标题
Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles
作者
关键词
-
出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 26, Issue 7, Pages 1007-1013
出版商
Springer Nature
发表日期
2018-04-23
DOI
10.1038/s41431-018-0141-3
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- A Maternal Functional Module in the Mammalian Oocyte-To-Embryo Transition
- (2017) Xukun Lu et al. TRENDS IN MOLECULAR MEDICINE
- Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest
- (2016) Yao Xu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The human knockout phenotype ofPADI6is female sterility caused by cleavage failure of their fertilized eggs
- (2016) S. Maddirevula et al. CLINICAL GENETICS
- Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
- (2015) Louise E. Docherty et al. Nature Communications
- NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton
- (2014) Elie Akoury et al. HUMAN REPRODUCTION
- Comprehensive genotype–phenotype correlations betweenNLRP7mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation
- (2014) Ngoc Minh Phuong Nguyen et al. JOURNAL OF MEDICAL GENETICS
- Identification of a human subcortical maternal complex
- (2014) K. Zhu et al. MOLECULAR HUMAN REPRODUCTION
- Recurrent Pregnancy Loss in a Woman With NLRP7 Mutation
- (2013) Lucia Brown et al. INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY
- Histopathological features of biparental complete hydatidiform moles in women with NLRP7 mutations
- (2012) N.J. Sebire et al. PLACENTA
- Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte
- (2011) David A. Parry et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A strong founder effect for twoNLRP7mutations in the Indian population: an intriguing observation
- (2009) R Slim et al. CLINICAL GENETICS
- Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)
- (2009) Esther Meyer et al. PLoS Genetics
- Role for PADI6 and the cytoplasmic lattices in ribosomal storage in oocytes and translational control in the early mouse embryo
- (2008) P. Yurttas et al. DEVELOPMENT
- A Subcortical Maternal Complex Essential for Preimplantation Mouse Embryogenesis
- (2008) Lei Li et al. DEVELOPMENTAL CELL
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreDiscover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversation