Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization. (Q55632611)

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21 February 2020

title

Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization (English)

1 reference

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Սիլվեր-Ռասսելի համախտանիշ

21 February 2020

main subject

1 reference

7

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21 February 2020

author name string

Guido Cocchi

1

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21 February 2020

Concetta Marsico

2

1 reference

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21 February 2020

Anita Cosentino

3

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21 February 2020

Chiara Spadoni

4

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21 February 2020

Alessandro Rocca

5

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21 February 2020

Agostina De Crescenzo

6

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21 February 2020

language of work or name

English

0 references

publication date

16 August 2013

1 reference

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American Journal of Medical Genetics

21 February 2020

published in

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21 February 2020

volume

161A

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21 February 2020

issue

10

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21 February 2020

page(s)

2652-2655

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The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

21 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065345

Imprinting disorders and assisted reproductive technology

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065345

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065345

A review of known imprinting syndromes and their association with assisted reproduction technologies.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065345

Growth and development of children born after in vitro fertilization

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065345

The genetic aetiology of Silver-Russell syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065345

Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065345

Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065345

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065345

Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065345

A female infant with Silver Russell Syndrome, mesocardia and enlargement of the clitoris.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065345

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065345

The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065345

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

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065345

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065345

Increased risk of Silver-Russell syndrome after in vitro fertilization?

12 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24038823

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Silver-Russell syndrome following in vitro fertilization

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24038823

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24038823

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.36145

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038823%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

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21 February 2020

PubMed publication ID

24038823

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038823%20AND%20SRC:MED&resulttype=core&format=json