Structural genomic variation as risk factor for idiopathic recurrent miscarriage (Q34842111)

4 August 2017

title

Structural genomic variation as risk factor for idiopathic recurrent miscarriage (English)

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4 August 2017

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8

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4 August 2017

10

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4 August 2017

Priit Palta

2

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Henriette Svarre Nielsen

Henriette S Nielsen

6

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Kristiina Rull

Kristiina Rull

4

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Maido Remm

Maido Remm

9

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Liina Nagirnaja

1

Liina Nagirnaja

1 reference

4 August 2017

Laura Kasak

3

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author name string

Ole B Christiansen

5

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4 August 2017

Rudi Steffensen

7

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4 August 2017

publication date

24 June 2014

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4 August 2017

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4 August 2017

volume

35

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4 August 2017

issue

8

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4 August 2017

page(s)

972-982

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Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort

4 August 2017

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A modest but significant effect of CGB5 gene promoter polymorphisms in modulating the risk of recurrent miscarriage

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Effect of Combining Multiple CNV Defining Algorithms on the Reliability of CNV Calls from SNP Genotyping Data

8 July 2018

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High expression of GOLPH3 in esophageal squamous cell carcinoma correlates with poor prognosis

8 July 2018

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Complement in pregnancy: a delicate balance

8 July 2018

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Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death.

8 July 2018

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The effect of sperm DNA fragmentation on miscarriage rates: a systematic review and meta-analysis

8 July 2018

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Altered LKB1/AMPK/TSC1/TSC2/mTOR signaling causes disruption of Sertoli cell polarity and spermatogenesis

8 July 2018

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Genome-wide association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients

8 July 2018

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Structural and functional analysis of rare missense mutations in human chorionic gonadotrophin β-subunit

8 July 2018

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Local control of phosphatidylinositol 4-phosphate signaling in the Golgi apparatus by Vps74 and Sac1 phosphoinositide phosphatase

8 July 2018

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Global alteration in gene expression profiles of deciduas from women with idiopathic recurrent pregnancy loss

8 July 2018

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Genetics of recurrent miscarriage: challenges, current knowledge, future directions

8 July 2018

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Relative burden of large CNVs on a range of neurodevelopmental phenotypes

8 July 2018

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SOHLH1 and SOHLH2 coordinate spermatogonial differentiation

8 July 2018

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Leucine and arginine regulate trophoblast motility through mTOR-dependent and independent pathways in the preimplantation mouse embryo

8 July 2018

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Heightened uterine mammalian target of rapamycin complex 1 (mTORC1) signaling provokes preterm birth in mice

8 July 2018

1 reference

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mTOR controls ovarian follicle growth by regulating granulosa cell proliferation

8 July 2018

1 reference

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Genome-wide array-based copy number profiling in human placentas from unexplained stillbirths

8 July 2018

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The mTOR/AKT inhibitor temsirolimus prevents deep infiltrating endometriosis in mice.

8 July 2018

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8 July 2018

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Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Mapping copy number variation by population-scale genome sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Methylation allelic polymorphism (MAP) in chorionic gonadotropin beta5 (CGB5) and its association with pregnancy success

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

METAL: fast and efficient meta-analysis of genomewide association scans

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Europe the continent with the lowest fertility

8 July 2018

1 reference

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Speriolin is a novel human and mouse sperm centrosome protein

8 July 2018

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Functional impact of global rare copy number variation in autism spectrum disorders

8 July 2018

1 reference

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Tsc/mTORC1 signaling in oocytes governs the quiescence and activation of primordial follicles

8 July 2018

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GOLPH3 bridges phosphatidylinositol-4- phosphate and actomyosin to stretch and shape the Golgi to promote budding

8 July 2018

1 reference

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Origins and functional impact of copy number variation in the human genome

8 July 2018

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Recurrent first trimester pregnancy loss: revised definitions and novel causes

8 July 2018

1 reference

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Comparing CNV detection methods for SNP arrays

8 July 2018

1 reference

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Copy number variation in human health, disease, and evolution

