Agnès Linglart

Affiliations

Department of Paediatric Endocrinology, Diabetology and Severe Obesity, Bicêtre Hospital, Paris, France.

Publications (99)

Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.

Clinical endocrinology

Avec: Céline Mouly , Rosa Vargas-Poussou , Anne Lienhardt , Caroline Silve , Marguerite Hureaux , Corinne Magdelaine , Alexandre Buffet , Solange Grunenwald , Jean-Marc Kuhn , Thierry Brue , Yves Reznik , Antoine Tabarin , Dominique Martin-Coignard , Jean-Philippe Haymann , Ivan Tack , Antoine Bennet , Philippe Caron , Agnès Linglart , Delphine Vezzosi , Auteur inconnu

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

European journal of endocrinology

Avec: Arrate Pereda , Francesca M Elli , Suzanne Thiele , Luisa de Sanctis , Anya Rothenbuhler , Patrick Hanna , Bruno Francou , Diana Alexandra Ertl , Guiomar Perez de Nanclares , Agnès Linglart , Giovanna Mantovani

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

Clinical endocrinology

Avec: Nicolas Jullien , Alexandru Saveanu , Julia Vergier , Emeline Marquant , Marie Helene Quentien , Frederic Castinetti , Noémie Galon-Faure , Raja Brauner , Zinet Marrakchi Turki , Maité Tauber , Mohamed El Kholy , Agnès Linglart , Patrice Rodien , Nora Soumeya Fedala , Ignacio Bergada , Christine Cortet-Rudelli , Michel Polak , Marc Nicolino , Chantal Stuckens , Anne Barlier , Thierry Brue , Rachel Reynaud , Auteur inconnu

Oral health-related quality of life in patients with X-linked hypophosphatemia: a qualitative exploration.

Endocrine connections

Avec: Caroline Nguyen , Elisabeth Celestin , Delphine Chambolle , Agnès Linglart , Martin Biosse Duplan , Catherine Chaussain , Lisa Friedlander

Cholecalciferol (vitamin D3) must not be considered as an endocrine disruptor

Geriatrie et psychologie neuropsychiatrie du vieillissement

Avec: Jean-Claude Souberbielle , Justine Bacchetta , Philippe Chanson , Bernard Cortet , Marie Courbebaisse , Jean-Michel Lecerf , Agnès Linglart , Cédric Annweiler

Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience.

Frontiers in pediatrics

Avec: Julie Bernardor , Sacha Flammier , Jean-Pierre Salles , Cyril Amouroux , Mireille Castanet , Anne Lienhardt , Laetitia Martinerie , Ivan Damgov , Agnès Linglart , Justine Bacchetta

Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.

The Journal of clinical endocrinology and metabolism

Avec: Marie-Noëlle Méaux , Jérôme Harambat , Anya Rothenbuhler , Juliane Léger , Peter Kamenicky , Sylvie Soskin , Olivia Boyer , Emese Boros , Pascal D'Anella , Brigitte Mignot , Maite Gebhart , Philippe Vic , Nicolas Richard , Béatrice Thivichon-Prince , Bruno Francou , Agnès Linglart , Justine Bacchetta , Arnaud Molin

The Global ALPL gene variant classification project: Dedicated to deciphering variants.

Bone

Avec: Mariam R Farman , Catherine Rehder , Theodora Malli , Cheryl Rockman-Greenberg , Kathryn Dahir , Gabriel Ángel Martos-Moreno , Agnès Linglart , Keiichi Ozono , Lothar Seefried , Guillermo Del Angel , Gerald Webersinke , Francesca Barbazza , Lisa K John , Sewmi M A Delana Mudiyanselage , Florian Högler , Erica Burner Nading , Erin Huggins , Eric T Rush , Ahmed El-Gazzar , Priya S Kishnani , Wolfgang Högler

A patient-centred and multi-stakeholder co-designed observational prospective study protocol: Example of the adolescent experience of treatment for X-linked hypophosphataemia (XLH).

PloS one

Avec: Vrinda Saraff , Annemieke M Boot , Agnès Linglart , Oliver Semler , Pol Harvengt , Angela Williams , Karen M A Bailey , Fiona Glen , Elin Haf Davies , Sue Wood , Stephen Greentree , Angela J Rylands

Developments in the Management of Growth Hormone Deficiency: Clinical Utility of Somapacitan.

Drug design, development and therapy

Avec: Bradley S Miller , Jo Blair , Reiko Horikawa , Agnès Linglart , Kevin C J Yuen

Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1.

