Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci (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

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7 June 2020

8

Karen Grønskov

Karen

Grønskov

1 reference

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7 June 2020

9

Andrea Riccio

Andrea

Riccio

1 reference

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7 June 2020

10

Agnès Linglart

Agnès

Linglart

1 reference

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7 June 2020

3

Eamonn R Maher

Eamonn R

Maher

1 reference

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7 June 2020

Thomas Eggermann

1

Thomas

Eggermann

2 references

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7 June 2020

David Monk

series ordinal

6

author given names

David

author last names

Monk

2 references

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7 June 2020

Irène Netchine

series ordinal

11

author given names

Irène

author last names

Netchine

2 references

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7 June 2020

language of work or name

1 reference

2015

1 reference

2 references

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7 June 2020

volume

7

2 references

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7 June 2020

page(s)

123

2 references

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

7 June 2020

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0 references

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28 September 2017

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28 September 2017

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28 September 2017

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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

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28 September 2017

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28 September 2017

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

28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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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

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28 September 2017

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28 September 2017

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Epigenotype-phenotype correlations in Silver-Russell syndrome

28 September 2017

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28 September 2017

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

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28 September 2017

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

28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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

28 September 2017

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

28 September 2017

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28 September 2017

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

28 September 2017

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28 September 2017

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

28 September 2017

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

31 May 2018

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31 May 2018

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Looking for CDKN1C enhancers.

31 May 2018

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

31 May 2018

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

31 May 2018

1 reference

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

31 May 2018

1 reference

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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

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

21 January 2018

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

21 January 2018

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An imprinted locus associated with transient neonatal diabetes mellitus

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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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

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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

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

21 January 2018

1 reference

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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

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Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

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

28 November 2018

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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

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12 December 2020

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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

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7 June 2020

1023889394

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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