{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T14:31:13Z","timestamp":1791469873488,"version":"4.3.4"},"reference-count":34,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2015,11,1]],"date-time":"2015-11-01T00:00:00Z","timestamp":1446336000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,11,1]],"date-time":"2015-11-01T00:00:00Z","timestamp":1446336000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2015,11]]},"DOI":"10.1016\/j.ymgme.2015.09.010","type":"journal-article","created":{"date-parts":[[2015,10,2]],"date-time":"2015-10-02T01:51:39Z","timestamp":1443750699000},"page":"215-220","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":67,"title":["Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing"],"prefix":"10.1016","volume":"116","author":[{"given":"Agn\u00e8s","family":"Taillandier","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christelle","family":"Domingues","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e9mence","family":"De Cazanove","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Porquet-Bordes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Monnot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina","family":"Kiffer-Moreira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Rothenbuhler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Guggenbuhl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Cormier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Baujat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Debiais","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yline","family":"Capri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Cohen-Solal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Parent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Chiesa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Dieux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Petit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joelle","family":"Roume","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Isnard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Cormier-Daire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Linglart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Luis","family":"Mill\u00e1n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Pierre","family":"Salles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Muti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Simon-Bouy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Etienne","family":"Mornet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2015.09.010_bb0005","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.berh.2007.11.003","volume":"22","author":"Mornet","year":"2008","journal-title":"Hypophosphatasia Best Pract Res Clin Rheumatol"},{"key":"10.1016\/j.ymgme.2015.09.010_bb0010","series-title":"Hypophosphatasia","author":"Whyte","year":"2013"},{"key":"10.1016\/j.ymgme.2015.09.010_bb0015","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1002\/(SICI)1096-8628(19991029)86:5<410::AID-AJMG3>3.0.CO;2-0","article-title":"Mild autosomal dominant hypophosphatasia: in utero presentation in two families","volume":"86","author":"Moore","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0020","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1002\/(SICI)1096-8628(19991029)86:5<434::AID-AJMG8>3.0.CO;2-C","article-title":"Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken","volume":"86","author":"Pauli","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0025","doi-asserted-by":"crossref","first-page":"2389","DOI":"10.1002\/jbmr.454","article-title":"Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)","volume":"26","author":"Wenkert","year":"2011","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0030","unstructured":"E. Mornet, The Tissue Nonspecific Alkaline gene mutation database http:\/\/www.sesep.uvsq.fr\/03_hypo_mutations.php updated May 6, 2015 (2015)."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0035","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1016\/j.jpeds.2006.01.031","article-title":"Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry","volume":"148","author":"Whyte","year":"2006","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0040","first-page":"1255","article-title":"Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene","volume":"33","author":"Petkovic Ramadza","year":"2009","journal-title":"Coll. Anthropol."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0045","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1136\/archdischild-2013-305037","article-title":"Clinical and genetic aspects of hypophosphatasia in Japanese patients","volume":"99","author":"Taketani","year":"2014","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0050","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/j.bone.2015.02.022","article-title":"Hypophosphatasia: validation and expansion of the clinical nosology for children from 25years experience with 173 pediatric patients","volume":"75","author":"Whyte","year":"2015","journal-title":"Bone"},{"key":"10.1016\/j.ymgme.2015.09.010_bb0055","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1038\/ejhg.2014.10","article-title":"Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia","volume":"22","author":"Hofmann","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0060","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1002\/jbmr.527","article-title":"Rare coding variants in ALPL are associated with low serum alkaline phosphatase and low bone mineral density","volume":"27","author":"Nielson","year":"2012","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0065","article-title":"Clinical utility gene card for: hypophosphatasia \u2014 update 2013","volume":"22","author":"Mornet","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0070","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<309::AID-HUMU2>3.0.CO;2-C","article-title":"Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene","volume":"15","author":"Mornet","year":"2000","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0075","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/1471-2350-10-51","article-title":"Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles","volume":"10","author":"Fauvert","year":"2009","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0080","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1089\/gte.2006.10.252","article-title":"Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments","volume":"10","author":"Spentchian","year":"2006","journal-title":"Genet. Test."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0085","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/ejhg.2011.141","article-title":"EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta","volume":"20","author":"van Dijk","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0090","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.ymgme.2015.05.002","article-title":"Next Generation Sequencing in endocrine practice","volume":"115","author":"Forlenza","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0095","doi-asserted-by":"crossref","DOI":"10.1038\/nrendo.2015.72","article-title":"Insights from exome sequencing for endocrine disorders","author":"de Bruin","year":"2015","journal-title":"Nat. Rev. Endocrinol."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0100","doi-asserted-by":"crossref","DOI":"10.1002\/pd.4675","article-title":"Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities","author":"Drury","year":"2015","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0105","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2013","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ymgme.2015.09.010_bb0110","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0115","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ymgme.2015.09.010_bb0120","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human splicing finder: an online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0125","doi-asserted-by":"crossref","first-page":"9158","DOI":"10.1074\/jbc.M009250200","article-title":"Crystal structure of alkaline phosphatase from human placenta at 1.8A resolution. Implication for a substrate specificity","volume":"276","author":"Le Du","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0130","doi-asserted-by":"crossref","first-page":"31171","DOI":"10.1074\/jbc.M102788200","article-title":"Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization","volume":"276","author":"Mornet","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0135","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1038\/sj.ejhg.5200190","article-title":"Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia","volume":"6","author":"Mornet","year":"1998","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0140","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1007\/s004390100546","article-title":"A molecular approach to dominance in hypophosphatasia","volume":"109","author":"Lia-Baldini","year":"2001","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0145","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1007\/s00431-004-1612-9","article-title":"Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia","volume":"164","author":"Michigami","year":"2005","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0150","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1034\/j.1600-0722.2000.108003189.x","article-title":"Characterization of a family with dominant hypophosphatasia","volume":"108","author":"Hu","year":"2000","journal-title":"Eur. J. Oral Sci."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0155","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/humu.20429","article-title":"Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans","volume":"28","author":"Marini","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0160","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1172\/JCI114897","article-title":"A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome","volume":"86","author":"Phillips","year":"1990","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2015.09.010_bb0165","doi-asserted-by":"crossref","first-page":"1470","DOI":"10.1002\/ajmg.a.36545","article-title":"Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment","volume":"164A","author":"Van Dijk","year":"2014","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.ymgme.2015.09.010_bb0170","doi-asserted-by":"crossref","first-page":"24168","DOI":"10.1074\/jbc.M114.576843","article-title":"Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia","volume":"289","author":"Silvent","year":"2014","journal-title":"J. Biol. Chem."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719215300561?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719215300561?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T23:22:46Z","timestamp":1761088966000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719215300561"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,11]]},"references-count":34,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,11]]}},"alternative-id":["S1096719215300561"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2015.09.010","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2015,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2015.09.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}