétique, Paris, France; INSERM, UMR970 (R.V.-P., L.M.-H., C.Tre., S.R.K., X.J.), Paris-Centre de Recherche Cardiovasculaire, Paris, France; Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (R.V.-P., J.-P.B., V.B., M.-A.M., X.J., P.H.), Paris, France; Faculté de Médecine (L.M.-H., S.Bar., J.-P.B., X.J., P.H.), Université Paris Descartes, Paris, France; Département de Physiologie (S.Bar., J.-P.B., G.M., P.H.), Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France; Service de Néphrologie (V.B., M.-A.M.), Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, Paris, France; Service d'Endocrinologie (S.Bel.), Centre Hospitalier de Vienne, Vienne, France; Département de Pédiatrie (F.B.), Centre Hospitalier Universitaire de Rouen, Rouen, France; Service de Pédiatrie (O.C., D.R.), Centre Hospitalier de Niort, Niort, France; Département de Néphrologie (S.C.), Centre Hospitalier Universitaire de Tours, Tours, France; Département de Rhumatologie A (C.C.), Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, Paris, France; Service d'endocrinologie (X.D.), Centre hospitalier Felix Guyon, St Denis de la Réunion, France; Service de Médicine Interne (E.D.), Centre Hospitalier Henri Mondor d'Aurillac, Aurillac, France; Service d'Endocrinologie (C.D.), Centre Hospitalier de Perpignan, Perpignan, France; Département de Physiologie (J.-P.H.), Assistance Publique-Hôpitaux de Paris, Hôpital Tenon, Paris, France; Département d'Endocrinologie (J.-M.K.), Centre Hospitalier Universitaire de Rouen, Rouen, France; Service d'Endocrinologie (G.L.), Centre Hospitalier de Niort, Niort, France; Assistance Publique-Hôpitaux de Paris, Service d'Endocrinologie Pédiatrique (A.L.), Hôpital Kremlin Bicêtre, Le Kremlin-Bicêtre, France; Service d'Endocrinologie

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http://dx.doi.org/10.1210/jc.2015-3442DOI Listing
May 2016

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

Eur J Endocrinol 2016 Apr 20;174(4):523-30. Epub 2016 Jan 20.

Faculté de Médecine Paris-SudUniversité Paris-Sud, Université Paris-Saclay, UMR-S1185, 94276 Le Kremlin Bicêtre, FranceAssistance Publique-Hôpitaux de ParisHôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, 94275 Le Kremlin-Bicêtre, FranceService de Génétique moléculairePharmacogénétique et Hormonologie, 94275 Le Kremlin-Bicêtre, FranceService d'Endocrinologie Pédiatrique94275 Le Kremlin-Bicêtre, FranceInstitut National de la Santé et de la Recherche Médicale (INSERM) U118594276 Le Kremlin-Bicêtre, France Faculté de Médecine Paris-SudUniversité Paris-Sud, Université Paris-Saclay, UMR-S1185, 94276 Le Kremlin Bicêtre, FranceAssistance Publique-Hôpitaux de ParisHôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, 94275 Le Kremlin-Bicêtre, FranceService de Génétique moléculairePharmacogénétique et Hormonologie, 94275 Le Kremlin-Bicêtre, FranceService d'Endocrinologie Pédiatrique94275 Le Kremlin-Bicêtre, FranceInstitut National de la Santé et de la Recherche Médicale (INSERM) U118594276 Le Kremlin-Bicêtre, France Faculté de Médecine Paris-SudUniversité Paris-Sud, Université Paris-Saclay, UMR-S1185, 94276 Le Kremlin Bicêtre, FranceAssistance Publique-Hôpitaux de ParisHôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, 94275 Le Kremlin-Bicêtre, FranceService de Génétique moléculairePharmacogénétique et Hormonologie, 94275 Le Kremlin-Bicêtre, FranceService d'Endocrinologie Pédiatrique94275 Le Kremlin-Bicêtre, FranceInstitut National de la Santé et de la Recherche Médicale (INSERM) U118594276 Le Kremlin-Bicêtre, France

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http://dx.doi.org/10.1530/EJE-15-1044DOI Listing
April 2016

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

Clin Epigenetics 2016 26;8:10. Epub 2016 Jan 26.

Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Campus Gasthuisberg, O&N1, Herestraat 49, Box 911, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1186/s13148-016-0175-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728790PMC
April 2016

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

Am J Med Genet A 2016 Mar 6;170(3):734-42. Epub 2015 Dec 6.

Molecular (Epi)Genetics Laboratory, BioAraba National Health Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Spain.

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http://dx.doi.org/10.1002/ajmg.a.37490DOI Listing
March 2016

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

Eur J Endocrinol 2016 Mar;174(3):325-33

Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France

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http://dx.doi.org/10.1530/EJE-15-0661DOI Listing
March 2016

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

Clin Epigenetics 2016 7;8:27. Epub 2016 Mar 7.

Endocrinology and diabetology for children and reference center for rare disorders of calcium and phosphorus metabolism, Bicêtre Paris Sud, APHP, Le Kremlin-Bicêtre, France ; INSERM U986, INSERM, Le Kremlin-Bicêtre, France ; INSERM, UMR_S 938, CDR Saint-Antoine, Paris, F-75012 France.

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http://dx.doi.org/10.1186/s13148-016-0194-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782320PMC
March 2016

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

Clin Endocrinol (Oxf) 2016 Feb 3;84(2):216-221. Epub 2015 Sep 3.

Institut National de la Santé et de la Recherche Médicale U986, Bicêtre Hospital, Paris Sud University, Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1111/cen.12867DOI Listing
February 2016

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

J Biol Chem 2015 Nov 24;290(46):27816-28. Epub 2015 Sep 24.

From the INSERM U970, Université Paris Descartes, Paris Centre de Recherche Cardiovasculaire, 56 Rue Leblanc, 75015 Paris, France, the Service de Biochimie et Génétique Moléculaire and

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http://dx.doi.org/10.1074/jbc.M115.656553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4646027PMC
November 2015

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

Clin Epigenetics 2015 14;7:123. Epub 2015 Nov 14.

Endocrinology and diabetology for children and reference center for rare disorders of calcium and phosphorus metabolism, Bicêtre Paris Sud, APHP, Le Kremlin-Bicêtre, France ; INSERM U986, INSERM, Le Kremlin-Bicêtre, France ; INSERM, UMR_S 938, CDR Saint-Antoine, Paris, F-75012 France.

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http://dx.doi.org/10.1186/s13148-015-0143-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4650860PMC
November 2015

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

Authors:
Jean-Claude Souberbielle Claude Laurent Benhamou Bernard Cortet Mickael Rousière Christian Roux Vered Abitbol Cédric Annweiler Maurice Audran Justine Bacchetta Pierre Bataille Olivier Beauchet Rémi Bardet Alexandra Benachi Francis Berenbaum Hubert Blain Françoise Borson-Chazot Véronique Breuil Karine Briot Philippe Brunet Jean-Claude Carel Philippe Caron Olivier Chabre Philippe Chanson Roland Chapurlat Pierre Cochat Régis Coutant Sophie Christin-Maitre Martine Cohen-Solal Christian Combe Catherine Cormier Marie Courbebaisse Grégory Debrus Brigitte Delemer Georges Deschenes Marc Duquenne Patrice Fardellone Denis Fouque Gérard Friedlander Jean-Bernard Gauvain Lionel Groussin Pascal Guggenbuhl Pascal Houillier Thierry Hannedouche William Jacot Rose-Marie Javier Guillaume Jean Claude Jeandel Dominique Joly Peter Kamenicky Bertrand Knebelmann Marie-Hélène Lafage-Proust Yves LeBouc Erick Legrand Florence Levy-Weil Agnès Linglart Laurent Machet Emmanuel Maheu Eric Mallet Christian Marcelli Pierre Marès Christophe Mariat Gérard Maruani Yves Maugars France Montagnon Bruno Moulin Philippe Orcel Henri Partouche Virginie Personne Charles Pierrot-Deseilligny Michel Polak Claire Pouteil-Noble Dominique Prié Agathe Raynaud-Simon Yves Rolland Jean-Louis Sadoul Bernard Salle Corinne Sault Anne-Marie Schott Isabelle Sermet-Gaudelus Martin Soubrier Ivan Tack Éric Thervet Isabelle Tostivint Philippe Touraine Florence Tremollières Pablo Urena-Torres Jean-Paul Viard Jean-Louis Wemeau Georges Weryha Norbert Winer Jacques Young Thierry Thomas

Ann Biol Clin (Paris) 2014 Jul-Aug;72(4):385-9

Service de rhumatologie, CHU de Saint-Etienne, Saint-Etienne, France.