Journal of clinical immunology

Avec: Romain Lévy , Agathe Escudier , Paul Bastard , Coralie Briand , Laura Polivka , Athanasia Stoupa , Cécile Talbotec , Anya Rothenbuhler , Marina Charbit , Dominique Debray , Christine Bodemer , Jean-Laurent Casanova , Agnès Linglart , Bénédicte Neven

Reference values for serum calcium in neonates should be established in a population of vitamin D-replete subjects.

The Journal of clinical endocrinology and metabolism

Avec: Lucie Levaillant , Agnès Linglart , Vincent Gajdos , Alexandra Benachi , Jean-Claude Souberbielle

Improved Oral Health in Adults with X-Linked Hypophosphatemia Treated with Burosumab.

The Journal of clinical endocrinology and metabolism

Avec: Agathe Hervé , Margaux Gadion , Julia Herrou , Mathieu Izart , Agnès Linglart , Martine Cohen-Solal , Anne-Lise Lecoq , Peter Kamenicky , Karine Briot , Catherine Chaussain , Martin Biosse Duplan

X-linked hypophosphataemia.

Lancet (London, England)

Avec: Peter Kamenický , Karine Briot , Craig F Munns , Agnès Linglart

Metabolically healthy obesity in adults with X-linked hypophosphatemia.

European journal of endocrinology

Avec: Anne-Lise Lecoq , Katharina Schilbach , Laurence Rocher , Séverine Trabado , Karine Briot , Julia Herrou , Aurélie Forbes , Anthony Garnier , Marie Piketty , Martin Bidlingmaier , Anya Rothenbuhler , Agnès Linglart , Claire Carette , Philippe Chaumet-Riffaud , Peter Kamenický

Prevalence of hearing loss in pseudohypoparathyroidism.

Orphanet journal of rare diseases

Avec: Cassandre Djian , Jugurtha Berkenou , Anya Rothenbuhler , Jérémie Botton , Agnès Linglart , Jérôme Nevoux

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

Endocrine connections

Avec: Volha V Zhukouskaya , Anya Rothenbuhler , Annamaria Colao , Carolina Di Somma , Peter Kamenický , Séverine Trabado , Dominique Prié , Christelle Audrain , Anna Barosi , Christèle Kyheng , Anne-Sophie Lambert , Agnès Linglart

Transcriptional profiling at the

Science advances

Avec: Walid Abi Habib , Frédéric Brioude , Salah Azzi , Sylvie Rossignol , Agnès Linglart , Marie-Laure Sobrier , Éloïse Giabicani , Virginie Steunou , Madeleine D Harbison , Yves Le Bouc , Irène Netchine

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

BMC musculoskeletal disorders

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

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

Hormone research in paediatrics

Avec: Gerhard Binder , Thomas Reinehr , Lourdes Ibáñez , Susanne Thiele , Agnès Linglart , Joachim Woelfle , Paul Saenger , Markus Bettendorf , Agnieszka Zachurzok , Bettina Gohlke , Tabitha Randell , Berthold P Hauffa , Hedi L Claahsen van der Grinten , Paul-Martin Holterhus , Anders Juul , Roland Pfäffle , Stefano Cianfarani

The current landscape of European registries for rare endocrine conditions.

European journal of endocrinology

Avec: S R Ali , J Bryce , M Cools , M Korbonits , J G Beun , D Taruscio , T Danne , M Dattani , O M Dekkers , A Linglart , I Netchine , A Nordenstrom , A Patocs , L Persani , N Reisch , A Smyth , Z Sumnik , W E Visser , O Hiort , A M Pereira , S F Ahmed

Orthopedic and neurosurgical care of X-linked hypophosphatemia.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Avec: Federico Di Rocco , Anya Rothenbuhler , Catherine Adamsbaum , Justine Bacchetta , Zagorka Pejin , Georges Finidori , Stéphanie Pannier , Agnès Linglart , Philippe Wicart

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

Hormone research in paediatrics

Avec: Claire Flot , Valérie Porquet-Bordes , Justine Bacchetta , Anya Rothenbuhler , Anne Lienhardt-Roussie , Eloise Giabicani , Iva Gueorguieva , Caroline Storey , Agnès Linglart , Jean-Pierre Salles , Thomas Edouard

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

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Avec: T Edouard , S Guillaume-Czitrom , J Bacchetta , I Sermet-Gaudelus , E Dugelay , C Martinez-Vinson , J P Salles , A Linglart

Dental pulp stem cells as a promising model to study imprinting diseases.

International journal of oral science

Avec: Eloïse Giabicani , Aurélie Pham , Céline Sélénou , Marie-Laure Sobrier , Caroline Andrique , Julie Lesieur , Agnès Linglart , Anne Poliard , Catherine Chaussain , Irène Netchine

Skeletal and extraskeletal disorders of biomineralization.