8 July 2018

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Innate immunity, coagulation and placenta-related adverse pregnancy outcomes

8 July 2018

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Mechanisms of change in gene copy number

8 July 2018

1 reference

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High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

GOLPH3 modulates mTOR signalling and rapamycin sensitivity in cancer

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Circos: an information aesthetic for comparative genomics

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Genetic structure of Europeans: a view from the North-East

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Human olfaction: from genomic variation to phenotypic diversity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Copy number variants, diseases and gene expression

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Predicting adverse obstetric outcome after early pregnancy events and complications: a review

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Population analysis of large copy number variants and hotspots of human genetic disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Chorionic gonadotropin beta-gene variants are associated with recurrent miscarriage in two European populations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Integrated detection and population-genetic analysis of SNPs and copy number variation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Multifactorial etiology of recurrent miscarriage and its scientific and clinical implications.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

The fine-scale and complex architecture of human copy-number variation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Characterization of a SEPT9 interacting protein, SEPT14, a novel testis-specific septin

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Copy-number variation in control population cohorts

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Germ-line DNA copy number variation frequencies in a large North American population

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

g:Profiler--a web-based toolset for functional profiling of gene lists from large-scale experiments

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Maternal acceptance of the fetus: true human tolerance

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Relative impact of nucleotide and copy number variation on gene expression phenotypes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Glucose transporter isoform-3 mutations cause early pregnancy loss and fetal growth restriction

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

A comprehensive analysis of common copy-number variations in the human genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Global variation in copy number in the human genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Inhibition of prostate cancer cell growth by human secreted PDZ domain-containing protein 2, a potential autocrine prostate tumor suppressor.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Immunological analogy between allograft rejection, recurrent abortion and pre-eclampsia - the same basic mechanism?

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

mTOR: a placental growth signaling sensor

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

mTOR is essential for growth and proliferation in early mouse embryos and embryonic stem cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Proteolytic cleavage of PDZD2 generates a secreted peptide containing two PDZ domains

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Maternal age and fetal loss: population based register linkage study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Idiopathic recurrent spontaneous abortion. Evidence of a familial predisposition

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285182

Lipidomic analysis of human placental syncytiotrophoblast microvesicles in adverse pregnancy outcomes.

8 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22589

mTOR mediates human trophoblast invasion through regulation of matrix-remodeling enzymes and is associated with serine phosphorylation of STAT3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22589

Killer immunoglobulin-like receptors (KIRs) and HLA-C allorecognition patterns implicative of dominant activation of natural killer cells contribute to recurrent miscarriages.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22589

Segmental copy number variation shapes tissue transcriptomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22589

A study of HLA-DR and -DQ alleles in 588 patients and 562 controls confirms that HLA-DRB1*03 is associated with recurrent miscarriage

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22589

Genetic predisposition to idiopathic recurrent spontaneous abortion: contribution of genetic variations in IGF-2 and H19 imprinted genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22589

21 January 2018

Recurrent miscarriage

2 references

https://api.crossref.org/works/10.1002%2FHUMU.22589

21 January 2018

12 December 2020

A genome-wide scan in affected sibling pairs with idiopathic recurrent miscarriage suggests genetic linkage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22589

Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22589

Comparison of gene expression at the feto-maternal interface between normal and recurrent pregnancy loss patients

21 January 2018

1 reference

12 December 2020

Embryonic karyotype of abortuses in relation to the number of previous miscarriages

1 reference

12 December 2020

Increased frequency of complement C4 'null' alleles in recurrent spontaneous abortions

1 reference

12 December 2020

Recurrent miscarriage

1 reference

12 December 2020

Obstetric and neonatal outcome in women with a history of recurrent miscarriage: a cohort study

1 reference

12 December 2020

Mammalian target of rapamycin in the human placenta regulates leucine transport and is down-regulated in restricted fetal growth

1 reference

12 December 2020

A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency

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12 December 2020

Identifiers

DOI

10.1002/HUMU.22589

1 reference

4 August 2017

1 reference

4 August 2017

1 reference