{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:10:36Z","timestamp":1761718236672},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2012,9,21]],"date-time":"2012-09-21T00:00:00Z","timestamp":1348185600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Appl Genetics"],"published-print":{"date-parts":[[2013,2]]},"DOI":"10.1007\/s13353-012-0115-z","type":"journal-article","created":{"date-parts":[[2012,9,20]],"date-time":"2012-09-20T02:13:19Z","timestamp":1348107199000},"page":"43-47","source":"Crossref","is-referenced-by-count":8,"title":["A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome"],"prefix":"10.1007","volume":"54","author":[{"given":"Marija","family":"Hiljadnikova Bajro","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Sukarova-Angelovska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose","family":"Ad\u00e9la\u00efde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Max","family":"Chaffanet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandar J.","family":"Dimovski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,9,21]]},"reference":[{"key":"115_CR1","doi-asserted-by":"crossref","first-page":"11565","DOI":"10.1158\/0008-5472.CAN-07-2536","volume":"67","author":"J Ad\u00e9la\u00efde","year":"2007","unstructured":"Ad\u00e9la\u00efde J, Finetti P, Bekhouche I, Repellini L, Geneix J, Sircoulomb F, Charafe-Jauffret E, Cervera N, Desplans J, Parzy D, Schoenmakers E, Viens P, Jacquemier J, Birnbaum D, Bertucci F, Chaffanet M (2007) Integrated profiling of basal and luminal breast cancers. Cancer Res 67:11565\u201311575","journal-title":"Cancer Res"},{"key":"115_CR2","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<489::AID-AJMG24>3.0.CO;2-B","volume":"71","author":"EM Arch","year":"1997","unstructured":"Arch EM, Goodman BK, Van Wesep RA, Liaw D, Clarke K, Parsons R, McKusick VA, Geraghty MT (1997) Deletion of PTEN in a patient with Bannayan\u2013Riley\u2013Ruvalcaba syndrome suggests allelism with Cowden disease. Am J Med Genet 71:489\u2013493","journal-title":"Am J Med Genet"},{"issue":"11","key":"115_CR3","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1136\/jmg.2007.052506","volume":"44","author":"S Aretz","year":"2007","unstructured":"Aretz S, Stienen D, Uhlhaas S, Stolte M, Entius MM, Loff S, Back W, Kaufmann A, Keller KM, Blaas SH, Siebert R, Vogt S, Spranger S, Holinski-Feder E, Sunde L, Propping P, Friedl W (2007) High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet 44(11):702\u2013709","journal-title":"J Med Genet"},{"issue":"11","key":"115_CR4","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1038\/ejhg.2008.162","volume":"16","author":"GM Blumenthal","year":"2008","unstructured":"Blumenthal GM, Dennis PA (2008) PTEN hamartoma tumor syndromes. Eur J Hum Genet 16(11):1289\u20131300","journal-title":"Eur J Hum Genet"},{"issue":"10","key":"115_CR5","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1136\/jmg.2008.058131","volume":"45","author":"F Chibon","year":"2008","unstructured":"Chibon F, Primois C, Bressieux JM, Lacombe D, Lok C, Mauriac L, Taieb A, Longy M (2008) Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach. J Med Genet 45(10):657\u2013665","journal-title":"J Med Genet"},{"key":"115_CR6","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1111\/j.1399-0004.2011.01763.x","volume":"81","author":"FS Dahdaleh","year":"2012","unstructured":"Dahdaleh FS, Carr JC, Calva D, Howe JR (2012) Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23. Clin Genet 81:110\u2013116","journal-title":"Clin Genet"},{"issue":"6","key":"115_CR7","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1086\/504301","volume":"78","author":"C Delnatte","year":"2006","unstructured":"Delnatte C, Sanlaville D, Mougenot JF, Vermeesch JR, Houdayer C, Blois MC, Genevieve D, Goulet O, Fryns JP, Jaubert F, Vekemans M, Lyonnet S, Romana S, Eng C, Stoppa-Lyonnet D (2006) Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet 78(6):1066\u20131074","journal-title":"Am J Hum Genet"},{"key":"115_CR8","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<361::AID-AJMG6>3.0.CO;2-W","volume":"70","author":"RF Jacoby","year":"1997","unstructured":"Jacoby RF, Schlack S, Sekhon G, Laxova R (1997) Del(10)(q22.3q24.1) associated with juvenile polyposis. Am J Med Genet 70:361\u2013364","journal-title":"Am J Med Genet"},{"issue":"9","key":"115_CR9","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1136\/jmg.2007.049981","volume":"44","author":"KL Lachlan","year":"2007","unstructured":"Lachlan KL, Lucassen AM, Bunyan D, Temple IK (2007) Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. J Med Genet 44(9):579\u2013585","journal-title":"J Med Genet"},{"issue":"1","key":"115_CR10","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/ng0597-64","volume":"16","author":"D Liaw","year":"1997","unstructured":"Liaw D, Marsh DJ, Li J, Dahia PL, Wang SI, Zheng Z, Bose S, Call KM, Tsou HC, Peacocke M, Eng C, Parsons R (1997) Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 16(1):64\u201367","journal-title":"Nat Genet"},{"issue":"3","key":"115_CR11","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1093\/hmg\/7.3.507","volume":"7","author":"DJ Marsh","year":"1998","unstructured":"Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Dubou\u00e9 B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, LePrat F, Odent S, Toulouse C, Olopade OI, Sobol H, Tishler S, Woods CG, Robinson BG, Weber HC, Parsons R, Peacocke M, Longy M, Eng C (1998) Mutation spectrum and genotype\u2013phenotype analyses in Cowden disease and Bannayan\u2013Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 7(3):507\u2013515","journal-title":"Hum Mol Genet"},{"issue":"8","key":"115_CR12","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1093\/hmg\/8.8.1461","volume":"8","author":"DJ Marsh","year":"1999","unstructured":"Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Tolmie JL, Trebath R, Winter RM, Zackai EH, Zori RT, Weng LP, Dahia PML, Eng C (1999) PTEN mutation spectrum and genotype\u2013phenotype correlations in Bannayan\u2013Riley\u2013Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 8(8):1461\u20131472","journal-title":"Hum Mol Genet"},{"key":"115_CR13","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1399-0004.2008.01026.x","volume":"74","author":"FH Menko","year":"2008","unstructured":"Menko FH, Kneepkens CMF, de Leeuw N, Peeters EA, Van Maldergem L, Kamsteeg EJ, Davidson R, Rozendaal L, Lasham CA, Peeters-Scholte CM, Jansweijer MC, Hilhorst-Hofstee Y, Gille JJ, Heins YM, Nieuwint AW, Sistermans EA (2008) Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes. Clin Genet 74:145\u2013154","journal-title":"Clin Genet"},{"key":"115_CR14","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1086\/507151","volume":"79","author":"L Salviati","year":"2006","unstructured":"Salviati L, Patricelli M, Guariso G, Sturniolo GC, Alaggio R, Bernardi F, Zuffardi O, Tenconi R (2006) Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy. Am J Hum Genet 79:593\u2013596","journal-title":"Am J Hum Genet"},{"key":"115_CR15","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1086\/507152","volume":"79","author":"D Sanlaville","year":"2006","unstructured":"Sanlaville D, Delnatte C, Mougenot JF, Vermeesch JR, Houdayer C, de Blois MC, Genevieve D, Goulet O, Fryns JP, Jaubert F, Vekemans M, Lyonnet S, Romana S, Eng C, Stoppa-Lyonnet D (2006) Reply to Salviati et al. Am J Hum Genet 79:596\u2013597","journal-title":"Am J Hum Genet"},{"issue":"2","key":"115_CR16","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1002\/(SICI)1098-2264(199802)21:2<113::AID-GCC6>3.0.CO;2-3","volume":"21","author":"KD Tsuchiya","year":"1998","unstructured":"Tsuchiya KD, Wiesner G, Cassidy SB, Limwongse C, Boyle JT, Schwartz S (1998) Deletion 10q23.2\u2013q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome. Genes Chromosomes Cancer 21(2):113\u2013118","journal-title":"Genes Chromosomes Cancer"},{"issue":"5","key":"115_CR17","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1053\/gast.1997.v113.pm9352843","volume":"113","author":"AF Zigman","year":"1997","unstructured":"Zigman AF, Lavine JE, Jones MC, Boland CR, Carethers JM (1997) Localization of the Bannayan\u2013Riley\u2013Ruvalcaba syndrome gene to chromosome 10q23. Gastroenterology 113(5):1433\u20131437","journal-title":"Gastroenterology"}],"container-title":["Journal of Applied Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13353-012-0115-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s13353-012-0115-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13353-012-0115-z","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,2]],"date-time":"2019-06-02T15:54:44Z","timestamp":1559490884000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s13353-012-0115-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9,21]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,2]]}},"alternative-id":["115"],"URL":"https:\/\/doi.org\/10.1007\/s13353-012-0115-z","relation":{},"ISSN":["1234-1983","2190-3883"],"issn-type":[{"value":"1234-1983","type":"print"},{"value":"2190-3883","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,9,21]]}}}