(Q35643390)

English

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.

scientific article published on April 1995

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scholarly article

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24 October 2019

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. (English)

1 reference

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24 October 2019

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author name string

G A Silverman

1

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24 October 2019

S S Schneider

2

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24 October 2019

H F Massa

3

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24 October 2019

A Flint

4

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24 October 2019

M Lalande

5

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24 October 2019

J C Leonard

6

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24 October 2019

J Overhauser

7

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24 October 2019

G van den Engh

8

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24 October 2019

B J Trask

9

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24 October 2019

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1 April 1995

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24 October 2019

American Journal of Human Genetics

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24 October 2019

56

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24 October 2019

4

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24 October 2019

926-937

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24 October 2019

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801205

27 July 2018

Chromosomal reassignment: YACs containing both YES1 and thymidylate synthase map to the short arm of chromosome 18

1 reference

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Digitized and differentially shaded human chromosome ideograms for genomic applications.

1 reference

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27 July 2018

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

1 reference

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27 July 2018

Deletion of the ferrochelatase gene in a patient with protoporphyria

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27 July 2018

The 1993-94 Généthon human genetic linkage map

1 reference

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27 July 2018

Immunological profile in a chromosome 18 deletion syndrome with IgA deficiency

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27 July 2018

Partial monosomies 18. Review of cytogenetical and phenotypical variants

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27 July 2018

18q+, the progeny of a balanced translocation t(1;18)mat: case report with necropsy findings

1 reference

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27 July 2018

18q deletion syndrome in a child with steroid-17,20-lyase deficiency.

1 reference

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27 July 2018

Molecular cytogenetics: toward dissection of the contiguous gene syndromes

1 reference

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27 July 2018

Contiguous gene syndromes: a component of recognizable syndromes

1 reference

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27 July 2018

Human SSAV-related endogenous retroviral element: LTR-like sequence and chromosomal localization to 18q21.

1 reference

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27 July 2018

Chromosome heteromorphism quantified by high-resolution bivariate flow karyotyping

1 reference

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27 July 2018

Chromosomal mapping of mouse myelin basic protein gene and structure and transcription of the partially deleted gene in shiverer mutant mice.

1 reference

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27 July 2018

Identification of a chromosome 18q gene that is altered in colorectal cancers

1 reference

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27 July 2018

Quantification of the DNA content of structurally abnormal X chromosomes and X chromosome aneuploidy using high resolution bivariate flow karyotyping

1 reference

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27 July 2018

Yeast artificial chromosome cloning of a two-megabase-size contig within chromosomal band 18q21 establishes physical linkage between BCL2 and plasminogen activator inhibitor type-2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801205

27 July 2018

Neurologic manifestations in 18q- syndrome

1 reference

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27 July 2018

Whole genome amplification from a single cell: implications for genetic analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801205

27 July 2018

Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801205

27 July 2018

A molecular defect in human protoporphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801205

27 July 2018

Structural aberrations of chromosome 18. II. The 18q- syndrome. Report of three cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801205

27 July 2018

Erythropoietic protoporphyria, heterozygous cystinuria, and reduced peptidase A activity in a patient with 46,XX/46,XX,18q--mosaicism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801205

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801205

27 July 2018

Clonal transformation of adult human leukocytes by Epstein-Barr virus

1 reference

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27 July 2018

PCR probes for chromosome in situ hybridization of large-insert bacterial recombinants

1 reference

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25 September 2018

Genetic transfer and expression of reconstructed yeast artificial chromosomes containing normal and translocated BCL2 proto-oncogenes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801205

25 September 2018

Pure chromosome-specific PCR libraries from single sorted chromosomes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801205

25 September 2018

Biochemical Abnormalities in Spinal Cord Myelin and CNS Homogenates in Heterozygotes Affected by the Shiverer Mutation

1 reference

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15 November 2018

The brain in the 18q-syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801205

15 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7717403

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

1 reference

https://pubmed.ncbi.nlm.nih.gov/7717403

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preimplantation single cell analyses of dystrophin gene deletions using whole genome amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/7717403

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PARTIAL DELETION OF THE LONG ARMS OF THE CHROMOSOME 18

1 reference

https://pubmed.ncbi.nlm.nih.gov/7717403

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial deletion of the long arm of chromosome 18. Individualization of a new morbid state

1 reference

https://pubmed.ncbi.nlm.nih.gov/7717403

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and chromosomal studies of the 18q-syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7717403

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7717403

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Deletion of the long arm of chromosome 18, primary hypothyroidism, Biermer's anemia and IgM hypogammaglobulinemia]

1 reference

https://pubmed.ncbi.nlm.nih.gov/7717403

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer

1 reference

https://pubmed.ncbi.nlm.nih.gov/7717403

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pernicious anemia, 18q deletion syndrome, and IgA deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7717403

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Effect of the Shiverer Mutation on Myelin Basic Protein Expression in Homozygous and Heterozygous Mouse Brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/7717403

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Report of the first international workshop on human chromosome 18 mapping

1 reference

https://pubmed.ncbi.nlm.nih.gov/7717403

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

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24 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7717403%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

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