{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T12:39:22Z","timestamp":1700570362251},"reference-count":16,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2004,4,1]],"date-time":"2004-04-01T00:00:00Z","timestamp":1080777600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annales de G\u00e9n\u00e9tique"],"published-print":{"date-parts":[[2004,4]]},"DOI":"10.1016\/j.anngen.2004.02.004","type":"journal-article","created":{"date-parts":[[2004,2,28]],"date-time":"2004-02-28T10:30:55Z","timestamp":1077964255000},"page":"191-197","source":"Crossref","is-referenced-by-count":5,"title":["Unbalanced translocation 8;Y (45,X,dic(Y;8)(q11.23;p23.1)): case report and review of terminal 8p deletions"],"prefix":"10.1016","volume":"47","author":[{"given":"K.","family":"Bosse","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Eggermann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Van der Ven","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Raff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Engels","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Schwanitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.anngen.2004.02.004_BIB1","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1002\/(SICI)1097-0223(199909)19:9<863::AID-PD640>3.0.CO;2-I","article-title":"Prenatal detection and mapping of a distal 8p deletion associated with congenital heart disease","volume":"19","author":"Bhatia","year":"1999","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.anngen.2004.02.004_BIB2","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1136\/jmg.27.5.327","article-title":"Partial monosomy 8p with minimal dysmorphic signs","volume":"127","author":"Blennow","year":"1990","journal-title":"J Med Genet"},{"key":"10.1016\/j.anngen.2004.02.004_BIB3","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1002\/(SICI)1096-8628(19970919)74:5<515::AID-AJMG12>3.0.CO;2-F","article-title":"A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8","volume":"74","author":"Claeys","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.anngen.2004.02.004_BIB4","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1002\/(SICI)1096-8628(19980217)75:5<534::AID-AJMG15>3.0.CO;2-L","article-title":"Deletion 8p syndrome","volume":"75","author":"Digilio","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.anngen.2004.02.004_BIB5","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1007\/s004390050660","article-title":"Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies","volume":"102","author":"Delobel","year":"1998","journal-title":"Hum Genet"},{"key":"10.1016\/j.anngen.2004.02.004_BIB6","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1002\/(SICI)1097-0223(199801)18:1<65::AID-PD207>3.0.CO;2-4","article-title":"Prenatal diagnosis of a terminal short arm deletion of chromosome 8\u00a0in a fetus with an atrioventricular septal defect","volume":"18","author":"Devriendt","year":"1998","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.anngen.2004.02.004_BIB7","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1002\/ajmg.1182","article-title":"Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13)","volume":"99","author":"de Vries","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.anngen.2004.02.004_BIB8","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1002\/ajmg.1320220114","article-title":"Deficiency of chromosome 8p21.1-->8pter: case report and review of the literature","volume":"22","author":"Dobyns","year":"1985","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.anngen.2004.02.004_BIB9","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1002\/(SICI)1097-0223(1998100)18:10<1055::AID-PD405>3.0.CO;2-I","article-title":"Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature","volume":"18","author":"Faivre","year":"1998","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.anngen.2004.02.004_BIB10","first-page":"213","article-title":"Clinical manifestation of Y\/autosome translocation in man","volume":"6B","author":"Fryns","year":"1985"},{"key":"10.1016\/j.anngen.2004.02.004_BIB11","first-page":"477","article-title":"A 45,X male with Y-specific DNA translocated onto chromosome 15","volume":"40","author":"Gal","year":"1987","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.anngen.2004.02.004_BIB12","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1038\/nature01827","article-title":"GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5","volume":"424","author":"Garg","year":"2003","journal-title":"Nature"},{"key":"10.1016\/j.anngen.2004.02.004_BIB13","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1002\/ajmg.1320530204","article-title":"Phenotype\/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases","volume":"53","author":"Hsu","year":"1994","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.anngen.2004.02.004_BIB14","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1159\/000134194","article-title":"Assignment of the human GATA4 gene to 8p23.1-->p22 using fluorescence in situ hybridization analysis","volume":"72","author":"Huang","year":"1996","journal-title":"Cytogenet Cell Genet"},{"key":"10.1016\/j.anngen.2004.02.004_BIB15","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1136\/jmg.32.9.711","article-title":"Clinical features of nine males with molecularly defined deletions of the Y chromosome long arm","volume":"32","author":"Salo","year":"1995","journal-title":"J Med Genet"},{"key":"10.1016\/j.anngen.2004.02.004_BIB16","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1002\/ajmg.1320460319","article-title":"Case of (Y;1) familial translocation","volume":"46","author":"Teyssier","year":"1993","journal-title":"Am J Med Genet"}],"container-title":["Annales de G\u00e9n\u00e9tique"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003399504000061?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003399504000061?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,2,14]],"date-time":"2019-02-14T23:20:03Z","timestamp":1550186403000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0003399504000061"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,4]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,4]]}},"alternative-id":["S0003399504000061"],"URL":"https:\/\/doi.org\/10.1016\/j.anngen.2004.02.004","relation":{},"ISSN":["0003-3995"],"issn-type":[{"value":"0003-3995","type":"print"}],"subject":[],"published":{"date-parts":[[2004,4]]}}}