作者：A. Usardi ; ^{alessia.usardi@aphp.fr" class="auth_mail" title="E-mail the corresponding author} ; A. Mamoune ; A. Rothenbuhler (Dr) ; A. Linglart (Pr)

刊名：Annales d'Endocrinologie

出版年：2016

作者：P. Hanna^a ; ^{patrick.hanna@inserm.fr" class="auth_mail" title="E-mail the corresponding author} ; G. Mantovani^b (Dr) ; V. Grybek^a (Dr) ; H. Jueppner^c (Pr) ; A.C. Brehin^d (Dr) ; M.L. Kottler^e (Dr) ; A. Rothenbuhler^f (Dr) ; G. Perez De Nanclares^g (Dr) ; A. Linglart^h (Pr)

刊名：Annales d'Endocrinologie

出版年：2016

作者：Agn&egrave ; s Taillandier^a ; ^{ataillandier@ch-versailles.fr" class="auth_mail" title="E-mail the corresponding author} ; Christelle Domingues^a ; ^{christelle.adam1@voila.fr" class="auth_mail" title="E-mail the corresponding author} ; Cl&eacute ; mence De Cazanove^a ; ^{c.de.casanove@outlook.fr" class="auth_mail" title="E-mail the corresponding author} ; Val&eacute ; rie Porquet-Bordes^b ; ^{porquet-bordes.v@chu-toulouse.fr" class="auth_mail" title="E-mail the corresponding author} ; Sophie Monnot^c ; ^{sophie.monnot@nck.aphp.fr" class="auth_mail" title="E-mail the corresponding author} ; Tina Kiffer-Moreira^d ; ^{kiffer-moreira@sanfordburnham.org" class="auth_mail" title="E-mail the corresponding author} ; Agn&egrave ; s Rothenbuhler^e ; ^f ; ^{anya.rothenbuhler@bct.aphp.fr" class="auth_mail" title="E-mail the corresponding author} ; Pascal Guggenbuhl^g ; ^{pascal.guggenbuhl@chu-rennes.fr" class="auth_mail" title="E-mail the corresponding author} ; Catherine Cormier^h ; ^{Catherine.Cormier@cch.ap-hop-paris.fr" class="auth_mail" title="E-mail the corresponding author} ; Genevi&egrave ; ve Baujatⁱ ; ^{genevieve.baujat@nck.aphp.fr" class="auth_mail" title="E-mail the corresponding author} ; Franç ; oise Debiais^j ; ^{francoise.debiais@chu-poitiers.fr" class="auth_mail" title="E-mail the corresponding author} ; Yline Capri^k ; ^{yline.capri@aphp.fr" class="auth_mail" title="E-mail the corresponding author} ; Martine Cohen-Solal^l ; ^{martine.cohen-solal@inserm.fr" class="auth_mail" title="E-mail the corresponding author} ; Philippe Parent^m ; ^{philippe.parent@chu-brest.fr" class="auth_mail" title="E-mail the corresponding author} ; Jean Chiesaⁿ ; ^{jean.chiesa@chu-nimes.fr" class="auth_mail" title="E-mail the corresponding author} ; Anne Dieux^o ; ^{anne.dieux@chru-lille.fr" class="auth_mail" title="E-mail the corresponding author} ; Florence Petit^o ; ^{florence.petit@chru-lille.fr" class="auth_mail" title="E-mail the corresponding author} ; Joelle Roume^p ; ^{drjroume@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Monica Isnard^q ; Val&eacute ; rie Cormier-Daire^c ; ^{valerie.cormier-daire@inserm.fr" class="auth_mail" title="E-mail the corresponding author} ; Agn&egrave ; s Linglart^e ; ^f ; ^{agnes.linglart@aphp.fr" class="auth_mail" title="E-mail the corresponding author} ; Jos&eacute ; Luis Mill&aacute ; n^d ; ^{millan@sanfordburnham.org" class="auth_mail" title="E-mail the corresponding author} ; Jean-Pierre Salles^b ; ^{salles.jp@chu-toulouse.fr" class="auth_mail" title="E-mail the corresponding author} ; Christine Muti^a ; ^{cmuti@ch-versailles.fr" class="auth_mail" title="E-mail the corresponding author} ; Brigitte Simon-Bouy^a ; ^{bsimon-bouy@ch-versailles.fr" class="auth_mail" title="E-mail the corresponding author} ; Etienne Mornet^a ; ^{emornet@ch-versailles.fr" class="auth_mail" title="E-mail the corresponding author}

关键词：Hypophosphatasia ; NGS ; Differential diagnosis ; Osteogenesis imperfecta

刊名：Molecular Genetics and Metabolism

出版年：2015

作者：A. Rothenbuhler ; L. Esterle ; N. Lahlou ; T. Bienvenu ; N. Bahi-Buisson ; A. Linglart

刊名：Archives de Pediatrie

出版年：2015

作者：Anya Rothenbuhler ; MD ; Agn&egrave ; s Linglart ; MD ; PhD ; Catherine Piquard ; MD ; Pierre Bougn&egrave ; res ; MD ; PhD ; ^{pierre.bougneres@inserm.fr}

关键词：GH ; Growth hormone ; IGF-1 ; Insulin-like growth factor 1 ; L4/L1 ; Ratio of interpedicular distances at the fourth and first lumbar vertebrae ; rGH ; Recombinant growth hormone ; SHR ; Sitting height-to-height ratio

刊名：The Journal of Pediatrics

出版年：2012

作者：Anya Rothenbuhler ; Constantine A. Stratakis

关键词：Carney complex ; Cushing’ ; s syndrome ; PPNAD ; Adrenocortical hyperplasia ; Multiple endocrine neoplasias ; PRKAR1A ; Myxoma ; Lentiginosis

刊名：Best Practice Research Clinical Endocrinology Metabolism

出版年：2010

作者：Maya B. Lodish ; Hui-Pin Hsiao ; Anastasios Serbis ; Ninet Sinaii ; Anya Rothenbuhler ; Margaret F. Keil ; Sosipatros A. Boikos ; James C. Reynolds ; Constantine A. Stratakis

刊名：The Journal of Pediatrics

出版年：2010

作者：I. Gueorguieva ; A. Linglart ; A. Rothenbuhler ; C. Piquard ; P. Bougneres

刊名：Archives de Pediatrie

出版年：2010

作者：C. Piquard-Mercier ; A. Rothenbuhler ; A. Linglart ; P. Bougneres

刊名：Archives de Pediatrie

出版年：2010

作者：A. Linglart ; I. March ; A. Djavidi ; C. Senez ; I. Benigni ; A. Rothenbuhler ; V. Forin

刊名：Archives de Pediatrie

出版年：2009