{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:08:20Z","timestamp":1792166900031,"version":"4.4.0"},"reference-count":21,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2000,10,1]],"date-time":"2000-10-01T00:00:00Z","timestamp":970358400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2000,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Type II autosomal dominant osteopetrosis (ADO II) is characterized by an increased bone mass that contrasts with the high frequency of fractures. Linkage analysis performed in an extensive Danish family recently provided evidence for the mapping of an ADO II gene to an 8.5-cM region in chromosome 1p21 between microsatellite markers D1S486 and D1S2792. We recruited, phenotyped, and haplotyped 4F catheter ADO II families including 18 affected subjects and 29 unaffected subjects in order to narrow the candidate region and to search for genetic heterogeneity. ADO II diagnosis was ascertained by the observation of vertebral end plate thickening in at least 2 patients from successive generations. Linkage studies involved five microsatellite markers (D1S486, D1S206, D1S495, D1S248, and D1S2792) spanning 1p21. Haplotype analyses of two of our families clearly excluded the tested locus. The two remaining families gave poorly informative results. These results, combined with those previously reported in two American families, suggest that chromosomal region 1p21 is most likely a minor locus for ADO II.<\/jats:p>","DOI":"10.1359\/jbmr.2000.15.10.1900","type":"journal-article","created":{"date-parts":[[2006,4,27]],"date-time":"2006-04-27T01:58:35Z","timestamp":1146103115000},"page":"1900-1904","source":"Crossref","is-referenced-by-count":18,"title":["Further Evidence for Genetic Heterogeneity Within Type II Autosomal Dominant Osteopetrosis"],"prefix":"10.1093","volume":"15","author":[{"given":"O. D.","family":"B\u00e9nichou","sequence":"first","affiliation":[{"name":"INSERM Unit 349, H\u00f4pital Lariboisi\u00e8re, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"B\u00e9nichou","sequence":"additional","affiliation":[{"name":"INSERM Unit 349, H\u00f4pital Lariboisi\u00e8re, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Copin","sequence":"additional","affiliation":[{"name":"Laboratoire Cytog\u00e9n\u00e9tique, H\u00f4pital Lariboisie\u00ece, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. C.","family":"De Vernejoul","sequence":"additional","affiliation":[{"name":"INSERM Unit 349, H\u00f4pital Lariboisi\u00e8re, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Van Hul","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Universiteitsplein 1, University of Antwerpen, Antwerpen, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2009,12,2]]},"reference":[{"key":"2024020714085530300_bib1","first-page":"365","article-title":"R\u00f6ntgenbilder einer seltenen Knochenerkrankung","volume":"51","author":"Albers-Sch\u00f6nberg","year":"1904","journal-title":"Muenchener Med Wschr"},{"key":"2024020714085530300_bib2","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1210\/edrv-10-1-45","article-title":"Autosomal dominant osteopetrosis: Bone metabolism and epidemiological, clinical, and hormonal aspects","volume":"10","author":"Bollerslev","year":"1989","journal-title":"Endocr Rev"},{"key":"2024020714085530300_bib3","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1111\/j.1399-0004.1987.tb02774.x","article-title":"Osteopetrosis. A genetic and epidemiological study","volume":"31","author":"Bollerslev","year":"1987","journal-title":"Clin Genet"},{"key":"2024020714085530300_bib4","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1017\/S1120962300016954","article-title":"Osteopetrosis: Review of dominant cases and frequency in a Brazilian state","volume":"10","author":"Salzano","year":"1961","journal-title":"Acta Genet Med Gemellol (Roma)"},{"key":"2024020714085530300_bib5","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1148\/radiology.164.1.3588909","article-title":"Heterogeneity of autosomal dominant osteopetrosis","volume":"164","author":"Andersen","year":"1987","journal-title":"Radiology"},{"key":"2024020714085530300_bib6","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1097\/00005792-196803000-00004","article-title":"Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form","volume":"47","author":"Johnston","year":"1968","journal-title":"Medicine"},{"key":"2024020714085530300_bib7","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/S8756-3282(99)00244-6","article-title":"Type II autosomal dominant osteopetrosis (Albers-Sch\u00f6nberg disease): Clinical and radiological manifestations in 42 patients","volume":"26","author":"B\u00e9nichou","year":"2000","journal-title":"Bone"},{"key":"2024020714085530300_bib8","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1086\/514844","article-title":"Localization