Nature reviews. Endocrinology

Avec: Michael T Collins , Gemma Marcucci , Hans-Joachim Anders , Giovanni Beltrami , Jane A Cauley , Peter R Ebeling , Rajiv Kumar , Agnès Linglart , Luca Sangiorgi , Dwight A Towler , Ria Weston , Michael P Whyte , Maria Luisa Brandi , Bart Clarke , Rajesh V Thakker

X-linked hypophosphatemia, obesity and arterial hypertension: data from the XLH21 study.

Pediatric nephrology (Berlin, Germany)

Avec: Louisa Bloudeau , Agnès Linglart , Sacha Flammier , Aurélie Portefaix , Aurélia Bertholet-Thomas , Sanaa Eddiry , Anna Barosi , Jean-Pierre Salles , Valérie Porquet-Bordes , Anya Rothenbuhler , Christelle Roger , Justine Bacchetta

Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination.

The Journal of experimental medicine

Avec: Aurélien Sokal , Paul Bastard , Pascal Chappert , Giovanna Barba-Spaeth , Slim Fourati , Alexis Vanderberghe , Pauline Lagouge-Roussey , Isabelle Meyts , Adrian Gervais , Magali Bouvier-Alias , Imane Azzaoui , Ignacio Fernández , Andréa de la Selle , Qian Zhang , Lucy Bizien , Isabelle Pellier , Agnès Linglart , Anya Rothenbuhler , Estelle Marcoux , Raphael Anxionnat , Nathalie Cheikh , Juliane Léger , Blanca Amador-Borrero , Fanny Fouyssac , Vanessa Menut , Jean-Christophe Goffard , Caroline Storey , Caroline Demily , Coralie Mallebranche , Jesus Troya , Aurora Pujol , Marie Zins , Pierre Tiberghien , Paul E Gray , Peter McNaughton , Anna Sullivan , Jane Peake , Romain Levy , Laetitia Languille , Carlos Rodiguez-Gallego , Bertrand Boisson , Sébastien Gallien , Bénédicte Neven , Marc Michel , Bertrand Godeau , Laurent Abel , Felix A Rey , Jean-Claude Weill , Claude-Agnès Reynaud , Stuart G Tangye , Jean-Laurent Casanova , Matthieu Mahévas

Combined gait analysis and radiologic examination in children with X-linked hypophosphatemia.

Clinical biomechanics (Bristol, Avon)

Avec: Aurore Bonnet-Lebrun , Agnès Linglart , Marine De Tienda , Virginie Nguyen Khac , Younes Ouchrif , Jugurtha Berkenou , Hélène Pillet , Ayman Assi , Philippe Wicart , Wafa Skalli

The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA

Avec: Maria Luisa Brandi , Aliya A Khan , Eric T Rush , Dalal S Ali , Hatim Al-Alwani , Khulod Almonaei , Farah Alsarraf , Severine Bacrot , Kathryn M Dahir , Karel Dandurand , Chad Deal , Serge Livio Ferrari , Francesca Giusti , Gordon Guyatt , Erin Hatcher , Steven W Ing , Muhammad Kassim Javaid , Sarah Khan , Roland Kocijan , E Michael Lewiecki , Agnes Linglart , Iman M'Hiri , Francesca Marini , Mark E Nunes , Cheryl Rockman-Greenberg , Lothar Seefried , Jill H Simmons , Susan R Starling , Leanne M Ward , Liang Yao , Romina Brignardello-Petersen , Christian Roux

MRI quantitative muscle characterization in children with X-linked hypophosphatemia.

Orthopaedics & traumatology, surgery & research : OTSR

Avec: Marine de Tienda , Aurore Bonnet-Lebrun , Inès Mannes , Virginie Nguyen-Khac , Younès Ouchrif , Ayman Assi , Abir Massaad , Agnès Linglart , Catherine Adamsbaum , Wafa Skalli , Philippe Wicart

Somapacitan in Children Born SGA: 52-week Efficacy, Safety, and IGF-I Response Results from the Phase 2 REAL5 Study.

The Journal of clinical endocrinology and metabolism

Avec: Anders Juul , Philippe Backeljauw , Michael Højby , Jan Frystyk , Masanobu Kawai , Rasmus Juul Kildemoes , Anders Krogh Lemminger , Agnès Linglart , Nehama Zuckerman-Levin , Reiko Horikawa

New French height velocity growth charts: An innovative big-data approach based on routine measurements.

Acta paediatrica (Oslo, Norway : 1992)

Avec: Pauline Scherdel , Marion Taine , Manon Bergerat , Andreas Werner , Julien Le Breton , Michel Polak , Agnès Linglart , Rachel Reynaud , Bruno Frandji , Jean-Claude Carel , Raja Brauner , Martin Chalumeau , Barbara Heude

Autosomal recessive hypophosphatemic rickets type 2 due to ENPP1 deficiency (ARHR2).

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Avec: Thomas Edouard , Agnès Linglart

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

Frontiers in cell and developmental biology

Avec: Carole-Anne Faraji-Bellée , Axelle Cauliez , Benjamin Salmon , Olivier Fogel , Volha Zhukouskaya , Aurélie Benoit , Thorsten Schinke , Christian Roux , Agnès Linglart , Corinne Miceli-Richard , Catherine Chaussain , Karine Briot , Claire Bardet

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

Nature communications

Avec: Daniela Rovito , Anna Y Belorusova , Sandra Chalhoub , Anna-Isavella Rerra , Elvire Guiot , Arnaud Molin , Agnès Linglart , Natacha Rochel , Gilles Laverny , Daniel Metzger

Perception of medical education by learners and teachers during the COVID-19 pandemic: a cross-sectional survey of online teaching.

Medical education online

Avec: Emmanuelle Motte-Signoret , Antoine Labbé , Grégoire Benoist , Agnès Linglart , Vincent Gajdos , Alexandre Lapillonne

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

European journal of orthodontics

Avec: Elvire Le Norcy , Camille Reggio-Paquet , Marc de Kerdanet , Brigitte Mignot , Anya Rothenbuhler , Catherine Chaussain , Agnès Linglart

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

Clinical epigenetics

Avec: F M Elli , L deSanctis , M A Maffini , P Bordogna , D Tessaris , A Pirelli , M Arosio , A Linglart , G Mantovani

X-linked hypophosphatemia and burosumab: Practical clinical points from the French experience.

Joint bone spine

Avec: Justine Bacchetta , Anya Rothenbuhler , Iva Gueorguieva , Peter Kamenicky , Jean-Pierre Salles , Karine Briot , Agnès Linglart

Determinants of Final Height in Patients Born Small for Gestational Age Treated with Recombinant Growth Hormone.

Hormone research in paediatrics

Avec: Elodie Adler , Anne-Sophie Lambert , Claire Bouvattier , Cécile Thomas-Teinturier , Anya Rothenbuhler , Paul de Boissieu , Agnès Linglart

Contribution of imaging to the diagnosis and follow up of X-linked hypophosphatemia.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Avec: Catherine Adamsbaum , Jean-Denis Laredo , Karine Briot , Agnès Linglart

Magnetic resonance imaging is a valuable tool to evaluate the therapeutic efficacy of burosumab in children with X-linked hypophosphatemia.

European journal of endocrinology

Avec: Volha V Zhukouskaya , Inès Mannes , Catherine Chaussain , Peter Kamenický , Christelle Audrain , Anne-Sophie Lambert , Jérôme Nevoux , Philippe Wicart , Karine Briot , Federico Di Rocco , Séverine Trabado , Dominique Prié , Carolina Di Somma , Annamaria Colao , Catherine Adamsbaum , Anya Rothenbuhler , Agnès Linglart

Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia.

The Journal of clinical endocrinology and metabolism

Avec: Agnès Linglart , Erik A Imel , Michael P Whyte , Anthony A Portale , Wolfgang Högler , Annemieke M Boot , Raja Padidela , William Van't Hoff , Gary S Gottesman , Angel Chen , Alison Skrinar , Mary Scott Roberts , Thomas O Carpenter

European Expert Consensus on Practical Management of Specific Aspects of Parathyroid Disorders in Adults and in Pregnancy: Recommendations of the ESE Educational Program of Parathyroid Disorders.

European journal of endocrinology

Avec: Jens Bollerslev , Lars Rejnmark , Alexandra Zahn , Ansgar Heck , N M Appelman-Dijkstra , Luis Cardoso , Fadil M Hannan , Filomena Cetani , Tanja Sikjær , Anna Maria Formenti , Sigridur Björnsdottir , Camilla Schalin-Jantti , Zhanna Belaya , Fraser Wilson Gibb , Bruno Lapauw , Karin Amrein , Corinna Wicke , Corinna Grasemann , Michael Krebs , Eeva M Ryhänen , Ozer Makay , Salvatore Minisola , Sebastien Gaujoux , Jean-Philippe Bertocchio , Zaki K Hassan-Smith , Agnès Linglart , Elizabeth M Winter , Martina Kollmann , Hans-Georg Zmierczak , Elena Tsourdi , Stefan Pilz , Heide Siggelkow , Neil J Gittoes , Claudio Marcocci , Peter Kamenicky , Auteur inconnu

Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia.

