(Q35238612)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9106532%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Molecular characterization of patients with 18q23 deletions (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9106532%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9106532%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

author name string

Sutherland R

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9106532%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Jonsson JJ

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9106532%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Sataloff R

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9106532%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Kohonen-Corish M

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9106532%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Grady D

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9106532%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Overhauser J

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9106532%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

language of work or name

English

0 references

publication date

1 April 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9106532%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

2 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9106532%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9106532%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9106532%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

860-868

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9106532%20AND%20SRC:MED&resulttype=core&format=json

A new deletion of 18q23 with few typical features of the 18q- syndrome

2 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

Molecular analysis of the 18q- syndrome--and correlation with 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=1712465

Dual Alu polymerase chain reaction primers and conditions for isolation of human chromosome painting probes from hybrid cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

Interstitial deletions are not the main mechanism leading to 18q deletions

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

A radiation hybrid map of human chromosome 18.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

Construction and characterization of partial digest DNA libraries made from flow-sorted human chromosome 16.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat 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=1712465

Summary of the 1993 ASHG ancillary meeting "recent research on chromosome 4p syndromes and genes".

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

The 1993-94 Généthon human genetic linkage map

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

Selective IgA deficiency with 18q+ and 18q-- karyotypic anomalies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

Cloning of large segments of exogenous DNA into yeast by means of artificial chromosome vectors

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

Vector-Alu PCR: a rapid step in mapping cosmids and YACs

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

Chromosomal localization of a cytochrome b5 gene to human chromosome 18 and a cytochrome b5 pseudogene to the X chromosome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

Somatic cell hybrid deletion map of human chromosome 18

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

Confirmation of a cryptic unbalanced translocation using whole chromosome fluorescence in situ hybridization

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

A second-generation linkage map of the human genome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

Kinetics of transport and phosphorylation of 2-fluoro-2-deoxy-D-glucose in rat brain.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

Expression of only one myelin basic protein allele in mouse is compatible with normal myelination.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712465

IgA deficiency associated with partial deletion of chromosome 18

26 September 2018

1 reference

12 December 2020

PARTIAL DELETION OF THE LONG ARMS OF THE CHROMOSOME 18

1 reference

12 December 2020

Clinical and chromosomal studies of the 18q-syndrome

1 reference

12 December 2020

Distal 18q deletion without clinical findings of 18q- syndrome

1 reference

12 December 2020

Shiverer: an autosomal recessive mutant mouse with myelin deficiency

1 reference

12 December 2020

Pernicious anemia, 18q deletion syndrome, and IgA deficiency

1 reference

12 December 2020

Contribution to the 18q- syndrome. A patient with del(18) (q22.3qter)

1 reference

12 December 2020

Morphometric analysis of normal, mutant, and transgenic CNS: correlation of myelin basic protein expression to myelinogenesis

1 reference

12 December 2020

A microsatellite genetic linkage map of human chromosome 18

1 reference

12 December 2020

STS map of genes and anonymous DNA fragments on human chromosome 18 using a panel of somatic cell hybrids

1 reference

12 December 2020

Report and abstracts of the second international workshop on human chromosome 18 mapping. Doorwerth, the Netherlands, July 19-20, 1993

1 reference

12 December 2020

Integration of 28 STSs into the physical map of human chromosome 18

1 reference

12 December 2020

Analysis of clinical variation seen in patients with 18q terminal deletions

1 reference

12 December 2020

Familial occurrence of 18q

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9106532%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference