(Q81552488)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15781202%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

Analysis of genomic variants in the KCNQ1OT1 transcript in Silver-Russell syndrome patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15781202%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

main subject

Silver-Russell syndrome

1 reference

Meyer E

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15781202%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Eggermann T

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15781202%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Wollmann HA

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15781202%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

publication date

22 January 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15781202%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

9 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15781202%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

volume

84

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15781202%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15781202%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

page(s)

376-377

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15781202%20AND%20SRC:MED&resulttype=core&format=json

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

9 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.002

Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.002

Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.002

Searching for genomic variants in IGF2 and CDKN1C in Silver-Russell syndrome patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.002

LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.002

A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.002

Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.002

Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.002

Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.002

10.1016/J.YMGME.2004.12.002

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15781202%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference