Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest

Genetic factors as potential molecular markers of human oocyte and embryo quality

(2021) Qing Sang et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Bi-allelic Missense Pathogenic Variants in TRIP13Cause Female Infertility Characterized by Oocyte Maturation Arrest

(2020) Zhihua Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family

(2020) Yao Xu et al.   CLINICAL GENETICS

A genomics approach to females with infertility and recurrent pregnancy loss

(2020) Sateesh Maddirevula et al.   HUMAN GENETICS

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

(2011) David A. Parry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Maternal control of early mouse development

(2010) L. Li et al.   DEVELOPMENT

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