Nature reviews. Endocrinology

Avec: Andrea Trombetti , Nasser Al-Daghri , Maria Luisa Brandi , Jorge B Cannata-Andía , Etienne Cavalier , Manju Chandran , Catherine Chaussain , Lucia Cipullo , Cyrus Cooper , Dieter Haffner , Pol Harvengt , Nicholas C Harvey , Muhammad Kassim Javaid , Famida Jiwa , John A Kanis , Andrea Laslop , Michaël R Laurent , Agnès Linglart , Andréa Marques , Gabriel T Mindler , Salvatore Minisola , María Concepción Prieto Yerro , Mario Miguel Rosa , Lothar Seefried , Mila Vlaskovska , María Belén Zanchetta , René Rizzoli

New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.

American journal of medical genetics. Part A

Avec: Priya S Kishnani , Lothar Seefried , Kathryn M Dahir , Gabriel Ángel Martos-Moreno , Agnès Linglart , Anna Petryk , William R Mowrey , Shona Fang , Keiichi Ozono , Wolfgang Högler , Cheryl Rockman-Greenberg

Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort.

The Journal of clinical endocrinology and metabolism

Avec: Mohamad Maghnie , Michael B Ranke , Mitchell E Geffner , Elpis Vlachopapadopoulou , Lourdes Ibáñez , Martin Carlsson , Wayne Cutfield , Raoul Rooman , Roy Gomez , Michael P Wajnrajch , Agnès Linglart , Renata Stawerska , Peter E Clayton , Feyza Darendeliler , Anita C S Hokken-Koelega , Reiko Horikawa , Toshiaki Tanaka , Helmuth-Günther Dörr , Kerstin Albertsson-Wikland , Michel Polak , Adda Grimberg

Growth hormone treatment improves final height in children with X-linked hypophosphatemia.

Orphanet journal of rare diseases

Avec: Julia André , Volha V Zhukouskaya , Anne-Sophie Lambert , Jean-Pierre Salles , Brigitte Mignot , Claire Bardet , Catherine Chaussain , Anya Rothenbuhler , Agnès Linglart

Burosumab and Dental Abscesses in Children With X-Linked Hypophosphatemia.

JBMR plus

Avec: Margaux Gadion , Agathe Hervé , Julia Herrou , Anya Rothenbuhler , Violaine Smail-Faugeron , Frédéric Courson , Agnès Linglart , Catherine Chaussain , Martin Biosse Duplan

Changes in adipose bone marrow and bone morphology in X-linked hypophosphatemic rickets.

Orthopaedics & traumatology, surgery & research : OTSR

Avec: Virginie Nguyen-Khac , Aurore Bonnet-Lebrun , Wafa Skalli , Catherine Adamsbaum , Agnès Linglart , Philippe Wicart

Growth and disease burden in children with hypophosphatasia.

Endocrine connections

Avec: Wolfgang Högler , Agnès Linglart , Anna Petryk , Priya S Kishnani , Lothar Seefried , Shona Fang , Cheryl Rockman-Greenberg , Keiichi Ozono , Kathryn Dahir , Gabriel Ángel Martos-Moreno

Neonatal and Early Infancy Features of Patients With Inactivating PTH/PTHrP Signaling Disorders/Pseudohypoparathyroidism.

The Journal of clinical endocrinology and metabolism

Avec: Giulia Del Sindaco , Jugurtha Berkenou , Angela Pagnano , Anya Rothenbuhler , Maura Arosio , Giovanna Mantovani , Agnès Linglart

Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone.

Proceedings of the National Academy of Sciences of the United States of America

Avec: Patrick Hanna , Ashok Khatri , Shawn Choi , Severine Brabant , Matti L Gild , Marie L Piketty , Bruno Francou , Dominique Prié , John T Potts , Roderick J Clifton-Bligh , Agnès Linglart , Thomas J Gardella , Harald Jüppner

Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countries.

Frontiers in endocrinology

Avec: M Zulf Mughal , Giampiero I Baroncelli , Carmen de Lucas-Collantes , Agnès Linglart , Andrea Magnolato , Adalbert Raimann , Fernando Santos , Dirk Schnabel , Nick Shaw , Ola Nilsson

Effectiveness of topical sodium thiosulfate for ectopic calcifications and ossifications. Results of the CATSS-O study.

