(Q33740660)

29 July 2017

title

Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7. (English)

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29 July 2017

7

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29 July 2017

Katariina Hannula-Jouppi

1

Katariina Hannula-Jouppi

0 references

Marita Lipsanen-Nyman

3

Marita Lipsanen-Nyman

0 references

Dario Greco

Dario Greco

6

0 references

Sini Tellervo Ezer

5

Sini Ezer

1 reference

29 July 2017

author name string

Katariina Hannula-Jouppi

1

1 reference

29 July 2017

Mari Muurinen

2

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29 July 2017

Lovisa E Reinius

4

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29 July 2017

publication date

18 November 2013

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29 July 2017

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29 July 2017

volume

9

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29 July 2017

issue

3

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29 July 2017

page(s)

351-365

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Differential DNA methylation in purified human blood cells: implications for cell lineage and studies on disease susceptibility

29 July 2017

cites work

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21 June 2018

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Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver-Russell syndrome

21 June 2018

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21 June 2018

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21 June 2018

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Validation of a DNA methylation microarray for 450,000 CpG sites in the human genome

21 June 2018

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A long noncoding RNA maintains active chromatin to coordinate homeotic gene expression

21 June 2018

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21 June 2018

Silver-Russell syndrome

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Comparison of Beta-value and M-value methods for quantifying methylation levels by microarray analysis

21 June 2018

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6q24 transient neonatal diabetes.

21 June 2018

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Prader–Willi syndrome and Angelman syndrome

21 June 2018

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Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15

21 June 2018

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Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

21 June 2018

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The Integrated Genome Browser: free software for distribution and exploration of genome-scale datasets

21 June 2018

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The function of non-coding RNAs in genomic imprinting

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

A myelopoiesis-associated regulatory intergenic noncoding RNA transcript within the human HOXA cluster

21 June 2018

1 reference

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Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14.

21 June 2018

1 reference

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Dynamic variation in allele-specific gene expression of Paraoxonase-1 in murine and human tissues

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

lumi: a pipeline for processing Illumina microarray

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Computational and experimental identification of novel human imprinted genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Identification of six putative human transporters with structural similarity to the drug transporter SLC22 family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Silencing by imprinted noncoding RNAs: is transcription the answer?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Genomic imprinting in mammals: emerging themes and established theories

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Global analysis of uniparental disomy using high density genotyping arrays

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Identification of a large novel imprinted gene cluster on mouse proximal chromosome 6.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

A new imprinted cluster on the human chromosome 7q21-q31, identified by human-mouse monochromosomal hybrids

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Homeobox genes in normal and malignant cells.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

A retrotransposon-derived gene, PEG10, is a novel imprinted gene located on human chromosome 7q21

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Genomic imprinting: parental influence on the genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

The sonic hedgehog-patched-gli pathway in human development and disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Human PEG1/MEST, an imprinted gene on chromosome 7

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Role for DNA methylation in genomic imprinting

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases.

21 June 2018

1 reference

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

21 January 2018

1 reference

Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies

21 January 2018

1 reference

Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia

21 January 2018

1 reference

Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome.

21 January 2018

1 reference

Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues

21 January 2018

1 reference

Methylation profiling in individuals with Russell-Silver syndrome.

21 January 2018

1 reference

Paternal deletion of Meg1/Grb10 DMR causes maternalization of the Meg1/Grb10 cluster in mouse proximal Chromosome 11 leading to severe pre- and postnatal growth retardation

21 January 2018

1 reference

DDC and COBL, flanking the imprinted GRB10 gene on 7p12, are biallelically expressed

21 January 2018

1 reference

Expression analysis of proline rich 15 (Prr15) in mouse and human gastrointestinal tumors.

21 January 2018

1 reference

Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?

21 January 2018

1 reference

Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion

21 January 2018

1 reference

Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Prenatal and Postnatal Growth Retardation of Unknown Cause

21 January 2018

1 reference

No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4053454

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

30 October 2018

1 reference

12 December 2020

Beckwith–Wiedemann syndrome

1 reference

12 December 2020

Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes

1 reference

12 December 2020

Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation

1 reference

12 December 2020

Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome

1 reference

12 December 2020

A new genetic concept: uniparental disomy and its potential effect, isodisomy

1 reference

12 December 2020

Mosaic maternal uniparental isodisomy for chromosome 7q21-qter

1 reference

12 December 2020

Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: a new patient presenting with normal growth

1 reference

12 December 2020

Segmental maternal UPD(7q) in Silver-Russell syndrome

1 reference

12 December 2020

Identifiers

DOI

10.4161/EPI.27160

1 reference

29 July 2017

1 reference

29 July 2017

1 reference