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http://dx.doi.org/10.1684/abc.2014.0972DOI Listing
October 2015

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

J Clin Endocrinol Metab 2015 Jun 2;100(6):E919-25. Epub 2015 Apr 2.

Institut National de la Santé et de la Recherche Médicale Unité 986 (M.O., A.-L.C., A.L., P.B.) and Department of Pediatric Endocrinology and Diabetes (A.-L.C., A.L., P.B.), Paris Sud University, Bicêtre Hospital, 94275 Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1210/jc.2015-1413DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4454803PMC
June 2015

Treatment with rhPTH in children.

Ann Endocrinol (Paris) 2015 May 21;76(2):178-9. Epub 2015 Apr 21.

Endocrinologie pédiatrique et centre de référence des maladies rares du métabolisme du calcium et du phosphore, hôpital Bicêtre, 78, rue du Général-Leclerc, 94270 Le Kremlin Bicêtre, France.

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http://dx.doi.org/10.1016/j.ando.2015.03.030DOI Listing
May 2015

Multiple hormonal resistances: Diagnosis, evaluation and therapy.

Ann Endocrinol (Paris) 2015 May 23;76(2):98-100. Epub 2015 Apr 23.

Endocrinology and diabetology for children, Paris 11 University, French center of reference for rare disorders of calcium and phosphorus metabolism, Bicêtre-Paris-Sud Hospital, Le Kremlin-Bicêtre, France; Inserm U1169, Bicêtre-Paris-Sud Hospital, Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1016/j.ando.2015.03.029DOI Listing
May 2015

Treatment of heterotopic ossifications secondary to pseudohypoparathyroid.

Ann Endocrinol (Paris) 2015 May 24;76(2):183-4. Epub 2015 Apr 24.

Endocrinologie pédiatrique, Bicêtre, AP-HP, Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1016/j.ando.2015.03.012DOI Listing
May 2015

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.

Int J Pediatr Endocrinol 2015 16;2015(1). Epub 2015 Feb 16.

Department of Pediatric Endocrinology, Bicêtre Hospital, Pôle I3E, AP-HP, Paris Sud University, 94275 Le Kremlin Bicêtre, France.

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http://ijpeonline.biomedcentral.com/articles/10.1186/1687-98
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http://dx.doi.org/10.1186/1687-9856-2015-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429943PMC
May 2015

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

J Clin Endocrinol Metab 2015 Apr 16;100(4):E681-7. Epub 2015 Jan 16.

Molecular (Epi)Genetics Laboratory (I.G., A.P., G.P.dN.), BioAraba National Health Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, 01009, Spain; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Endocrinology and Diabetology Unit, Department of Clinical Sciences and Community Health (F.M.E., P.B., G.M.), University of Milan, Milan, 20122, Italy; INSERM U986 (A.L., C.S.), Hôpital Bicêtre, Le Kremlin Bicêtre, 94270, France; Service d'Endocrinologie Pédiatrique (A.L.), Hôpital Bicêtre-Assistance Publique Hôpitaux de Paris, 75475, France; Centre de Référence des Maladies Rares du Métabolisme du calcium et du phosphore Hôpital Bicêtre (A.L., C.S.), Le Kremlin Bicêtre, 94270, France; Laboratoire de Biochimie Hormonale et Génétique (C.S., C.K.), Hôpital Bichat Claude Bernard-Assistance Publique Hôpitaux de Paris, Paris, 75018, France; Department of Public Health and Pediatrics (L.dS.), University of Turin, Regina Margherita Children's Hospital, Turin, 10126, Italy; Service de génétique (J.T.R.C.), Centre hospitalier universitaire, Sherbrooke, J1G 2E8, Canada; Department of Pediatric Endocrinology (R.C.), University Hospital, Angers, 49007, France; Pediatric Endocrine Unit (Y.T.-R., O.A.), Ha'Emek Medical Center, Afula, 18101, Israel.

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http://dx.doi.org/10.1210/jc.2014-3098DOI Listing
April 2015

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

J Clin Endocrinol Metab 2015 Apr 20;100(4):E623-31. Epub 2015 Jan 20.

