{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T01:11:08Z","timestamp":1692753068912},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2009,2,17]],"date-time":"2009-02-17T00:00:00Z","timestamp":1234828800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arch Gynecol Obstet"],"published-print":{"date-parts":[[2009,10]]},"DOI":"10.1007\/s00404-009-0969-4","type":"journal-article","created":{"date-parts":[[2009,2,16]],"date-time":"2009-02-16T11:13:10Z","timestamp":1234782790000},"page":"653-658","source":"Crossref","is-referenced-by-count":4,"title":["Genetic counseling in a case of congenital hemivertebrae"],"prefix":"10.1007","volume":"280","author":[{"given":"Margarita","family":"Alvarez de la Rosa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Isabel","family":"Padilla P\u00e9rez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco Javier","family":"de la Torre Fern\u00e1ndez de Vega","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"L\u00f3pez Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Mario","family":"Troyano Luque","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2009,2,17]]},"reference":[{"key":"969_CR1","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1196\/annals.1402.072","volume":"1117","author":"DL Rimoin","year":"2007","unstructured":"Rimoin DL, Cohn D, Krakow D, Wilcox W, Lachman RS, Alanay Y (2007) The skeletal dysplasias: clinical-molecular correlations. Ann N Y Acad Sci 1117:302\u2013309. doi: 10.1196\/annals.1402.072","journal-title":"Ann N Y Acad Sci"},{"issue":"6","key":"969_CR2","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1097\/00008480-200312000-00012","volume":"15","author":"AS Cornier","year":"2003","unstructured":"Cornier AS, Ramirez N, Carlo S, Reiss A (2003) Controversies surrounding Jarcho\u2013Levin syndrome. Curr Opin Pediatr 15(6):614\u2013620. doi: 10.1097\/00008480-200312000-00012","journal-title":"Curr Opin Pediatr"},{"issue":"5","key":"969_CR3","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1136\/jmg.40.5.333","volume":"40","author":"PD Turnpenny","year":"2003","unstructured":"Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S (2003) Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. J Med Genet 40(5):333\u2013339. doi: 10.1136\/jmg.40.5.333","journal-title":"J Med Genet"},{"issue":"3","key":"969_CR4","first-page":"412","volume":"81","author":"CM Zelop","year":"1993","unstructured":"Zelop CM, Pretorius DH, Benacerraf BR (1993) Fetal hemivertebrae: associated anomalies, significance, and outcome. Obstet Gynecol 81(3):412\u2013416","journal-title":"Obstet Gynecol"},{"issue":"6","key":"969_CR5","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1002\/dvdy.21182","volume":"236","author":"PD Turnpenny","year":"2007","unstructured":"Turnpenny PD, Alman B, Cornier AS, Giampietro PF, Offiah A, Tassy O et al (2007) Abnormal vertebral segmentation and the notch signaling pathway in man. Dev Dyn 236(6):1456\u20131474. doi: 10.1002\/dvdy.21182","journal-title":"Dev Dyn"},{"issue":"4","key":"969_CR6","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1002\/(SICI)1096-8628(19960202)61:4<310::AID-AJMG3>3.0.CO;2-Y","volume":"61","author":"GR Mortier","year":"1996","unstructured":"Mortier GR, Lachman RS, Bocian M, Rimoin DL (1996) Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. Am J Med Genet 61(4):310\u2013319. doi: 10.1002\/(SICI)1096-8628(19960202)61:4<310::AID-AJMG3>3.0.CO;2-Y","journal-title":"Am J Med Genet"},{"issue":"1","key":"969_CR7","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1002\/ajmg.1320490109","volume":"49","author":"ML Martinez-Frias","year":"1994","unstructured":"Martinez-Frias ML, Urioste M (1994) Segmentation anomalies of the vertebras and ribs: a developmental field defect: epidemiologic evidence. Am J Med Genet 49(1):36\u201344. doi: 10.1002\/ajmg.1320490109","journal-title":"Am J Med Genet"},{"issue":"7","key":"969_CR8","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1002\/pd.643","volume":"23","author":"NV Whittock","year":"2003","unstructured":"Whittock NV, Turnpenny PD, Tuerlings J, Ellard S (2003) Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis. Prenat Diagn 23(7):575\u2013579. doi: 10.1002\/pd.643","journal-title":"Prenat Diagn"},{"key":"969_CR9","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1016\/S0022-3476(66)80304-9","volume":"69","author":"NW Lavy","year":"1966","unstructured":"Lavy NW, Palmer CG, Merrit AD (1966) A syndrome of bizarre vertebral anomalies. J Pediatr 69:1121\u20131125. doi: 10.1016\/S0022-3476(66)80304-9","journal-title":"J Pediatr"},{"issue":"4","key":"969_CR10","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1016\/0002-9378(87)90354-1","volume":"156","author":"JJ Apuzzio","year":"1987","unstructured":"Apuzzio JJ, Diamond N, Ganesh V, Desposito F (1987) Difficulties in the prenatal diagnosis of Jarcho\u2013Levin syndrome. Am J Obstet Gynecol 156(4):916\u2013918","journal-title":"Am J Obstet Gynecol"},{"issue":"5","key":"969_CR11","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1002\/uog.2769","volume":"27","author":"GY Wong","year":"2006","unstructured":"Wong GY, Wong SF, Chan WP, Ng WF (2006) Three-dimensional ultrasound findings of spondylocostal dysostosis in the second trimester of pregnancy. Ultrasound Obstet Gynecol 27(5):580\u2013582. doi: 