Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring

Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

(2015) Thomas Eggermann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole

(2015) Yuki Ito et al.   GYNECOLOGIC AND OBSTETRIC INVESTIGATION

Live births in women with recurrent hydatidiform mole and two NLRP7 mutations

(2015) Elie Akoury et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

(2015) Louise E. Docherty et al.   Nature Communications

Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting

(2015) Marta Sanchez-Delgado et al.   PLoS Genetics

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

(2015) Thomas Eggermann et al.   Clinical Epigenetics

NOD-like receptors interfacing the immune and reproductive systems

(2014) Hanne Van Gorp et al.   FEBS Journal

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

A familial disorder of altered DNA-methylation

(2014) Almuth Caliebe et al.   JOURNAL OF MEDICAL GENETICS

NLRP7 affects trophoblast lineage differentiation, binds to overexpressed YY1 and alters CpG methylation

(2013) Sangeetha Mahadevan et al.   HUMAN MOLECULAR GENETICS

Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects

(2013) Jasmin Beygo et al.   PLoS One

NLRP7 and the Genetics of Hydatidiform Moles: Recent Advances and New Challenges

(2013) Rima Slim et al.   Frontiers in Immunology

NLRP7Mutation Analysis in Sporadic Hydatidiform Moles in Tunisian Patients:NLRP7and Sporadic Mole

(2012) Hanène Landolsi et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci

(2012) Matthias Begemann et al.   Epigenetics

Mutations inNLRP7 andKHDC3LConfer a Complete Hydatidiform Mole Phenotype on Digynic Triploid Conceptions

(2012) Masoumeh Fallahian et al.   HUMAN MUTATION

Screening for NLRP7 Mutations in Familial and Sporadic Recurrent Hydatidiform Moles

(2011) Hanène Landolsi et al.   INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY

NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage

(2011) C. Messaed et al.   JOURNAL OF MEDICAL GENETICS

A strong founder effect for twoNLRP7mutations in the Indian population: an intriguing observation

(2009) R Slim et al.   CLINICAL GENETICS

NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation

(2009) C. Deveault et al.   HUMAN MOLECULAR GENETICS

Genetic and Epigenetic Analysis of Recurrent Hydatidiform Mole

(2009) Bruce E. Hayward et al.   HUMAN MUTATION

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

(2009) Esther Meyer et al.   PLoS Genetics