Seminars in arthritis and rheumatism

Avec: Alan Gauffenic , Voa Ratsimbazafy , Agnès Ostertag , Agnès Linglart , Emmanuelle Bourrat , Charles Leroy , Frédéric Lioté , Augustin Latourte , Pascal Richette , Hang Korng Ea , Vincent Guigonis

Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA

Avec: Aliya A Khan , Maria Luisa Brandi , Eric T Rush , Dalal S Ali , Hatim Al-Alwani , Khulod Almonaei , Farah Alsarraf , Severine Bacrot , Kathryn M Dahir , Karel Dandurand , Chad Deal , Serge Livio Ferrari , Francesca Giusti , Gordon Guyatt , Erin Hatcher , Steven W Ing , Muhammad Kassim Javaid , Sarah Khan , Roland Kocijan , Agnes Linglart , Iman M'Hiri , Francesca Marini , Mark E Nunes , Cheryl Rockman-Greenberg , Christian Roux , Lothar Seefried , Jill H Simmons , Susan R Starling , Leanne M Ward , Liang Yao , Romina Brignardello-Petersen , E Michael Lewiecki

Serum calcium normal range in 1000 term newborns.

Hormone research in paediatrics

Avec: Lucie Levaillant , Agnès Linglart , Emmanuelle Letamendia , Claire Boithias , Samra Ouaras-Lounis , Patrice Thérond , Anne-Sophie Lambert , Mathieu Levaillant , Jean-Claude Souberbielle , Alexandra Benachi , Vincent Gajdos

Lessons from prospective longitudinal follow-up of a French APECED cohort.

The Journal of clinical endocrinology and metabolism

Avec: Linda Humbert , Emmanuelle Proust-Lemoine , Sylvain Dubucquoi , Elisabeth Helen Kemp , Pascale Saugier-Veber , Nicole Fabien , Isabelle Raymond-Top , Catherine Cardot-Bauters , Jean-Claude Carel , Maryse Cartigny , Olivier Chabre , Philippe Chanson , Brigitte Delemer , Christine Do Cao , Laurence Guignat , Jean Emmanuel Kahn , Veronique Kerlan , Herve Lefebvre , Agnès Linglart , Roberto Mallone , Rachel Reynaud , Boualem Sendid , Pierre-François Souchon , Philippe Touraine , Jean-Louis Wémeau , Marie-Christine Vantyghem

Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry.

Orphanet journal of rare diseases

Avec: Priya S Kishnani , Gabriel Ángel Martos-Moreno , Agnès Linglart , Anna Petryk , Andrew Messali , Shona Fang , Cheryl Rockman-Greenberg , Keiichi Ozono , Wolfgang Högler , Lothar Seefried , Kathryn M Dahir

Diagnosis and management of pituitary adenomas in children and adolescents.

European journal of endocrinology

Avec: Dominique Maiter , Philippe Chanson , Stefan Matei Constantinescu , Agnès Linglart

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

Hormone research in paediatrics

Avec: Giovanna Mantovani , Murat Bastepe , David Monk , Luisa de Sanctis , Susanne Thiele , S Faisal Ahmed , Roberto Bufo , Timothée Choplin , Gianpaolo De Filippo , Guillemette Devernois , Thomas Eggermann , Francesca M Elli , Aurora Garcia Ramirez , Emily L Germain-Lee , Lionel Groussin , Neveen A T Hamdy , Patrick Hanna , Olaf Hiort , Harald Jüppner , Peter Kamenický , Nina Knight , Elvire Le Norcy , Beatriz Lecumberri , Michael A Levine , Outi Mäkitie , Regina Martin , Gabriel Ángel Martos-Moreno , Manasori Minagawa , Philip Murray , Arrate Pereda , Robert Pignolo , Lars Rejnmark , Rebeca Rodado , Anya Rothenbuhler , Vrinda Saraff , Ashley H Shoemaker , Eileen M Shore , Caroline Silve , Serap Turan , Philip Woods , M Carola Zillikens , Guiomar Perez de Nanclares , Agnès Linglart

Management of X-linked hypophosphatemia in adults.

