{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T03:19:08Z","timestamp":1778642348725,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,6,3]],"date-time":"2003-06-03T00:00:00Z","timestamp":1054598400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have conducted a segregation analysis in order to characterise the transmission of Beh\u00e7et Disease (BD), a multifactorial condition with a strong genetic component. Complete information about BD status and pedigree was obtained on 104 probands from our database. We used the criteria of the International Study Group for BD (ISBD) to delineate the clinical status of the sibs: possible BD (patients meeting two criteria), or ascertained BD (patients meeting at least three criteria). A proband was defined as \u201cpaediatric\u201d when he\/she completed ISBD criteria before\/by the age of 16 years. Families were distinguished as paediatric (n\u2009=\u200967) (ascertained through a paediatric proband), and non\u2010paediatric (n\u2009=\u200937) ones. An Expectation Maximization (EM) algorithm was used to estimate the Mendelian segregation ratio <jats:italic>P<\/jats:italic> in nuclear families (two parents and their offspring). The maximum likelihood estimate: <jats:italic>P\u0302<\/jats:italic>\u2009=\u20090.248, calculated in the paediatric data set, was consistent with the theoretical value of <jats:italic>P<\/jats:italic>\u2009=\u2009\u00bc for autosomal recessive inheritance, whereas the <jats:italic>P\u0302<\/jats:italic> value was 0.08 when using the non\u2010paediatric data set. Our work provides the first evidence of genetic heterogeneity in BD, and of the existence of a Mendelian entity in the paediatric BD subgroup. Previous studies failed to show any simple mode of inheritance in BD, probably because they were performed on the whole BD population. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20136","type":"journal-article","created":{"date-parts":[[2003,9,2]],"date-time":"2003-09-02T19:30:11Z","timestamp":1062531011000},"page":"115-118","source":"Crossref","is-referenced-by-count":30,"title":["Identification of an autosomal recessive mode of inheritance in paediatric Beh\u00e7et's families by segregation analysis"],"prefix":"10.1002","volume":"122A","author":[{"given":"N.","family":"Molinari","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I. Kon\u00e9","family":"Paut","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Manna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Demaille","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.P.","family":"Daures","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Touitou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,6,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/ard.38.2.118"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/ard.45.4.265"},{"key":"e_1_2_6_4_1","first-page":"241","article-title":"Behcet's disease","volume":"22","author":"Curth HO","year":"1967","journal-title":"J Am Med Womens Assoc"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/ard.57.1.45"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/ard.59.8.622"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/1529-0131(200111)44:11<2693::AID-ART449>3.0.CO;2-M"},{"key":"e_1_2_6_8_1","first-page":"1078","article-title":"Criteria for diagnosis of Behcet's disease","volume":"335","author":"International Study Group for Behcet's Disease","year":"1990","journal-title":"Lancet"},{"key":"e_1_2_6_9_1","unstructured":"KarasnehJ GulA OllierWER SilmanA WorthingtonJ.2002.Whole genome screening of muticase families with Beh\u00e7et's disease. Abstract 030 of the 10th International Conference on Behcet's Disease."},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70333-1"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4757-2739-5"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200608"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10335"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320670102"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200009)16:3<271::AID-HUMU16>3.0.CO;2-A"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10282"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20136","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20136","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T16:54:15Z","timestamp":1697043255000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20136"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,6,3]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,10]]}},"alternative-id":["10.1002\/ajmg.a.20136"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20136","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,6,3]]}}}