{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T19:05:33Z","timestamp":1693422333934},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2015,8,15]],"date-time":"2015-08-15T00:00:00Z","timestamp":1439596800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2016,1]]},"DOI":"10.1007\/s10689-015-9829-5","type":"journal-article","created":{"date-parts":[[2015,8,14]],"date-time":"2015-08-14T09:35:04Z","timestamp":1439544904000},"page":"25-29","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned"],"prefix":"10.1007","volume":"15","author":[{"given":"Bich-Thu","family":"Duong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ravi","family":"Savarirayan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid","family":"Winship","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2015,8,15]]},"reference":[{"key":"9829_CR1","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/j.ajhg.2014.10.016","volume":"95","author":"R Law","year":"2014","unstructured":"Law R, Dixon-Salazar T, Jerber J et al (2014) Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein formin 2, cause nonsyndromic autosomal-recessive intellectual disability. Am J Hum Genet 95:721\u2013728","journal-title":"Am J Hum Genet"},{"key":"9829_CR2","doi-asserted-by":"crossref","first-page":"869","DOI":"10.2174\/1566524043359638","volume":"4","author":"M Kiuru","year":"2004","unstructured":"Kiuru M, Launonen V (2004) Hereditary leiomyomatosis and renal cell cancer (HLRCC). Curr Mol Med 4:869\u2013875","journal-title":"Curr Mol Med"},{"key":"9829_CR3","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.ccr.2005.06.017","volume":"8","author":"JS Isaacs","year":"2005","unstructured":"Isaacs JS, Yun JJ, Mole DR et al (2005) HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. Cancer Cell 8:143\u2013153","journal-title":"Cancer Cell"},{"key":"9829_CR4","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1002\/ajmg.a.34344","volume":"158A","author":"A Mroch","year":"2012","unstructured":"Mroch A, Laudenschlager M, Flanagan J (2012) Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency. Am J Med Genet 158A:155\u2013158","journal-title":"Am J Med Genet"},{"issue":"4","key":"9829_CR5","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1007\/s10689-014-9735-2","volume":"13","author":"FH Menko","year":"2014","unstructured":"Menko FH, Maher ER, Schmidt LS et al (2014) Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Fam Cancer 13(4):637\u2013644","journal-title":"Fam Cancer"},{"key":"9829_CR6","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/s10689-011-9428-z","volume":"10","author":"HJ Lehtonen","year":"2011","unstructured":"Lehtonen HJ (2011) Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. Fam Cancer 10:397\u2013411","journal-title":"Fam Cancer"},{"issue":"5","key":"9829_CR7","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/humu.21438","volume":"32","author":"IF Fokkema","year":"2011","unstructured":"Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT (2011) LOVD v. 2.0: the next generation in gene variant databases. Hum Mutat 32(5):557\u2013563","journal-title":"Hum Mutat"},{"key":"9829_CR8","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1093\/hmg\/ddg148","volume":"12","author":"N Alam","year":"2003","unstructured":"Alam N, Rowan A, Worth N et al (2003) Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet 12:1241\u20131252","journal-title":"Hum Mol Genet"},{"key":"9829_CR9","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1038\/nrc1364","volume":"4","author":"C Pavlovich","year":"2004","unstructured":"Pavlovich C, Schmidt L (2004) Searching for the hereditary causes of renal-cell carcinoma. Nat Rev Cancer 4:381\u2013393","journal-title":"Nat Rev Cancer"},{"key":"9829_CR10","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1086\/376435","volume":"73","author":"JR Toro","year":"2003","unstructured":"Toro JR, Nickerson ML, Wei MH et al (2003) Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet 73:95\u2013106","journal-title":"Am J Hum Genet"},{"key":"9829_CR11","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1097\/PAS.0b013e31804375b8","volume":"31","author":"MJ Merino","year":"2007","unstructured":"Merino MJ, Torres-Cabala C, Pinto P et al (2007) The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. Am J Surg Pathol 31:1578\u20131585","journal-title":"Am J Surg Pathol"},{"key":"9829_CR12","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/s10689-011-9491-5","volume":"11","author":"K Spaendonck-Zwarts van","year":"2012","unstructured":"van Spaendonck-Zwarts K, Badeloe S, Oosting S et al (2012) Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18\u00a0years of age: implications for surveillance. Fam Cancer 11:123\u2013129","journal-title":"Fam Cancer"},{"key":"9829_CR13","first-page":"138","volume":"27","author":"O Iliopoulos","year":"2000","unstructured":"Iliopoulos O, Eng C (2000) Genetic and clinical aspects of familial renal neoplasms. Semin Oncol 27:138\u2013149","journal-title":"Semin Oncol"},{"key":"9829_CR14","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1097\/GIM.0b013e318220aaba","volume":"13","author":"JS Berg","year":"2011","unstructured":"Berg JS, Khoury MJ, Evans JP (2011) Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genet Med 13:499\u2013504","journal-title":"Genet Med"},{"issue":"7","key":"9829_CR15","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1038\/gim.2013.73","volume":"15","author":"RC Green","year":"2013","unstructured":"Green RC, Berg JS, Grody WW et al (2013) ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 15(7):565\u2013574","journal-title":"Genet Med"},{"issue":"8","key":"9829_CR16","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1001\/jama.2013.276573","volume":"310","author":"Y Bombard","year":"2013","unstructured":"Bombard Y, Robson M, Offit K (2013) Revealing the incidentaloma when targeting the tumor genome. JAMA 310(8):795\u2013796","journal-title":"JAMA"},{"issue":"11","key":"9829_CR17","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1038\/gim.2013.113","volume":"15","author":"W Burke","year":"2013","unstructured":"Burke W, Antommaria AHM, Bennett R et al (2013) Recommendations for returning genomic incidental findings? We need to talk! Genet Med 15(11):854\u2013859","journal-title":"Genet Med"},{"key":"9829_CR18","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1038\/ejhg.2013.46","volume":"21","author":"C El van","year":"2013","unstructured":"van El C, Cornel M, Borry P (2013) Whole-genome sequencing in health care. Recommendations of the European society of human genetics. Eur J Hum Genet 21:580\u2013584","journal-title":"Eur J Hum Genet"},{"key":"9829_CR19","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1111\/cge.12060","volume":"84","author":"AA Lemke","year":"2013","unstructured":"Lemke AA, Bick D, Dimmock D et al (2013) Perspective of clinical genetics professionals toward genome sequencing and incidental findings: a survey study. Clin Genet 84:230\u2013236","journal-title":"Clin Genet"},{"issue":"5","key":"9829_CR20","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1111\/cge.12390","volume":"86","author":"KA Strong","year":"2014","unstructured":"Strong KA, Zusevics KL, Bick D et al (2014) Views of primary care providers regarding the return of genome sequencing incidental findings. Clin Genet 86(5):461\u2013468","journal-title":"Clin Genet"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-015-9829-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-015-9829-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-015-9829-5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T21:46:16Z","timestamp":1559252776000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10689-015-9829-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,8,15]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,1]]}},"alternative-id":["9829"],"URL":"https:\/\/doi.org\/10.1007\/s10689-015-9829-5","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,8,15]]}}}