{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T04:25:37Z","timestamp":1791087937495,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":1708,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2011,3]]},"DOI":"10.1002\/ajmg.b.31147","type":"journal-article","created":{"date-parts":[[2010,12,28]],"date-time":"2010-12-28T09:29:18Z","timestamp":1293528558000},"page":"225-232","source":"Crossref","is-referenced-by-count":39,"title":["Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family"],"prefix":"10.1002","volume":"156","author":[{"given":"Yiping","family":"Shen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoli","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liwen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianliang","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"An","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haitao","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanli","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruolei","family":"Xin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yihua","family":"Bao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Gusella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bai-Lin","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,12,28]]},"reference":[{"issue":"2-3","key":"10.1002\/ajmg.b.31147-BIB1|cit2","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.ejmg.2009.03.006","article-title":"Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals","volume":"52","author":"Bijlsma","year":"2009","journal-title":"Eur J Med Genet"},{"issue":"7281","key":"10.1002\/ajmg.b.31147-BIB2|cit3","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1038\/nature08689","article-title":"Large, rare chromosomal deletions associated with severe early-onset obesity","volume":"463","author":"Bochukova","year":"2010","journal-title":"Nature"},{"issue":"9","key":"10.1002\/ajmg.b.31147-BIB3|cit4","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1097\/BRS.0b013e3181bc963c","article-title":"The association analysis of TBX6 polymorphism with susceptibility to congenital scoliosis in a Chinese Han population","volume":"35","author":"Fei","year":"2010","journal-title":"Spine (Phila., PA 1976)"},{"issue":"3","key":"10.1002\/ajmg.b.31147-BIB4|cit5","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1136\/jmg.2009.069369","article-title":"Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder","volume":"47","author":"Fernandez","year":"2010","journal-title":"J Med Genet"},{"issue":"13","key":"10.1002\/ajmg.b.31147-BIB5|cit6","doi-asserted-by":"crossref","first-page":"1462","DOI":"10.1002\/ajmg.a.31837","article-title":"A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation","volume":"143A","author":"Ghebranious","year":"2007","journal-title":"Am J Med Genet Part A"},{"issue":"5","key":"10.1002\/ajmg.b.31147-BIB6|cit7","doi-asserted-by":"crossref","first-page":"E24","DOI":"10.1136\/jmg.39.5.e24","article-title":"Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations","volume":"39","author":"Hernando","year":"2002","journal-title":"J Med Genet"},{"key":"10.1002\/ajmg.b.31147-BIB7|cit8","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1093\/hmg\/ddm376","article-title":"Recurrent 16p11.2 microdeletions in autism","volume":"17","author":"Kumar","year":"2008","journal-title":"Hum Mol Genet"},{"issue":"2","key":"10.1002\/ajmg.b.31147-BIB8|cit9","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/j.ajhg.2007.12.009","article-title":"Structural variation of chromosomes in autism spectrum disorder","volume":"82","author":"Marshall","year":"2008","journal-title":"Am J Hum Genet"},{"issue":"3","key":"10.1002\/ajmg.b.31147-BIB9|cit10","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.gde.2009.04.003","article-title":"Duplication hotspots, rare genomic disorders, and common disease","volume":"19","author":"Mefford","year":"2009","journal-title":"Curr Opin Genet Dev"},{"issue":"2","key":"10.1002\/ajmg.b.31147-BIB10|cit11","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1136\/jmg.2005.032268","article-title":"Array-CGH detection of micro rearrangements in mentally retarded individuals: Clinical significance of imbalances present both in affected children and normal parents","volume":"43","author":"Rosenberg","year":"2006","journal-title":"J Med Genet"},{"issue":"1","key":"10.1002\/ajmg.b.31147-BIB11|cit12","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1007\/s11689-009-9037-4","article-title":"Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications","volume":"2","author":"Rosenfeld","year":"2010","journal-title":"J Neurodevelop Disord"},{"issue":"5823","key":"10.1002\/ajmg.b.31147-BIB12|cit13","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1126\/science.1138659","article-title":"Strong association of de novo copy number mutations with autism","volume":"316","author":"Sebat","year":"2007","journal-title":"Science"},{"issue":"4","key":"10.1002\/ajmg.b.31147-BIB13|cit14","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1373\/clinchem.2008.112821","article-title":"Microarray-based genomic DNA profiling technologies in clinical molecular diagnostics","volume":"55","author":"Shen","year":"2009","journal-title":"Clin Chem"},{"issue":"12","key":"10.1002\/ajmg.b.31147-BIB14|cit15","doi-asserted-by":"crossref","first-page":"2051","DOI":"10.1373\/clinchem.2007.090290","article-title":"Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance","volume":"53","author":"Shen","year":"2007","journal-title":"Clin Chem"},{"issue":"6","key":"10.1002\/ajmg.b.31147-BIB15|cit16","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/j.ejmg.2009.09.007","article-title":"A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae","volume":"52","author":"Shimojima","year":"2009","journal-title":"Eur J Med Genet"},{"issue":"5","key":"10.1002\/ajmg.b.31147-BIB16|cit17","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1136\/jmg.2009.073015","article-title":"Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioral problems, dysmorphism, epilepsy, and abnormal head size","volume":"47","author":"Shinawi","year":"2010","journal-title":"J Med Genet"},{"issue":"1","key":"10.1002\/ajmg.b.31147-BIB17|cit18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00439-008-0513-9","article-title":"Novel microdeletion syndromes detected by chromosome microarrays","volume":"124","author":"Slavotinek","year":"2008","journal-title":"Hum Genet"},{"issue":"7210","key":"10.1002\/ajmg.b.31147-BIB18|cit19","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1038\/nature07229","article-title":"Large recurrent microdeletions associated with schizophrenia","volume":"455","author":"Stefansson","year":"2008","journal-title":"Nature"},{"issue":"2","key":"10.1002\/ajmg.b.31147-BIB19|cit20","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1038\/sj.ejhg.5200937","article-title":"Familial juvenile hyperuricaemic nephropathy (FJHN): Linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes","volume":"11","author":"Stib\u016frkov\u00e1","year":"2003","journal-title":"Eur J Hum Genet"},{"issue":"7281","key":"10.1002\/ajmg.b.31147-BIB20|cit21","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1038\/nature08727","article-title":"A new highly penetrant form of obesity due to deletions on chromosome 16p11.2","volume":"463","author":"Walters","year":"2010","journal-title":"Nature"},{"key":"10.1002\/ajmg.b.31147-BIB21|cit22","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1056\/NEJMoa075974","article-title":"Association between microdeletion and microduplication at 16p11.2 and autism","volume":"358","author":"Weiss","year":"2008","journal-title":"N Engl J Med"}],"container-title":["American Journal of Medical Genetics Part B: Neuropsychiatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.b.31147","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/ajmg.b.31147\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T16:29:53Z","timestamp":1625070593000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.31147"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,12,28]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2011,3]]}},"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.31147","relation":{},"ISSN":["1552-4841"],"issn-type":[{"value":"1552-4841","type":"print"}],"subject":[],"published":{"date-parts":[[2010,12,28]]}}}