(Q33683379)

28 July 2017

title

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

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28 July 2017

Strathdee G

2

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author name string

Kohonen-Corish M

1

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28 July 2017

Overhauser J

3

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28 July 2017

McDonald T

4

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28 July 2017

Jammu V

5

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28 July 2017

language of work or name

English

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publication date

1 March 1996

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

33

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28 July 2017

issue

3

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28 July 2017

page(s)

240-243

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Molecular analysis of the 18q- syndrome--and correlation with phenotype.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051877

The human cytochrome b5 gene and two of its pseudogenes are located on chromosomes 18q23, 14q31-32.1 and 20p11.2, respectively

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051877

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051877

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.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051877

The 1993-94 Généthon human genetic linkage map

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051877

Congenital methemoglobinemia with a deficiency of cytochrome b5.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051877

DNA length polymorphism located 5' to the human myelin basic protein gene.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051877

The human myelin-basic-protein gene: chromosomal localization and RFLP analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051877

Neurologic manifestations in 18q- syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051877

Tetranucleotide repeat polymorphism at the human myelin basic protein gene (MBP)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051877

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

28 July 2018

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

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

1 reference

12 December 2020

Chromosome 2p linkage analysis in hereditary non-polyposis colon cancer

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.33.3.240

1 reference

28 July 2017

1 reference

28 July 2017

1 reference