Metabolism: clinical and experimental

Avec: Anne-Lise Lecoq , Maria Luisa Brandi , Agnès Linglart , Peter Kamenický

Hyperparathyroidism in Patients With X-Linked Hypophosphatemia.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Avec: Anne-Lise Lecoq , Philippe Chaumet-Riffaud , Anne Blanchard , Margot Dupeux , Anya Rothenbuhler , Benoit Lambert , Emmanuel Durand , Erika Boros , Karine Briot , Caroline Silve , Bruno Francou , Marie Piketty , Philippe Chanson , Sylvie Brailly-Tabard , Agnès Linglart , Peter Kamenický

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

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Avec: Anya Rothenbuhler , Nathalie Fadel , Yahya Debza , Justine Bacchetta , Mamadou Tidiane Diallo , Catherine Adamsbaum , Agnès Linglart , Federico Di Rocco

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

Nature reviews. Nephrology

Avec: Dieter Haffner , Francesco Emma , Deborah M Eastwood , Martin Biosse Duplan , Justine Bacchetta , Dirk Schnabel , Philippe Wicart , Detlef Bockenhauer , Fernando Santos , Elena Levtchenko , Pol Harvengt , Martha Kirchhoff , Federico Di Rocco , Catherine Chaussain , Maria Louisa Brandi , Lars Savendahl , Karine Briot , Peter Kamenicky , Lars Rejnmark , Agnès Linglart

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Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1.

The Journal of experimental medicine

Avec: Paul Bastard , Elizaveta Orlova , Leila Sozaeva , Romain Lévy , Alyssa James , Monica M Schmitt , Sebastian Ochoa , Maria Kareva , Yulia Rodina , Adrian Gervais , Tom Le Voyer , Jérémie Rosain , Quentin Philippot , Anna-Lena Neehus , Elana Shaw , Mélanie Migaud , Lucy Bizien , Olov Ekwall , Stefan Berg , Guglielmo Beccuti , Lucia Ghizzoni , Gérard Thiriez , Arthur Pavot , Cécile Goujard , Marie-Louise Frémond , Edwin Carter , Anya Rothenbuhler , Agnès Linglart , Brigite Mignot , Aurélie Comte , Nathalie Cheikh , Olivier Hermine , Lars Breivik , Eystein S Husebye , Sébastien Humbert , Pierre Rohrlich , Alain Coaquette , Fanny Vuoto , Karine Faure , Nizar Mahlaoui , Primož Kotnik , Tadej Battelino , Katarina Trebušak Podkrajšek , Kai Kisand , Elise M N Ferré , Thomas DiMaggio , Lindsey B Rosen , Peter D Burbelo , Martin McIntyre , Nelli Y Kann , Anna Shcherbina , Maria Pavlova , Anna Kolodkina , Steven M Holland , Shen-Ying Zhang , Yanick J Crow , Luigi D Notarangelo , Helen C Su , Laurent Abel , Mark S Anderson , Emmanuelle Jouanguy , Bénédicte Neven , Anne Puel , Jean-Laurent Casanova , Michail S Lionakis

Avec: Yasmine El Allali , Coralie Hermetet , Justine Bacchetta , Cyril Amouroux , Anya Rothenbuhler , Valérie Porquet-Bordes , Marie-Alexandrine Champigny , Sabine Baron , Pascal Barat , Hélène Bony-Trifunovic , Karine Bourdet , Kanetee Busiah , Maryse Cartigny-Maciejewski , Florence Compain , Régis Coutant , Jessica Amsellem-Jager , Marc De Kerdanet , Nathalie Magontier , Brigitte Mignot , Odile Richard , Sylvie Rossignol , Sylvie Soskin , Aurélie Berot , Catherine Naud-Saudreau , Jean-Pierre Salles , Agnès Linglart , Thomas Edouard , Anne Lienhardt-Roussie

Mineral and Bone Consequences of High Dose Denosumab Therapy to Treat an Aneurysmal Bone Cyst, a Child Case Report.

Frontiers in endocrinology

Avec: Giulia Del Sindaco , Pablo Berlanga , Laurence Brugières , Eric Thebault , Giovanna Mantovani , Philippe Wicart , Agnès Linglart

Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) on diagnosis of Cushing's syndrome.

Annales d'endocrinologie

Avec: Antoine Tabarin , Guillaume Assié , Pascal Barat , Fidéline Bonnet , Jean François Bonneville , Françoise Borson-Chazot , Jérôme Bouligand , Anne Boulin , Thierry Brue , Philippe Caron , Frédéric Castinetti , Olivier Chabre , Philippe Chanson , Jean Benoit Corcuff , Christine Cortet , Régis Coutant , Anthony Dohan , Delphine Drui , Stéphanie Espiard , Delphine Gaye , Solenge Grunenwald , Laurence Guignat , Elif Hindie , Frédéric Illouz , Peter Kamenicky , Hervé Lefebvre , Agnès Linglart , Laetitia Martinerie , Marie Odile North , Marie Laure Raffin-Samson , Isabelle Raingeard , Gérald Raverot , Véronique Raverot , Yves Reznik , David Taieb , Delphine Vezzosi , Jacques Young , Jérôme Bertherat

Cow's milk-based infant formula supplements in breastfed infants and primary prevention of cow's milk allergy: A commentary of the Committee on Nutrition of the French Society of Pediatrics.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Avec: Christophe Dupont , Alain Bocquet , Sandra Brancato , Martin Chalumeau , Dominique Darmaun , Arnaud de Luca , François Feillet , Marie-Laure Frelut , Dominique Guimber , Alexandre Lapillonne , Agnès Linglart , Noel Peretti , Jean-Christophe Roze , Umberto Siméoni , Dominique Turck , Jean-Pierre Chouraqui , Auteur inconnu

Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort study.

