« Rickets resistant to vitamin D therapy ». American journal of diseases of children 54, 1937. ,
Therapeutic Effects of Anti-FGF23 Antibodies in Hypophosphatemic Rickets/Osteomalacia*, Journal of Bone and Mineral Research, vol.24, issue.11, 2009. ,
DOI : 10.1359/jbmr.090509
Le rachitisme hypophosphatémique : une tubulopathie proximale ! » Archives de pédiatrie 22, pp.48-4910, 2015. ,
DOI : 10.1016/s0929-693x(15)30025-7
Osteoclasts differentiate from resident precursors in an in vivo model of synchronized resorption: a temporal and spatial study in rats, Bone, vol.27, issue.5, pp.627-634, 2000. ,
DOI : 10.1016/S8756-3282(00)00372-0
Phenotype Presentation of Hypophosphatemic Rickets in Adults, Calcified Tissue International, vol.34, issue.2, pp.108-127, 2010. ,
DOI : 10.1136/bmj.312.7041.1254
Phosphate and vitamin D prevent periodontitis in X-linked hypophosphatemia », Journal of dental research, pp.1-8, 2016. ,
Osteopontin and the dento-osseous pathobiology of X-linked hypophosphatemia, Bone, vol.95, 2017. ,
DOI : 10.1016/j.bone.2016.11.019
URL : https://hal.archives-ouvertes.fr/hal-01616767
Chaussain-Miller. « Dentin alteration of deciduous teeth in human hypophosphatemic rickets ». Calcified tissue international 79, pp.294-300, 2006. ,
« A clinician's guide to Xlinked hypophosphatemia », Journal of bone and mineral research, vol.26, issue.7, 2011. ,
Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia ». The journal of clinical investigation 124, pp.1587-9710, 1172. ,
Dental abnormalities in patients with familial hypophosphatemic vitamin D-resistant rickets: Prevention by early treatment with 1-hydroxyvitamin D, The Journal of Pediatrics, vol.142, issue.3, 2003. ,
DOI : 10.1067/mpd.2003.119
Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms, European Journal of Endocrinology, vol.71, issue.3, pp.325-358, 2016. ,
DOI : 10.1172/JCI72829
« Papilledema in the setting of X-linked hypophosphatemic rickets with craniosynostosis ». Case reports in ophthalmology 2, pp.376-81, 2011. ,
« Impaired hearing in X-linked hypophosphataemic (vitamin-Dresistant ) osteomalacia ». Annals of internal medicine 100, 1984. ,
, , pp.715-734, 1999.
Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets., Proceedings of the national academy of sciences 73, pp.12-4667, 1976. ,
DOI : 10.1073/pnas.73.12.4667
Osteocyte regulation of phosphate homeostasis and bone mineralization underlies the pathophysiology of the heritable disorders of rickets and osteomalacia, Bone, vol.54, issue.2, 2013. ,
DOI : 10.1016/j.bone.2013.01.046
« Hearing impairment in familial X-linked hypophosphatemic rickets ». European journal of pediatrics 163, pp.622-645, 2004. ,
Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia, Orphanet Journal of Rare Diseases, vol.12, issue.1, pp.160-170, 2016. ,
DOI : 10.1186/1477-7525-12-54
Rare Bone Diseases and Their Dental, Oral, and Craniofacial Manifestations, Rare bone diseases and their dental, oral, and craniofacial manifestations, pp.7-19, 2014. ,
DOI : 10.1016/0221-8747(83)90001-2
URL : http://europepmc.org/articles/pmc4107543?pdf=render
A gene (PEX) with homologies to endopeptidases is mutated in patients with X???linked hypophosphatemic rickets, Nature Genetics, vol.19, issue.2, pp.130-3610, 1038. ,
DOI : 10.1038/ng0194-84
Chaussain- Miller. « Dentin noncollagenous matrix proteins in familial hypophosphatemic rickets ». Cells tissues organs 189, pp.1-4, 1159. ,
Analyse critique des complications du traitement chirurgical des déformations des membres chez des enfants ayant un rachitisme hypophosphatémique ». Revue de chirurgie orthopédique et traumatologique 101, 2015. ,
DOI : 10.1016/j.rcot.2015.09.051
Dental sequelae in deciduous dentition in vitamin D resistant rickets: Case Report, Australian Dental Journal, vol.5, issue.4, pp.200-203, 1960. ,
DOI : 10.1111/j.1834-7819.1960.tb01937.x
Mineralizing Enthesopathy Is a Common Feature of Renal Phosphate-Wasting Disorders Attributed to FGF23 and Is Exacerbated by Standard Therapy in Hyp Mice, Endocrinology, vol.153, issue.12, pp.122012-1551, 2012. ,
DOI : 10.1210/en.2012-1551
« Vitamin D deficiency and rickets : consensus at last ». Archives of disease in childhood 101, pp.408-418, 2016. ,
« Survey of the enthesopathy of Xlinked hypophosphatemia and its characterization in Hyp mice ». Calcified tissue international 85, pp.235-281, 2009. ,
« An atypical degenerative osteoarthropathy in Hyp mice is characterized by a loss in the mineralized zone of articular cartilage ». Calcified tissue international 89, pp.151-62, 2011. ,
Therapeutic management of hypophosphatemic rickets from infancy to adulthood, Endocrine Connections, vol.3, issue.1, 2014. ,
DOI : 10.1530/EC-13-0103
, , pp.872-73, 1934.
