{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T00:28:25Z","timestamp":1700267305403},"reference-count":40,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3773,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,1,16]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Roberts syndrome (RS) is a rare, autosomal recessive condition characterized primarily by growth retardation, developmental delay, and limb anomalies. Some RS patients (RS+), but not others (RS\u2212), have an abnormality of their constitutive heterochromatin (the \u201cRS effect\u201d). RS+ patients also show a cellular hypersensitivity to DNA damaging agents such as mitomycin C (MMC). Lymphoblastoid cell lines from 2 unrelated RS+ patients were fused and hybrid cells examined for correction of the RS effect and MMC hypersensitivity. Neither cellular defect was corrected in the 2 hybrid cell lines examined, suggesting that these 2 patients represent a single complementation group. Fusions were also performed between one RS+ cell line and 2 different RS\u2212 cell lines. In both fusions, the hybrids demonstrated correction of both the heterochromatin abnormality and MMC hypersensitivity. These observations suggest that RS+ and RS\u2212 patients belong to different complementation groups and do not arise from the same single gene mutation. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320550208","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:53:48Z","timestamp":1118512428000},"page":"188-194","source":"Crossref","is-referenced-by-count":12,"title":["Heterogeneity in Roberts syndrome"],"prefix":"10.1002","volume":"55","author":[{"given":"Diane J.","family":"Allingham\u2010Hawkins","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Darrell J.","family":"Tomkins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01233169"},{"key":"e_1_2_1_3_1","volume-title":"Statistix, Version 3.5, An Interactive Statistical Analysis Program for the IBM PC","author":"Analytical Software","year":"1991"},{"key":"e_1_2_1_4_1","first-page":"182","article-title":"Human population genetic studies of five hypervariable DNA loci","volume":"44","author":"Balazs I","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","first-page":"181","article-title":"Modifications to improve the effectiveness of restriction fragment length polymorphism typing","volume":"1","author":"Budowle B","year":"1990","journal-title":"Appl Theor Electrophor"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-1161(89)90049-6"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb01652.x"},{"key":"e_1_2_1_8_1","first-page":"243","article-title":"The Roberts tetraphocomelia syndrome: Identical limb defects in two siblings","volume":"30","author":"Fryns JP","year":"1987","journal-title":"Ann Genet"},{"key":"e_1_2_1_9_1","first-page":"144","article-title":"Carcinogen hypersensitivity in cultured fibroblast strains from Roberts syndrome patients (abstract)","volume":"29","author":"Gentner NE","year":"1986","journal-title":"Proc Can Fed Biol Sci"},{"key":"e_1_2_1_10_1","first-page":"A231","article-title":"Roberts syndrome fibroblasts with heterochromatin abnormality show hypersensitivity to carcinogen\u2010induced cytotoxicity (abstract)","volume":"37","author":"Gentner NE","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb01354.x"},{"key":"e_1_2_1_12_1","first-page":"353","article-title":"The tetraphocomeliacleft palate syndrome","volume":"28","author":"Grosse FR","year":"1975","journal-title":"Humangenetik"},{"key":"e_1_2_1_13_1","first-page":"71","article-title":"Roberts syndrome: antenatal ultrasound\u2013a case report","volume":"16","author":"Grundy HO","year":"1988","journal-title":"J Perinat Med"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01535206"},{"key":"e_1_2_1_15_1","first-page":"81","volume-title":"The First Conference on the Clinical Delineation of Birth Defects, Part III. 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