(Q36434871)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22926222%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

Generation of the Sotos syndrome deletion in mice (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22926222%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

Anna Migdalska-Richards

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22926222%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Alistair G Rust

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22926222%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Darren W. Logan

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22926222%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

9

James R Lupski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22926222%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

author name string

Louise van der Weyden

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22926222%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Ozama Ismail

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22926222%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Sanger Mouse Genetics Project

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22926222%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Mamunur Rashid

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22926222%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Jacqueline K White

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22926222%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Gabriela Sánchez-Andrade

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22926222%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Mark J Arends

11

1 reference

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12 February 2020

David J Adams

12

1 reference

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12 February 2020

publication date

29 August 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22926222%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

number of pages

9

1 reference

inferred from page(s)

published in

Mammalian Genome

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22926222%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

volume

23

1 reference

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12 February 2020

issue

11-12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22926222%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

page(s)

749-757

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22926222%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00335-012-9416-0

12 February 2020

exact match

0 references

cites work

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

1 reference

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Modeling partial monosomy for human chromosome 21q11.2-q21.1 reveals haploinsufficient genes influencing behavior and fat deposition

30 September 2017

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Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defects

30 September 2017

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Clan genomics and the complex architecture of human disease

30 September 2017

1 reference

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A mental retardation gene, motopsin/neurotrypsin/prss12, modulates hippocampal function and social interaction

30 September 2017

1 reference

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Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome

30 September 2017

1 reference

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30 September 2017

1 reference

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Social recognition memory requires two stages of protein synthesis in mice

30 September 2017

1 reference

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Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510424

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510424

Mutagenic insertion and chromosome engineering resource (MICER).

30 September 2017

1 reference

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Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510424

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510424

NSD1 is essential for early post-implantation development and has a catalytically active SET domain

30 September 2017

1 reference

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Haploinsufficiency of NSD1 causes Sotos syndrome

30 September 2017

1 reference

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Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene

30 September 2017

1 reference

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A system for rapid generation of coat color-tagged knockouts and defined chromosomal rearrangements in mice

30 September 2017

1 reference

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Chromosome engineering in mice

30 September 2017

1 reference

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Long-term memory underlying hippocampus-dependent social recognition in mice

30 September 2017

1 reference

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Testing declarative memory in laboratory rats and mice using the nonconditioned social discrimination procedure.

28 June 2018

1 reference

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Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.

21 January 2018

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Different importance of the volatile and non-volatile fractions of an olfactory signature for individual social recognition in rats versus mice and short-term versus long-term memory.

21 January 2018

1 reference

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Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome

21 January 2018

1 reference

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Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22926222

12 December 2020

inferred from PubMed ID database lookup

GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22926222

12 December 2020

inferred from PubMed ID database lookup

A targeted X-linked CMV-Cre line

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22926222

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S00335-012-9416-0

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22926222%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22926222%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

PubMed publication ID

22926222

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22926222%20AND%20SRC:MED&resulttype=core&format=json