10.1002\/uog.2769","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"3","key":"969_CR12","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1007\/BF02825493","volume":"73","author":"ML Kulkarni","year":"2006","unstructured":"Kulkarni ML, Navaz SR, Vani HN, Manjunath KS, Matani D (2006) Jarcho\u2013Levin syndrome. Indian J Pediatr 73(3):245\u2013247. doi: 10.1007\/BF02825493","journal-title":"Indian J Pediatr"},{"issue":"5","key":"969_CR13","first-page":"407","volume":"17","author":"ME Lawson","year":"1997","unstructured":"Lawson ME, Share J, Benacerraf B, Krauss CM (1997) Jarcho\u2013Levin syndrome: prenatal diagnosis, perinatal care, and follow-up of siblings. J Perinatol 17(5):407\u2013409","journal-title":"J Perinatol"},{"issue":"4","key":"969_CR14","first-page":"201","volume":"102","author":"L Solomon","year":"1978","unstructured":"Solomon L, Jimenez RB, Reiner L (1978) Spondylothoracic dysostosis: report of two cases and review of the literature. Arch Pathol Lab Med 102(4):201\u2013205","journal-title":"Arch Pathol Lab Med"},{"issue":"1","key":"969_CR15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.a.31483","volume":"143","author":"A Superti-Furga","year":"2007","unstructured":"Superti-Furga A, Unger S (2007) Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A 143(1):1\u201318. doi: 10.1002\/ajmg.a.31483","journal-title":"Am J Med Genet A"},{"issue":"5","key":"969_CR16","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1002\/pd.67","volume":"21","author":"AD Hull","year":"2001","unstructured":"Hull AD, James G, Pretorius DH (2001) Detection of Jarcho\u2013Levin syndrome at 12\u00a0weeks\u2019 gestation by nuchal translucency screening and three-dimensional ultrasound. Prenat Diagn 21(5):390\u2013394. doi: 10.1002\/pd.67","journal-title":"Prenat Diagn"},{"issue":"1","key":"969_CR17","doi-asserted-by":"crossref","first-page":"1","DOI":"10.7863\/jum.1989.8.1.1","volume":"8","author":"F Marks","year":"1989","unstructured":"Marks F, Hernanz-Schulman M, Horii S, Greenland VC, Lustig I, Snyder J et al (1989) Spondylothoracic dysplasia. Clinical and sonographic diagnosis. J Ultrasound Med 8(1):1\u20135","journal-title":"J Ultrasound Med"},{"issue":"2","key":"969_CR18","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1159\/000082438","volume":"20","author":"M del Rio Holgado","year":"2005","unstructured":"del Rio Holgado M, Martinez JM, Gomez O, Casals G, Bargallo N, Fortuny A et al (2005) Ultrasonographic diagnosis of Jarcho\u2013Levin syndrome at 20\u00a0weeks\u2019 gestation in a fetus without previous family history. Fetal Diagn Ther 20(2):136\u2013140. doi: 10.1159\/000082438","journal-title":"Fetal Diagn Ther"},{"issue":"2","key":"969_CR19","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1159\/000082435","volume":"20","author":"I Goldstein","year":"2005","unstructured":"Goldstein I, Makhoul IR, Weissman A, Drugan A (2005) Hemivertebra: prenatal diagnosis, incidence and characteristics. Fetal Diagn Ther 20(2):121\u2013126. doi: 10.1159\/000082435","journal-title":"Fetal Diagn Ther"},{"issue":"13","key":"969_CR20","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1097\/01.BRS.0000128761.72844.AB","volume":"29","author":"M Teli","year":"2004","unstructured":"Teli M, Hosalkar H, Gill I, Noordeen H (2004) Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means. Spine 29(13):1447\u20131451. doi: 10.1097\/01.BRS.0000128761.72844.AB","journal-title":"Spine"},{"key":"969_CR21","doi-asserted-by":"crossref","unstructured":"Imaizumi K, Masuno M, Ishii T, Kuroki Y, Okuzumi N, Nakamura Y (1997) Congenital scoliosis (hemivertebra) associated with de novo balanced reciprocal translocation, 46,XX,t(13;17)(q34;p11.2). Am J Med Genet 73(3):244\u2013246. doi: 10.1002\/(SICI)1096-8628(19971219)73:3<244::AID-AJMG2>3.0.CO;2-S","DOI":"10.1002\/(SICI)1096-8628(19971219)73:3<244::AID-AJMG2>3.0.CO;2-S"},{"issue":"7","key":"969_CR22","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.7863\/jum.2008.27.7.1023","volume":"27","author":"JR Wax","year":"2008","unstructured":"Wax JR, Watson WJ, Miller RC, Ingardia CJ, Pinette MG, Cartin A et al (2008) Prenatal sonographic diagnosis of hemivertebrae: associations and outcomes. J Ultrasound Med 27(7):1023\u20131027","journal-title":"J Ultrasound Med"},{"issue":"4","key":"969_CR23","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1002\/ajmg.1320240403","volume":"24","author":"S Ayme","year":"1986","unstructured":"Ayme S, Preus M (1986) Spondylocostal\/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling. Am J Med Genet 24(4):599\u2013606. doi: 10.1002\/ajmg.1320240403","journal-title":"Am J Med Genet"}],"container-title":["Archives of Gynecology and Obstetrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00404-009-0969-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00404-009-0969-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00404-009-0969-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T17:53:48Z","timestamp":1559066028000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00404-009-0969-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2,17]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,10]]}},"alternative-id":["969"],"URL":"https:\/\/doi.org\/10.1007\/s00404-009-0969-4","relation":{},"ISSN":["0932-0067","1432-0711"],"issn-type":[{"value":"0932-0067","type":"print"},{"value":"1432-0711","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2,17]]}}}