(Q33592816)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918541%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

title

Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918541%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

author name string

I A Glass

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918541%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

C A Swindlehurst

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918541%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

D A Aitken

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918541%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

W McCrea

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918541%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

E Boyd

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918541%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

language of work or name

English

0 references

publication date

1 February 1989

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918541%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

7 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918541%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

volume

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918541%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

page(s)

127-130

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918541%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918541%20AND%20SRC:MED&resulttype=core&format=json

Interstitial deletion of the long arm of chromosome 2: case report and review of literature.

7 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015564

Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015564

Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015564

Identical multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to del(2)(q32) in two sisters with intrachromosomal insertional translocation in their father

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015564

Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015564

[De novo interstitial deletion of the long arm of chromosome 2: 46,XXX,del(2)(q14q21), associated with premature craniosynostosis]

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015564

Interstitial deletion 2q31 leads to q33

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2918541

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Probable assignment of soluble isocitrate dehydrogenase (IDH1) to 2q33.3.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2918541

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.26.2.127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918541%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918541%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

1 reference