[1]张晓妍.2个非血缘关系家系的3例CPHD的PROP1基因缺失研究[J].医学信息,2019,(07):191-192.[doi:10.3969/j.issn.1006-1959.2019.07.063]
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2个非血缘关系家系的3例CPHD的PROP1基因缺失研究()
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医学信息[ISSN:1006-1959/CN:61-1278/R]

卷:
期数:
2019年07期
页码:
191-192
栏目:
疑难病案
出版日期:
2019-04-01

文章信息/Info

文章编号:
1006-1959(2019)07-0191-02
作者:
张晓妍
(广东康怡司法鉴定中心,广东 东莞 523039)
关键词:
垂体激素缺乏症PROP1生长激素促甲状腺激素催乳素
分类号:
R730
DOI:
10.3969/j.issn.1006-1959.2019.07.063
文献标志码:
B

参考文献/References:


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[2]姜宇,周仁华,曾水林,等.垂体同源盒家族因子3和孤儿核受体相关因子1基因在帕金森病模型大鼠腹侧中脑表达显著下调[J].神经解剖学杂志,2016,32(2):257-261.
[3]滕晓春,金婷,王冉冉,等.一例TRβ基因P453T突变所致的甲状腺激素抵抗综合征合并垂体TSH微腺瘤的病例报告[J].中华内分泌代谢杂志,2016,32(1):19-23.
[4]王翼.2个家系的PROP1基因缺失研究[D].上海交通大学,2008.
[5]衡文娜,郭春华,张晓晖,等.PROP1与联合垂体激素缺乏症[J].生物学杂志,2007,24(2):1-4.
[6]韩白玉,李乐乐,王成芷,等.垂体柄中断综合征与前动力蛋白受体2和前动力蛋白2基因突变的相关性分析[J].中国医学科学院学报,2016,38(1):37-41.
[7]Osorio MG,Kopp P,Marui S,et al.Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1[J].Journal of Clinical Endocrinology & Metabolism,2000,85(8):2779-2785.
[8]Birla S,Khadgawat R,Jyotsna V,et al.Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency[J].Hormone & Metabolic Research,2016,48(12):822-827.
[9]Ziemnicka K,Budny B,Drobnik K,et al.Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency[J].Journal of Applied Genetics,2016,57(3):373-381.
[10]Dusatkova P,Pf?ffle R,Brown MR,et al.Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations[J].European Journal of Human Genetics Ejhg,2016,24(3):415.
[11]Chaudhary DP,Rijal T,Jha KK,et al.PROP1 gene mutations in a 36-year-old female presenting with psychosis[J].Endocrinol Diabetes Metab Case Rep,2017,2017(1):16-96.
[12]Madeira JL,Nishi MY,Nakaguma M,et al.Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations[J].Clinical Endocrinology,2017,87(6):725-732.
[13]Giordano M.Genetic causes of isolated and combined pituitary hormone deficiency[J].Best Practice & Research Clinical Endocrinology & Metabolism,2016,30(6):679.
[14]Rienzo FD,Mellone S,Bellone S,et al.Frequency of genetic defects in Combined Pituitary Hormone Deficiency: a systematic review and analysis of a multicentre Italian cohort[J].Clinical Endocrinology,2016,83(6):849-860.

更新日期/Last Update: 2019-04-01