5.9Mb microdeletion in chromosome band 17q22–q23.2 associated with tracheo-esophageal fistula and conductive hearing loss
Tài liệu tham khảo
Celli, 2000, Familial syndromic esophageal atresia maps to 2p23–p24, Am. J. Hum. Genet., 66, 436, 10.1086/302779
Dallapiccola, 1993, Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome, Clin. Genet., 43, 54, 10.1111/j.1399-0004.1993.tb04452.x
Felix, 2007, Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula, Eur. J. Med. Genet., 50, 163, 10.1016/j.ejmg.2006.12.004
Gardner, 2006, Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up, Pediatrics, 118, 985, 10.1542/peds.2005-2519
Hirshoren, 2008, P35S mutation in the NOG gene associated with Teunissen–Cremers syndrome and features of multiple NOG joint-fusion syndromes, Eur. J. Med. Genet., 51, 351, 10.1016/j.ejmg.2008.02.008
Hwu, 2005, Mapping of psoriasis to 17q terminus, J. Med. Genet., 42, 152, 10.1136/jmg.2004.018564
Khalifa, 1993, Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype, Clin. Genet., 44, 258, 10.1111/j.1399-0004.1993.tb03893.x
Levin, 1995, Unique de novo interstitial deletion of chromosome 17, del(17)(q23.2q24.3) in a female newborn with multiple congenital anomalies, Am. J. Med. Genet., 55, 30, 10.1002/ajmg.1320550110
Luo, 1996, Compound mutants for retinoic acid receptor (RAR) beta and RAR alpha 1 reveal developmental functions for multiple RAR beta isoforms, Mech. Dev., 55, 33, 10.1016/0925-4773(95)00488-2
Marsh, 2000, Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia, J. Med. Genet., 37, 701, 10.1136/jmg.37.9.701
Mickelson, 1997, Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24), Am. J. Med. Genet., 71, 275, 10.1002/(SICI)1096-8628(19970822)71:3<275::AID-AJMG5>3.0.CO;2-T
Park, 1992, A unique de novo interstitial deletion del(17)(q21.3q23) in a phenotypically abnormal infant, Clin. Genet., 41, 54, 10.1111/j.1399-0004.1992.tb03631.x
Shimizu, 2008, Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism, Am. J. Med. Genet., 146A, 1458, 10.1002/ajmg.a.32319
Thomas, 1996, Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q, Am. J. Med. Genet., 62, 372, 10.1002/(SICI)1096-8628(19960424)62:4<372::AID-AJMG9>3.0.CO;2-T
van den Ende, 2005, The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene, Clin. Dysmorphol., 14, 73, 10.1097/00019605-200504000-00004