Department of Genetics (A.-C.B., C.C., N.R., M.-L.K.), Centre Hospitalier Universitaire de Caen, Reference Centre for Rare Disorders of Calcium and Phosphorus Metabolism, F-14000 Caen, France; Paediatric Endocrinology and Diabetology (S.M.-M., V.G., A.L.), Reference Centre for Rare Disorders of the Mineral Metabolism, AP-HP Hôpital Bicêtre, le Kremlin-Bicêtre 94270, France; Faculté de Médecine, Université Paris Sud, le Kremlin-Bicêtre 94270, France; and Pediatric Nephrology Unit and Endocrine Unit (H.J.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114.

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http://dx.doi.org/10.1210/jc.2014-4047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4399294PMC
April 2015

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

J Clin Endocrinol Metab 2015 Mar 22;100(3):1177-86. Epub 2014 Dec 22.

Service d'Endocrinologie et des Maladies de la Reproduction and Centre de Référence des Maladies Endocriniennes Rares de la Croissance (S.S., T.B., P.K., J.Y., P.C.), and Service de Génétique Moléculaire, Pharmacogénétique, et Hormonologie (J.B., A.G.-M.), and Service d'Endocrinologie Pédiatrique and Centre de Référence des Maladies Rares du Métabolisme Phospho-Calcique, (A.L.), Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Le Kremlin-Bicêtre, F-94275, France; Service d'Endocrinologie (D.A., B.D.) and Service de Pédiatrie (P.-F.S.), Centre Hospitalier Universitaire de Reims, Hôpital Robert Debré, Reims, F-51092, France; Faculté de Médecine (G.R., M.N., F.B.-C.), Université de Lyon, Lyon 1, Lyon-Est, Lyon F-69372 France; Fédération d'Endocrinologie (G.R., F.B.-C.) and Service d'Endocrinologie Pédiatrique (M.N.), Hôpital Femme-Mère-Enfant, Groupement Hospitalier Est, Hospices Civils de Lyon, Lyon, F-69003, France; Institut National de la Santé et de la Recherche Médicale Unité 1028 (G.R.), Centre National de la Recherche Scientifique, Unité Mixte de Recherche 5292, Lyon Neuroscience Research Center, Service de Neurooncology-Neuroinflammation, and INSERM Unité 1052 (F.B.-C.), Unité Mixte de Recherche Centre National de la Recherche Scientifique Unité 5286, Centre de Recherche en Cancérologie de Lyon, Equipe Tumeurs Endocrines, Lyon, F-69000, France; Unité Mixte de Recherche Scientifique Unité 693 (P.K., J.B., A.M., A.L., J.Y., P.C.), Faculté de Médecine Paris-Sud, Université Paris-Sud 11, Le Kremlin-Bicêtre F-94276, France; INSERM Unité 986 (A.L.) and INSERM Unité 693 (P.K., J.B., A.M., J.Y., P.C.), Le Kremlin-Bicêtre F-94276, France.

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http://dx.doi.org/10.1210/jc.2014-3670DOI Listing
March 2015

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

Stem Cell Reports 2014 Sep 7;3(3):432-43. Epub 2014 Aug 7.

INSERM U986, Hôpital Bicêtre, Le Kremlin Bicêtre 94276, France; Centre de Référence des Maladies Rares du Métabolisme Phospho-Calcique Hôpital Bicêtre, Le Kremlin Bicêtre 94276, France; Laboratoire de Biochimie Hormonale et Génétique, Hôpital Bichat Claude Bernard-AP-HP, Paris 75018, France. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2014.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266011PMC
September 2014

High frequency of X chromosome abnormalities in women with short stature and elevated liver enzymes.

J Clin Endocrinol Metab 2014 Aug 14;99(8):E1592-6. Epub 2014 Apr 14.