European journal of endocrinology

Avec: Emese Boros , Diana-Alexandra Ertl , Jugurtha Berkenou , Christelle Audrain , Anne Lise Lecoq , Peter Kamenicky , Karine Briot , Cyril Amouroux , Volha Zhukouskaya , Iva Gueorguieva , Brigitte Mignot , Barbara Girerd , Valerie Porquet Bordes , Jean Pierre Salles , Thomas Edouard , Régis Coutant , Justine Bacchetta , Agnès Linglart , Anya Rothenbuhler

Clinical Profiles of Children with Hypophosphatasia Prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry.

Hormone research in paediatrics

Avec: Gabriel Ángel Martos-Moreno , Cheryl Rockman-Greenberg , Keiichi Ozono , Anna Petryk , Priya S Kishnani , Kathryn M Dahir , Lothar Seefried , Shona Fang , Wolfgang Högler , Agnès Linglart

Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.

European journal of endocrinology

Avec: Diana-Alexandra Ertl , Guiomar Perez de Nanclares , Harald Jüppner , Patrick Hanna , Angela Pagnano , Arrate Pereda , Anya Rothenbuhler , Giulia Del Sindaco , Pilar Ruiz-Cuevas , Christelle Audrain , Arancha Escribano , Jugurtha Berkenou , Andreas Gleiss , Giovanna Mantovani , Agnès Linglart

Avec: Christopher J Child , Alan G Zimmermann , George P Chrousos , Elisabeth Cummings , Cheri L Deal , Tomonobu Hasegawa , Nan Jia , Sarah Lawrence , Agnès Linglart , Sandro Loche , Mohamad Maghnie , Jacobo Pérez Sánchez , Michel Polak , Barbara Predieri , Annette Richter-Unruh , Ron G Rosenfeld , Diego Yeste , Tohru Yorifuji , Werner F Blum

Avec: Julia Herrou , Axelle Salcion Picaud , Louis Lassalle , Laurence Pacot , Catherine Chaussain , Valérie Merzoug , Agathe Hervé , Margaux Gadion , Anya Rothenbuhler , Peter Kamenický , Christian Roux , Agnès Linglart , Martin Biosse Duplan , Karine Briot

Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory.

Clinical chemistry

Avec: Kenneth Chappell , Bruno Francou , Christophe Habib , Thomas Huby , Marco Leoni , Aurélien Cottin , Florian Nadal , Eric Adnet , Eric Paoli , Christophe Oliveira , Céline Verstuyft , Anne Davit-Spraul , Pauline Gaignard , Elise Lebigot , Jean-Charles Duclos-Vallee , Jacques Young , Peter Kamenicky , David Adams , Andoni Echaniz-Laguna , Emmanuel Gonzales , Claire Bouvattier , Agnes Linglart , Véronique Picard , Emilie Bergoin , Emmanuel Jacquemin , Anne Guiochon-Mantel , Alexis Proust , Jérôme Bouligand

A Novel Familial PHP1B Variant With Incomplete Loss of Methylation at GNAS-A/B and Enhanced Methylation at GNAS-AS2.

The Journal of clinical endocrinology and metabolism

Avec: Patrick Hanna , Bruno Francou , Brigitte Delemer , Harald Jüppner , Agnès Linglart

Practice patterns for chronic hypoparathyroidism: data from patients and physicians in France.

Endocrine connections

Avec: Jean-Philippe Bertocchio , Natalie Grosset , Lionel Groussin , Peter Kamenický , Fabrice Larceneux , Anne Lienhardt-Roussie , Agnès Linglart , Gérard Maruani , Eric Mirallie , François Pattou , Riyad N H Seervai , Coralie Sido , Caroline Silve , Aurélie Vilfaillot , Antoine Tabarin , Marie-Christine Vantyghem , Pascal Houillier

Orthodontic treatment in children and adolescent patients with X-linked hypophosphatemia: A case-control study.

Orthodontics & craniofacial research

Avec: Yann Janssens , Martin Biosse Duplan , Agnès Linglart , Anya Rothenbuhler , Catherine Chaussain , Elvire Le Norcy

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