of a gene for autosomal dominant osteopetrosis (Albers Sch\u00f6nberg disease) to chromosome 1p21","volume":"61","author":"Van Hul","year":"1997","journal-title":"Am J Hum Genet"},{"key":"2024020714085530300_bib9","first-page":"W336","article-title":"Evidence for genetic heterogeneity in Albers Sch\u00f6nberg osteopetrosis (type II autosomal dominant osteopetrosis)","volume":"23","author":"B\u00e9nichou","year":"1998","journal-title":"Bone"},{"key":"2024020714085530300_bib10","first-page":"1047","article-title":"Locus heterogeneity of autosomal dominant osteopetrosis (ADO)","volume":"84","author":"White","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"2024020714085530300_bib11","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/380152a0","article-title":"A comprehensive genetic map of the human genome based on 5,264 microsatellites","volume":"380","author":"Dib","year":"1996","journal-title":"Nature"},{"key":"2024020714085530300_bib12","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1073\/pnas.74.3.1245","article-title":"Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants","volume":"74","author":"Krunkel","year":"1977","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2024020714085530300_bib13","first-page":"460","article-title":"Easy calculations of lod scores and genetic risks on small computers","volume":"36","author":"Lathrop","year":"1984","journal-title":"Am J Hum Genet"},{"key":"2024020714085530300_bib14","first-page":"SA065","article-title":"Clinical, radiological, and genetic features of a new type of human dominant osteopetrosis","volume":"12","author":"Benichou","year":"1999","journal-title":"J Bone Miner Res"},{"key":"2024020714085530300_bib15","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1007\/s002560050215","article-title":"Autosomal dominant osteopetrosis: Report of a Norwegian family with radiographic or anamnestic findings differing from the generally accepted classification","volume":"26","author":"Lund-Sorensen","year":"1997","journal-title":"Skeletal Radiol"},{"key":"2024020714085530300_bib16","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1530\/eje.0.1340143","article-title":"Recent developments in the understanding of the pathophysiology of osteopetrosis","volume":"134","author":"Felix","year":"1996","journal-title":"Eur J Endocrinol"},{"key":"2024020714085530300_bib17","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1111\/j.0954-6820.1988.tb19614.x","article-title":"Biochemical evidence of disturbed bone metabolism and calcium homeostasis in two types of autosomal dominant osteopetrosis","volume":"224","author":"Bollerslev","year":"1988","journal-title":"Acta Med Scand"},{"key":"2024020714085530300_bib18","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1016\/8756-3282(93)90316-3","article-title":"Ultrastructural investigations of bone resorptive cells in two types of autosomal dominant osteopetrosis","volume":"14","author":"Bollerslev","year":"1993","journal-title":"Bone"},{"key":"2024020714085530300_bib19","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/S0092-8674(00)80209-3","article-title":"Osteoprotegerin: A novel secreted protein involved in the regulation of bone density","volume":"89","author":"Simonet","year":"1997","journal-title":"Cell"},{"key":"2024020714085530300_bib20","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1038\/345442a0","article-title":"The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene","volume":"345","author":"Yoshida","year":"1990","journal-title":"Nature"},{"key":"2024020714085530300_bib21","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/0092-8674(91)90499-O","article-title":"Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice","volume":"64","author":"Soriano","year":"1991","journal-title":"Cell"}],"container-title":["Journal of Bone and Mineral Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1359%2Fjbmr.2000.15.10.1900","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/15\/10\/1900\/56602126\/5650151005.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/15\/10\/1900\/56602126\/5650151005.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T14:59:13Z","timestamp":1710341953000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmr\/article\/15\/10\/1900-1904\/7515490"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,10,1]]},"references-count":21,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2009,12,2]]},"published-print":{"date-parts":[[2000,10,1]]}},"URL":"https:\/\/doi.org\/10.1359\/jbmr.2000.15.10.1900","relation":{},"ISSN":["0884-0431","1523-4681"],"issn-type":[{"value":"0884-0431","type":"print"},{"value":"1523-4681","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2000,10,1]]},"published":{"date-parts":[[2000,10,1]]}}}