Unité d'Hépatologie (D.R.), Groupe Hospitalier Paris-Seine-St Denis, Hôpital Avicenne, Assistance Publique-Hôpitaux de Paris, 93000 Bobigny, France; Service d'Hépato-Gastroentérologie (V.B., M.B.), Service d'Anatomo-Pathologie (M.Z.), and Service d'Histologie-Embryologie et Cytogénétique, Biologie de la Reproduction (B.B.), Groupe Hospitalier Paris-Seine-St Denis, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, 93143 Bondy, France; Université Paris 13, Sorbonne Paris Cité (D.R., M.Z., M.B., B.B.), 93000 Bobigny, France; Département de Génétique (V.M.), Université Paris Descartes, INSERM Unité 781, Hopital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75014 Paris, France; Service d'Endocrinologie et Diabétologie de l'Enfant (A.L.), Groupe Hospitalier Paris Sud, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, and Université Paris Sud, INSERM Unité 936, 94270 Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1210/jc.2014-1037DOI Listing
August 2014

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

J Clin Endocrinol Metab 2014 Mar 1;99(3):E469-73. Epub 2014 Jan 1.

INSERM Unité 986 (A.-S.L., V.G., C.S., A.Lin.), Hôpital Bicêtre-Paris-Sud; Assistance Publique-Hôpitaux de Paris, Service d'Endocrinologie et Diabétologie de l'Enfant (L.E., A.Lin.), Hôpital Bicêtre-Paris-Sud Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore (L.E., C.S., A.Lin.); and Faculté de Médecine ( (B.F., J.B., A.G.-M., A.Lin.) and INSERM Unité Mixte de Recherche en Santé 693 (B.F., J.B., A.G.-M.), Université Paris Sud, 94270 Le Kremlin Bicêtre, France; Service de Pédiatrie (A.-S.L., A.Lie.) and Service de Génétique et Cytogénétique (C.M.), Centre Hospitalier Universitaire Limoges, 87000 Limoges, France; Service de Génétique Moléculaire (G.B., C.S.), Centre Hospitalier Universitaire Bichat, 75870 Paris, France; Service de Génétique Moléculaire, Pharmacogénétique, et Hormonologie (B.F., J.B., A.G.-M.), Hôpital Bicêtre-Paris-Sud, Assistance Publique-Hôpitaux de Paris, 94270 Paris, France; Service d'Endocrinologie et Métabolisme (S.H.), Centre Hospitalier Universitaire Nice, 06000 Nice, France; Service de Médecine Interne (D.V.), Centre Hospitalier Louis Mourier, 92700 Colombes, France; and Service de Pédiatrie (S.S.), Centre Hospitalier Universitaire Strasbourg, 67085 Strasbourg, France.

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http://dx.doi.org/10.1210/jc.2013-3136DOI Listing
March 2014

Therapeutic management of hypophosphatemic rickets from infancy to adulthood.

Endocr Connect 2014 14;3(1):R13-30. Epub 2014 Mar 14.

Service d'Endocrinologie et Diabétologie de l'Enfant Service de Pédiatrie générale - Consultation de rhumatologie Service d'Endocrinologie et des Maladies de la Reproduction Service d'ORL et chirurgie cervico-maxillo-facialeHôpital Bicêtre, APHP, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France Université Paris 11Faculté de Médecine, Hôpital Bicêtre, 70 rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, France Centre de Référence des Maladies Rares du Métabolisme du Calcium et du PhosphoreLe Kremlin-Bicêtre, France Service d'Odontologie-Maladies Rares Hôpital Bretonneau 2 rue Carpeaux75018 Paris, France Université Paris Descartes 12 Rue de l'École de Médecine75006 Paris, France Service Rhumatologie B Hôpital CochinAPHP, 27, rue du Faubourg Saint-Jacques, 75014 Paris, France Centre de Référence des Maladies Rares des Maladies Auto-Inflammatoires Rares de l'EnfantLe Kremlin Bicêtre, France Service d'explorations fonctionnelles rénales Service de Chirurgie infantile orthopédiqueHôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France Association de patients RVRH-XLH20 rue Merlin de Thionville, 92150 Suresnes, France.

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http://dx.doi.org/10.1530/EC-13-0103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959730PMC
March 2014

Primary hyperparathyroidism in pregnancy.

Endocrine 2013 Dec 14;44(3):591-7. Epub 2013 May 14.

Service d'Endocrinologie et des Maladies de la Reproduction, Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires Paris-Sud, Hôpital de Bicêtre, 94275, Le Kremlin Bicêtre, France.

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http://dx.doi.org/10.1007/s12020-013-9980-4DOI Listing
December 2013

From synthesis to replacement of parathyroid hormone.

