[1]陈娜,朱兰*.女性下生殖道畸形的遗传学研究新进展[J].中国计划生育和妇产科,2020,(3):3-5,8.
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女性下生殖道畸形的遗传学研究新进展
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《中国计划生育和妇产科》[ISSN:1674-4020/CN:51-1708/R]

卷:
期数:
2020年3期
页码:
3-5,8
栏目:
女性生殖器官发育异常诊治专题
出版日期:
2020-03-25

文章信息/Info

作者:
陈娜朱兰*
中国医学科学院北京协和医院妇产科
关键词:
女性下生殖道畸形遗传学研究进展
分类号:
R711.1

参考文献/References:

[1]Choussein S , Nasioudis D , Schizas D , et al. Mullerian dysgenesis: a critical review of the literature[J]. Archives of Gynecology & Obstetrics, 2017, 295(6):1369-1381. [2]Siobhán T. Pittock, Dusica Babovic‐Vuksanovic, Lteif A . Mayer–Rokitansky–Küster–Hauser anomaly and its associated malformations [J]. American Journal of Medical Genetics Part A, 2005, 135a. [3]Nik-Zainal S , Strick R , Storer M , et al. High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia[J]. Journal of Medical Genetics, 2011, 48(3):197-204. [4]Zufferey F , Sherr E H , Beckmann N D , et al. A 600 kb deletion syndrome at 16p112 leads to energy imbalance and neuropsychiatric disorders [J]. Journal of Medical Genetics, 2012, 49(10):660-668. [5]Clissold R L , Hamilton A J , Hattersley A T , et al. HNF1B-associated renal and extra-renal disease - An expanding clinical spectrum[J]. Nature Reviews Nephrology, 2014, 11(2). [6]Chen YZ, Gao Q, Zhao XZ, et al. Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5 [J]. Chin Med J (Engl) 2010,123(22):3326-3333. [7]Oram R A , Edghill E L , Blackman J , et al. Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations [J]. American Journal of Obstetrics & Gynecology, 2010, 203(4):3640. [8]Scambler P J . The 22q11 deletion syndromes [J]. Human Molecular Genetics,2000,9:2421-2426. [9]Fontana L , Gentilin B , Fedele L , et al. Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome [J]. Clinical Genetics, 2017,91:233-46. [10]Virginia S , Morgan E A , Scott S H . Genitourinary Functions of Hoxa13 and Hoxd13 [J]. Journal of Biochemistry,2005,137(6):671-676. [11]Poznanski A K , Stern A M , Gall J C . Radiographic findings in the Hand-Foot-Uterus Syndrome (HFUS) [J]. Radiology, 1970, 95(1):129-134. [12]Pascal Philibert, Anna Biason-Lauber, Iva Gueorguieva,等. Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical MayerRokitansky-Küster-Hauser syndrome) [J]. Fertil Steril,2011,30 (8): 2683–2686.

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更新日期/Last Update: 2020-03-25