(Q35204932)

English

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

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scholarly article

1 reference

Europe PubMed Central

7 August 2017

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

1 reference

Europe PubMed Central

7 August 2017

1 reference

based on heuristic

inferred from title

Clare Victoria Logan

2

1 reference

Europe PubMed Central

7 August 2017

David T. Bonthron

18

object named as

David T Bonthron

0 references

Christine Diggle

6

object named as

Christine Diggle

0 references

object named as

David A Parry

1

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author name string

Bruce E Hayward

3

1 reference

Europe PubMed Central

7 August 2017

Michael Shires

4

1 reference

Europe PubMed Central

7 August 2017

Hanène Landolsi

5

1 reference

Europe PubMed Central

7 August 2017

Christine Diggle

6

1 reference

Europe PubMed Central

7 August 2017

Ian Carr

7

1 reference

Europe PubMed Central

7 August 2017

Cécile Rittore

8

1 reference

Europe PubMed Central

7 August 2017

Isabelle Touitou

9

1 reference

Europe PubMed Central

7 August 2017

Laurent Philibert

10

1 reference

Europe PubMed Central

7 August 2017

Rosemary A Fisher

11

1 reference

Europe PubMed Central

7 August 2017

Masoumeh Fallahian

12

1 reference

Europe PubMed Central

7 August 2017

John D Huntriss

13

1 reference

Europe PubMed Central

7 August 2017

Helen M Picton

14

1 reference

Europe PubMed Central

7 August 2017

Saghira Malik

15

1 reference

Europe PubMed Central

7 August 2017

Graham R Taylor

16

1 reference

Europe PubMed Central

7 August 2017

Colin A Johnson

17

1 reference

Europe PubMed Central

7 August 2017

Eamonn G Sheridan

19

1 reference

Europe PubMed Central

7 August 2017

language of work or name

0 references

publication date

1 September 2011

1 reference

Europe PubMed Central

7 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

7 August 2017

89

1 reference

Europe PubMed Central

7 August 2017

3

1 reference

Europe PubMed Central

7 August 2017

451-458

1 reference

Europe PubMed Central

7 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

Quantitative analysis of DNA methylation of imprinted genes in single human blastocysts by pyrosequencing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

Dindel: accurate indel calls from short-read data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

Mechanisms of imprint dysregulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

Maternal-effect gene Ces5/Ooep/Moep19/Floped is essential for oocyte cytoplasmic lattice formation and embryonic development at the maternal-zygotic stage transition.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

Functional evolution of the trace amine associated receptors in mammals and the loss of TAAR1 in dogs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

Role of Filia, a maternal effect gene, in maintaining euploidy during cleavage-stage mouse embryogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

Gene birth, death, and divergence: the different scenarios of reproduction-related gene evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

Expression analysis of the NLRP gene family suggests a role in human preimplantation development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

Maternally derived FILIA-MATER complex localizes asymmetrically in cleavage-stage mouse embryos

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

Oocyte-specific genes affect folliculogenesis, fertilization, and early development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

A second class of chemosensory receptors in the olfactory epithelium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

cDNA cloning and expression of the human NOBOX gene in oocytes and ovarian follicles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

Biparental hydatidiform moles: a maternal effect mutation affecting imprinting in the offspring

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

Expression of mRNAs for DNA methyltransferases and methyl-CpG-binding proteins in the human female germ line, preimplantation embryos, and embryonic stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

A genome-wide study of gene activity reveals developmental signaling pathways in the preimplantation mouse embryo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

The homeoprotein Nanog is required for maintenance of pluripotency in mouse epiblast and ES cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

KH domain: one motif, two folds

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

Mater, a maternal effect gene required for early embryonic development in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

In vitro growth of oocyte-granulosa cell complexes isolated from cryopreserved ovine tissue.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

Androgenetic origin of hydatidiform mole

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

13 July 2018

IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

26 September 2018

Genetic and epigenetic analysis of recurrent hydatidiform mole.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

26 September 2018

Atypical structure and phylogenomic evolution of the new eutherian oocyte- and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

26 September 2018

SnapShot: imprinted gene clusters.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

26 September 2018

Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

26 September 2018

Maternal primary imprinting is established at a specific time for each gene throughout oocyte growth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

26 September 2018

High-fidelity mRNA amplification for gene profiling.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

26 September 2018

Low temperature storage and grafting of human ovarian tissue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

26 September 2018

Evolution of imprinting mechanisms: the battle of the sexes begins in the zygote

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169823

15 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21885028

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21885028

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2011.08.002

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

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