Lancet Diabetes Endocrinol 2013 Dec 7;1(4):260-1. Epub 2013 Oct 7.

Paediatric Endocrinology and Diabetology, French National Reference Centre for Rare Disorders of the Mineral Metabolism, AP-HP Hôpital Bicêtre, le Kremlin-Bicêtre 94270, France.

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http://dx.doi.org/10.1016/S2213-8587(13)70145-1DOI Listing
December 2013

Clinical utility gene card for: pseudohypoparathyroidism.

Eur J Hum Genet 2013 Jun 12;21(6). Epub 2012 Sep 12.

Endocrinology Unit, Deparment of Clinical Sciences and Community Health, University of Milan, Fondazione IRCCS Ca' Granda Policlinico, Milan, Italy.

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http://dx.doi.org/10.1038/ejhg.2012.211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658187PMC
June 2013

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

J Pediatr 2012 May 2;160(5):849-53. Epub 2011 Dec 2.

Service d'Endocrinologie Pédiatrique, Hôpitaux Universitaires Paris Sud, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2011.10.023DOI Listing
May 2012

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

J Clin Endocrinol Metab 2011 Nov 24;96(11):3308-12. Epub 2011 Aug 24.

Service d'Endocrinologie Pédiatrique, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore, Université Paris-Sud 11, Hôpital Bicêtre, 78 rue du Général Leclerc, 94275 Le Kremlin-Bicêtre, Paris, France.

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http://dx.doi.org/10.1210/jc.2011-1359DOI Listing
November 2011

Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth.

J Clin Endocrinol Metab 2010 Nov 18;95(11):5011-7. Epub 2010 Aug 18.

Endocrinology Unit, Department of Medical Sciences, University of Milan, Fondazione Instituto di Ricovero e Cura a Carattere Scientifico Ca' Granda Policlinico, Milan, Italy.

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http://dx.doi.org/10.1210/jc.2010-1649DOI Listing
November 2010

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

J Clin Endocrinol Metab 2010 Aug 25;95(8):3768-70. Epub 2010 May 25.

Department of Pediatric Endocrinology and Diabetology, French Reference Center for Rare Diseases of the Calcium and Phosphate Metabolism, Hôpital Saint Vincent de Paul, Assistance Publique/Hôpitaux de Paris, Université Paris Descartes and Institut National de la Santé et de la Recherche Médicale, Unité 986, 82 avenue Denfert-Rochereau, 75014 Paris, France.

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http://dx.doi.org/10.1210/jc.2009-2814DOI Listing
August 2010

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

J Clin Endocrinol Metab 2010 Jun 31;95(6):2827-31. Epub 2010 Mar 31.

Department of Pediatric Endocrinology, Hôpital Saint Vincent de Paul, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine Paris Descartes, 75014 Paris, France.

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http://dx.doi.org/10.1210/jc.2009-2531DOI Listing
June 2010

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

J Clin Endocrinol Metab 2008 Oct 15;93(10):3971-80. Epub 2008 Jul 15.

Department of Pediatric Endocrinology, Hôpital Saint Vincent de Paul, 75014 Paris, France.

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http://dx.doi.org/10.1210/jc.2008-0238DOI Listing
October 2008

Gonadotrophic status in adolescents with pituitary stalk interruption syndrome.

Clin Endocrinol (Oxf) 2008 Jul 1;69(1):105-11. Epub 2008 Jul 1.

Pediatric Endocrinology, Children-Adult Endocrinology Department, Groupe hospitalier Cochin-Saint Vincent de Paul, Paris, France.

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http://dx.doi.org/10.1111/j.1365-2265.2007.03155.xDOI Listing
July 2008

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

J Clin Endocrinol Metab 2008 Mar 8;93(3):661-5. Epub 2008 Jan 8.

Pediatric Endocrinology and Institut National de la Santé et de la Recherche Médicale U561, Hôpital St-Vincent de Paul, 82 avenue Denfert-Rochereau, 75014 Paris V University, France.

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http://dx.doi.org/10.1210/jc.2007-0927DOI Listing
March 2008

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

Clin Endocrinol (Oxf) 2007 Dec 25;67(6):822-31. Epub 2007 Jul 25.

Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.

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http://dx.doi.org/10.1111/j.1365-2265.2007.02969.xDOI Listing
December 2007