(Q38057715)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125094%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

title

Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125094%20AND%20SRC:MED&resulttype=core&format=json

complete hydatidiform mole

17 February 2020

main subject

1 reference

1 reference

2

1 reference

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17 February 2020

Philip Savage

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125094%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Rosemary A Fisher

5

1 reference

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17 February 2020

author name string

Masoumeh Fallahian

1

1 reference

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17 February 2020

Michael J Seckl

4

1 reference

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17 February 2020

publication date

2 November 2012

1 reference

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17 February 2020

1 reference

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17 February 2020

volume

34

1 reference

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17 February 2020

issue

2

1 reference

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17 February 2020

page(s)

301-308

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125094%20AND%20SRC:MED&resulttype=core&format=json

Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles.

17 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Genomic imprinting in gestational trophoblastic disease--a review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Repetitive complete hydatidiform mole can be biparental in origin and either male or female.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Methylation imprints of the imprint control region of the SNRPN-gene in human gametes and preimplantation embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Postzygotic diploidization of triploids as a source of unusual cases of mosaicism, chimerism and twinning

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Genetic and epigenetic analysis of recurrent hydatidiform mole.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Oocyte growth-dependent progression of maternal imprinting in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Genetic refinement and physical mapping of a biparental complete hydatidiform mole locus on chromosome 19q13.4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

A global disorder of imprinting in the human female germ line.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Androgenetic origin of hydatidiform mole

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

An NLRP7-containing inflammasome mediates recognition of microbial lipopeptides in human macrophages

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Screening for NLRP7 mutations in familial and sporadic recurrent hydatidiform moles: report of 2 Tunisian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Genetic studies on hydatidiform moles. I. The origin of partial moles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Methylation dynamics of imprinted genes in mouse germ cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Phenotype of triploid embryos.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

NLRP7, a nucleotide oligomerization domain-like receptor protein, is required for normal cytokine secretion and co-localizes with Golgi and the microtubule-organizing center

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Risk of recurrent hydatidiform mole and subsequent pregnancy outcome following complete or partial hydatidiform molar pregnancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Histopathological diagnosis of partial and complete hydatidiform mole in the first trimester of pregnancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Recurrent triploid and dispermic conceptions in patients with NLRP7 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with the partial hydatidiform mole

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

The maternally transcribed gene p57KIP2 (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

p57KIP2 immunohistochemical staining of gestational trophoblastic tumours does not identify the type of the causative pregnancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Dispermic origin of XY hydatidiform moles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

Heterogeneity in recurrent complete hydatidiform mole: presentation of two new Turkish families with different genetic characteristics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

7 January 2021

Complete and partial hydatidiform mole in Hawaii: cytogenetics, morphology and epidemiology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

7 January 2021

Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

7 January 2021

Genetic studies on hydatidiform moles II. The origin of complete moles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

7 January 2021

Parental origin of triploidy in human fetuses: evidence for genomic imprinting

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

7 January 2021

The spectrum of NLRP7 mutations in French patients with recurrent hydatidiform mole

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

7 January 2021

Diploid hydatidiform moles with fetal red blood cells in molar villi. 1--Pathology, incidence, and prognosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

7 January 2021

The genetics of recurrent hydatidiform moles in China: correlations between NLRP7 mutations, molar genotypes and reproductive outcomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

7 January 2021

Genetic analysis of repeated, biparental, diploid, hydatidiform moles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

7 January 2021

Early complete hydatidiform moles contain inner cell mass derivatives

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22228

7 January 2021

Identifiers

DOI

10.1002/HUMU.22228

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125094%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125094%20AND%20SRC:MED&resulttype=core&format=json