Beckwith-Wiedemann syndrome and the insulin-like growth factor-II gene. Does the genotype explain the phenotype?
作者信息
Witte D P, Bove K E
机构信息
Department of Pathology, Children's Hospital Medical Center, Cincinnati, OH 45229.
出版信息
Am J Pathol. 1994 Oct;145(4):762-5.
Abstract
摘要
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[FAMILIAL MALFORMATION COMPLEX WITH UMBILICAL HERNIA AND MACROGLOSSIA--A "NEW SYNDROME"?].[伴有脐疝和巨舌症的家族性畸形综合征——一种“新综合征”？]
J Genet Hum. 1964 Sep;13:223-32.
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IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Wiedemann syndrome.胰岛素样生长因子2（IGF2）在人类胚胎发育过程以及贝克威思-维德曼综合征中呈现亲本印记。
Nat Genet. 1993 May;4(1):94-7. doi: 10.1038/ng0593-94.
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Igf2r and Igf2 gene expression in androgenetic, gynogenetic, and parthenogenetic preimplantation mouse embryos: absence of regulation by genomic imprinting.孤雄生殖、孤雌生殖和单性生殖的植入前小鼠胚胎中Igf2r和Igf2基因表达：不受基因组印记调控。
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Developmental regulation of genomic imprinting of the IGF2 gene in human liver.人类肝脏中IGF2基因基因组印记的发育调控
Cancer Res. 1994 May 15;54(10):2560-2.
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Biological actions of IGFs in mammalian development.胰岛素样生长因子在哺乳动物发育中的生物学作用。
Bioessays. 1994 Jan;16(1):55-7. doi: 10.1002/bies.950160109.
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Genomic imprinting: mechanism and role in human pathology.基因组印记：机制及其在人类病理学中的作用。
Am J Pathol. 1994 Mar;144(3):431-43.
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Parental genomic imprinting of the human IGF2 gene.人类胰岛素样生长因子2（IGF2）基因的亲本基因组印记
Nat Genet. 1993 May;4(1):98-101. doi: 10.1038/ng0593-98.
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Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia.人类染色体区域11p15.3 - pter的亲本印记与贝克威思-维德曼综合征及多种人类肿瘤形成有关。
Eur J Hum Genet. 1994;2(1):3-23. doi: 10.1159/000472337.
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Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome.染色体区域11p15上等位基因的功能性拷贝过量可能会导致威德曼-贝克威思综合征（EMG）。
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