{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T15:36:08Z","timestamp":1764084968804},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,8,22]],"date-time":"2006-08-22T00:00:00Z","timestamp":1156204800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2006,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>von Willebrand disease (VWD) caused by the R1205H mutation has distinct and reproducible clinical and laboratory features. This report describes the phenotypic and molecular investigation of seven kindreds with VWD Vicenza R1205H. All affected individuals have historically been diagnosed with moderate to severe type 1 VWD. Amongst all families with highly penetrant type 1 VWD investigated at our centre, heterozygosity for the R1205H mutation was found to be the most common underlying molecular defect. A severe laboratory phenotype associated with a bleeding history that was milder than expected was commonly observed, consistent with previous published case reports; however, abnormal ultralarge high molecular weight multimers were not detected in resting plasma samples. We also provide evidence that the R1205H mutation may arise <jats:italic>de novo<\/jats:italic>\u2013 evidence that a common genetic origin for this mutation is unlikely.<\/jats:p>","DOI":"10.1111\/j.1365-2141.2006.06251.x","type":"journal-article","created":{"date-parts":[[2006,8,22]],"date-time":"2006-08-22T13:25:21Z","timestamp":1156253121000},"page":"91-96","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Inherited and <i>de novo<\/i> von Willebrand disease \u2018Vicenza\u2019 in UK families with the R1205H mutation: diagnostic pitfalls and new insights"],"prefix":"10.1111","volume":"135","author":[{"given":"William A.","family":"Lester","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea M.","family":"Guilliatt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gurcharan K.","family":"Surdhar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Said M.","family":"Enayat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan T.","family":"Wilde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Willoughby","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pam","family":"Grundy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony M.","family":"Cumming","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter W.","family":"Collins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank G. H.","family":"Hill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,8,31]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2005.05375.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1538-7836.2003.00359.x"},{"key":"e_1_2_6_4_1","first-page":"P0104","article-title":"Detection the 3614G>A (R1205H) mutation in the VWF gene in 26 Spanish patients with high penetrance dominant type 1 von Willebrand disease","volume":"1","author":"Casa\u00f1a P.","year":"2003","journal-title":"Journal of Thrombosis and Haemostasis"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V99.1.180"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.lab.2005.10.002"},{"key":"e_1_2_6_7_1","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1055\/s-0037-1614019","article-title":"An additional unique candidate mutation (G2470A; M740I) in the original families with von Willebrand disease type 2\u2003M Vicenza and the G3864A (R1205H) mutation","volume":"84","author":"Castaman G.","year":"2000","journal-title":"Thrombosis and Haemostasis"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V99.11.4243"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2006.01706.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.36.8.915"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V98.3.674"},{"issue":"1","key":"e_1_2_6_12_1","first-page":"P141","article-title":"Seven novel candidate mutations in exon 27 and 28 of von Willebrand gene in patients with type1, type 2M and unclassified von Willebrand disease","volume":"129","author":"Enayat M.S.","year":"2005","journal-title":"British Journal of Haematology"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10059"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.21.10325"},{"key":"e_1_2_6_15_1","doi-asserted-by":"crossref","first-page":"P3669","DOI":"10.1182\/blood.V104.11.3669.3669","article-title":"Increased clearance explains the ultra\u2010large multimers in von Willebrand disease type 2M Vicenza; lessons from recombinant VWF Vicenza and modeling of multimer catabolism","volume":"104","author":"G\u00e9zsi A.","year":"2004","journal-title":"Blood"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M310436200"},{"key":"e_1_2_6_17_1","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1182\/blood.V71.1.65.65","article-title":"von Willebrand disease \u2018\u2018Vicenza\u201c with larger\u2010than\u2010normal (supranormal) von Willebrand factor multimers","volume":"71","author":"Mannucci P.M.","year":"1988","journal-title":"Blood"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1614162"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V76.3.555.555"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.16.4957-a"},{"key":"e_1_2_6_21_1","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1055\/s-0037-1613769","article-title":"Von Willebrand Disease type 2M \u2018\u2018Vicenza\u2019\u2019 in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families","volume":"83","author":"Schneppenheim R.","year":"2000","journal-title":"Thrombosis and Haemostasis"},{"key":"e_1_2_6_22_1","first-page":"P1799","article-title":"Von Willebrand disease Vicenza with mutation R1205H of von Willebrand factor (VWF): study of 18 French patients and of recombinant VWF","author":"Veyradier A.","year":"2001","journal-title":"Thrombosis and Haemostasis"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1241"}],"container-title":["British Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2141.2006.06251.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-2141.2006.06251.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T12:19:57Z","timestamp":1697372397000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-2141.2006.06251.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,8,31]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,10]]}},"alternative-id":["10.1111\/j.1365-2141.2006.06251.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-2141.2006.06251.x","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"value":"0007-1048","type":"print"},{"value":"1365-2141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,8,31]]},"assertion":[{"value":"2006-08-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}