Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest
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Title
Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest
Authors
Keywords
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Journal
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2022-01-29
DOI
10.1007/s10815-022-02412-4
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Related references
Note: Only part of the references are listed.- Genetic factors as potential molecular markers of human oocyte and embryo quality
- (2021) Qing Sang et al. JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
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- (2020) Zhihua Zhang et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- Expanding the genetic and phenotypic spectrum of the subcortical maternal complex genes in recurrent preimplantation embryonic arrest
- (2020) Wei Zheng et al. CLINICAL GENETICS
- A new NLRP5 mutation causes female infertility and total fertilization failure
- (2020) Mingzhao Li et al. GYNECOLOGICAL ENDOCRINOLOGY
- Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest
- (2019) Jian Mu et al. JOURNAL OF MEDICAL GENETICS
- Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility
- (2019) Ling Wu et al. JOURNAL OF HUMAN GENETICS
- The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype
- (2019) Angela Sparago et al. Clinical Epigenetics
- PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice
- (2018) Marie Christou‐Kent et al. EMBO Molecular Medicine
- Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrest
- (2018) Lingli Huang et al. HUMAN REPRODUCTION
- Patients with a high proportion of immature and meiotically resistant oocytes experience defective nuclear oocyte maturation patterns and impaired pregnancy outcomes
- (2018) Yuechao Lu et al. REPRODUCTIVE BIOMEDICINE ONLINE
- Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest
- (2016) Yao Xu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in TUBB8 and Human Oocyte Meiotic Arrest
- (2016) Ruizhi Feng et al. NEW ENGLAND JOURNAL OF MEDICINE
- Human oocyte developmental potential is predicted by mechanical properties within hours after fertilization
- (2016) Livia Z. Yanez et al. Nature Communications
- Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
- (2015) Louise E. Docherty et al. Nature Communications
- Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte
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- Maternal control of early mouse development
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- Oocyte maturation failure: a syndrome of bad eggs
- (2010) Stephanie Beall et al. FERTILITY AND STERILITY
- In vitro maturation for patients with repeated in vitro fertilization failure due to “oocyte maturation abnormalities”
- (2009) Ariel Hourvitz et al. FERTILITY AND STERILITY
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