Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include p...
Jacobsen综合征患者11号长臂末端缺失范围不定,胎儿受累系统显示的异常变异也大,因此,孕早、中期常规的产前筛查对Jacobsen综合征的确诊意义很大。 【参考文献】 [1]Mattina T, Perrotta CS, Grossfeld P: Jacobsen syndrome[J]. Orphanet J Rare Dis,2009, 4:9. [2]L...
Orphanet http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=584&Disease_Disease_Search_diseaseGroup=Silver-Russell-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Silver-Russell-syndrome&title=Silver-Russell-syndrome&search=Disease_Search_Simple (...
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Christiansen M, Tonder N, Larsen LA, Andersen PS, Simonsen H, Oyen N, Kanters JK, Jacobsen JR, Fosdal I, Wettrell G, Kjeldsen K: Mutations in the HERG K + -ion channel: a novel link between long QT syndrome and sudden infant death syndrome. Am J Cardiol. 2005, 95 (3): ...
Jacobsen syndrome. Orphanet J. Rare Dis. 2009, 4, 9. [Google Scholar] [CrossRef] [Green Version] Favier, R.; Akshoomoff, N.; Mattson, S.; Grossfeld, P. Jacobsen syndrome: Advances in our knowledge of phenotype and genotype. Am. J. Med. Genet. Part C Semin. Med. Genet. 2015, ...
Kozyraki, R.; Kristiansen, M.; Silahtaroglu, A.; Hansen, C.; Jacobsen, C.; Tommerup, N.; Verroust, P.J.; Moestrup, S.K. The Human Intrinsic Factor-Vitamin B12 Receptor, Cubilin: Molecular Characterization and Chromosomal Mapping of the Gene to 10p within the Autosomal Recessive Mega...
Kozyraki, R.; Kristiansen, M.; Silahtaroglu, A.; Hansen, C.; Jacobsen, C.; Tommerup, N.; Verroust, P.J.; Moestrup, S.K. The Human Intrinsic Factor-Vitamin B12 Receptor, Cubilin: Molecular Characterization and Chromosomal Mapping of the Gene to 10p within the Autosomal Recessive Mega...