Excessive Osteocytic Fgf23 Secretion Contributes to Pyrophosphate Accumulation and Mineralization Defect in Hyp Mice, PLOS Biology, vol.6, issue.4, 2016. ,
DOI : 10.1371/journal.pbio.1002427.s003
Impact of oral health on the life quality of periodontal patients, Journal of Clinical Periodontology, vol.14, issue.6, 2004. ,
DOI : 10.1111/j.1600-051X.1987.tb01522.x
« The petrous temporal bone and deafness in X-linked hypophosphataemic osteomalacia », Clinical radiology, vol.3988, issue.5, pp.528-530, 1988. ,
« Tooth dentin defects reflect genetic disorders affecting bone mineralization, Bone, vol.50, issue.4, 2012. ,
« Hearing loss and fluctuating hearing levels in X-linked hypophosphataemic osteomalacia ». The journal of laryngology and otology 123, pp.136-146, 2009. ,
« Hypophosphatemic rickets : etiology, clinical features and treatment ». European journal of orthopaedic surgery and traumatology 25, pp.221-247, 2015. ,
Dental Alterations Associated with X-Linked Hypophosphatemic Rickets, Journal of Endodontics, vol.30, issue.4, pp.241-245, 2004. ,
DOI : 10.1097/00004770-200404000-00015
« Enamel and dentin mineralization in familial hypophosphatemic rickets : a micro-CT study ». Dentomaxillofacial radiology 44, p.20140347, 2015. ,
« Regulation of bone-renal mineral and energy metabolism : the PHEX, FGF23, DMP1, MEPE ASARM pathway ». Critical reviews in eukaryotic gene expression 22, pp.61-86, 2012. ,
MEPE-Derived ASARM Peptide Inhibits Odontogenic Differentiation of Dental Pulp Stem Cells and Impairs Mineralization in Tooth Models of X-Linked Hypophosphatemia, PLoS ONE, vol.398, issue.2, 2013. ,
DOI : 10.1371/journal.pone.0056749.s003
, Hypophosphatemia and growth ». Pediatric nephrology 28, pp.595-603, 2013.
,
Consulté le 15 juin 2017. https://www.jax.org/strain/005068, ???. « C57BL/6-Phex Hyp-2J /J ». Consulté le 15 juin 2017 ,
« Abnormalities in muscle density and muscle function in hypophosphatemic rickets ». The journal of clinical endocrinology and metabolism 97, pp.2012-1336, 2012. ,
« The muscle-bone relationship in X-linked hypophosphatemic rickets ». The journal of clinical endocrinology and metabolism 98, pp.990-95102012, 1210. ,
Periodontal Status of Patients With Hypophosphatemic Rickets: A Case Series, Journal of Periodontology, vol.161, issue.11, 2011. ,
DOI : 10.1530/EJE-09-0261
Osteopontin deficiency protects joints against destruction in anti-type II collagen antibody-induced arthritis in mice, Proceedings of the national academy of sciences 99, pp.4556-4561, 2002. ,
DOI : 10.1097/00045391-200105000-00005