(Q26995324)

10.1186/S13148-016-0194-5

DOI

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1186/S13148-016-0194-5

author

Guiomar Perez de Nanclares

series ordinal

2

object named as

Guiomar Perez de Nanclares

author given names

Guiomar

author last names

Perez de Nanclares

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26583054%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

4

I Karen Temple

I Karen

Temple

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26583054%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

5

Zeynep Tümer

Zeynep

Tümer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26583054%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

7

Deborah J G Mackay

Deborah J G

Mackay

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26583054%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

8

Karen Grønskov

Karen

Grønskov

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26583054%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

9

Andrea Riccio

Andrea

Riccio

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26583054%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

10

Agnès Linglart

Agnès

Linglart

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26583054%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

3

Eamonn R Maher

Eamonn R

Maher

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26583054%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Thomas Eggermann

1

Thomas

Eggermann

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26583054%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

David Monk

series ordinal

6

author given names

David

author last names

Monk

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26583054%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Irène Netchine

series ordinal

11

author given names

Irène

author last names

Netchine

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26583054%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

language of work or name

1 reference

2015

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26583054%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

volume

7

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26583054%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

page(s)

123

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26583054%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1186/s13148-015-0143-8

7 June 2020

exact match

0 references

cites work

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21 March 2017

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Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

21 March 2017

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

21 March 2017

1 reference

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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.

28 September 2017

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Paternally Inherited IGF2 Mutation and Growth Restriction

28 September 2017

1 reference

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Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

28 September 2017

1 reference

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A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

28 September 2017

1 reference

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(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

28 September 2017

1 reference

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Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

28 September 2017

1 reference

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Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)

28 September 2017

1 reference

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A systems-level approach to parental genomic imprinting: the imprinted gene network includes extracellular matrix genes and regulates cell cycle exit and differentiation

28 September 2017

1 reference

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Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Multilocus methylation defects in imprinting disorders.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Mosaicism and uniparental disomy in prenatal diagnosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

A novel MKRN3 missense mutation causing familial precocious puberty

28 September 2017

1 reference

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Insulin and insulin-like growth factor 1 receptors are required for normal expression of imprinted genes

28 September 2017

1 reference

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MKRN3 mutations in familial central precocious puberty

28 September 2017

1 reference

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Altered expression of the imprinted transcription factor PLAGL1 deregulates a network of genes in the human IUGR placenta

28 September 2017

1 reference

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Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

28 September 2017

1 reference

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Angelman syndrome: review of clinical and molecular aspects

28 September 2017

1 reference

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Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

The impact of assisted reproductive technologies on genomic imprinting and imprinting disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.

28 September 2017

1 reference

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Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Central precocious puberty caused by mutations in the imprinted gene MKRN3.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Segmental Maternal UPD6 with Prenatal Growth Restriction

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

28 September 2017

1 reference

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Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Clinical review: Pseudohypoparathyroidism: diagnosis and treatment.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

6q24 transient neonatal diabetes.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Epigenotype-phenotype correlations in Silver-Russell syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

The genetic aetiology of Silver-Russell syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Epimutations in human disease.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Imprinting errors and developmental asymmetry

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

American College of Medical Genetics statement of diagnostic testing for uniparental disomy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Disruption of the bipartite imprinting center in a family with Angelman syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Prader-Willi syndrome: consensus diagnostic criteria.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Maternal uniparental disomy for chromosome 14

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Looking for CDKN1C enhancers.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.

31 May 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13148-015-0143-8

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13148-015-0143-8

CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13148-015-0143-8

Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13148-015-0143-8

An imprinted locus associated with transient neonatal diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13148-015-0143-8

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13148-015-0143-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13148-015-0143-8

Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13148-015-0143-8

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13148-015-0143-8

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13148-015-0143-8

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13148-015-0143-8

The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13148-015-0143-8

Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13148-015-0143-8

Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13148-015-0143-8

Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13148-015-0143-8

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13148-015-0143-8

Adult phenotype of Russell-Silver syndrome: A molecular support for Barker-Brenner's theory.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4650860

Evidence for imprinting on chromosome 16: the effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnancies

28 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Angelman syndrome: Mutations influence features in early childhood

1 reference

12 December 2020

1 reference

12 December 2020

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

1 reference

12 December 2020

Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation

1 reference

12 December 2020

11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations

1 reference

12 December 2020

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

1 reference

12 December 2020

Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features

1 reference

12 December 2020

Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features

1 reference

12 December 2020

10.1186/S13148-015-0143-8

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26583054%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

7 June 2020

1023889394

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26583054%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26583054%20AND%20SRC:MED&resulttype=core&format=json