Characterization of three de novo derivative chromosomes 16 by "reverse chromosome painting" and molecular analysis (Q35194066)

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13 October 2019

title

Characterization of three de novo derivative chromosomes 16 by "reverse chromosome painting" and molecular analysis (English)

1 reference

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13 October 2019

author name string

Rack KA

1

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13 October 2019

Harris PC

2

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13 October 2019

MacCarthy AB

3

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13 October 2019

Boone R

4

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13 October 2019

Raynham H

5

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13 October 2019

McKinley M

6

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13 October 2019

Fitchett M

7

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13 October 2019

Towe CM

8

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13 October 2019

Rudd P

9

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13 October 2019

Armour JA

10

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13 October 2019

language of work or name

English

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publication date

1 May 1993

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American Journal of Human Genetics

13 October 2019

published in

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13 October 2019

volume

52

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13 October 2019

issue

5

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13 October 2019

page(s)

987-997

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De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).

13 October 2019

cites work

1 reference

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The pattern of radiation-induced transmissible aberrations in a human cell culture

13 July 2018

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Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probes

13 July 2018

1 reference

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Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster

13 July 2018

1 reference

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Contiguous gene syndromes: a component of recognizable syndromes

13 July 2018

1 reference

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Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

Isolation and mapping of a polymorphic DNA sequence (pEKMDA2-I) on chromosome 16 [D16S83]

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

Improved resolution of flow cytometric measurements of Hoechst- and chromomycin-A3-stained human chromosomes after addition of citrate and sulfite

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

Genetic linkage map of 46 DNA markers on human chromosome 16.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

A long-range restriction map between the alpha-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

A primary map of 24 loci on human chromosome 16.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

Deletion of 16q with prolonged survival and unusual radiographic manifestations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

A YAC contig across the fragile X site defines the region of fragility

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

Painting of defined chromosomal regions by in situ suppression hybridization of libraries from laser-microdissected chromosomes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

An oncogenic chromosome 8-9 gene fusion isolated following transfection of human ovarian carcinoma cell line DNA.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

Construction and characterization of plasmid libraries enriched in sequences from single human chromosomes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

Simultaneous visualization of seven different DNA probes by in situ hybridization using combinatorial fluorescence and digital imaging microscopy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

Fluorescent in situ identification of human marker chromosomes using flow sorting and Alu element-mediated PCR

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

A hypervariable locus D16S309 located at the distal end of 16p.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

Isolation of human minisatellite loci detected by synthetic tandem repeat probes: direct comparison with cloned DNA fingerprinting probes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682036

13 July 2018

The trisomy 9p syndrome

1 reference

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de novo inversion-duplication of 2q35-2qter without growth retardation

13 July 2018

1 reference

12 December 2020

Rapid generation of region specific probes by chromosome microdissection and their application

1 reference

12 December 2020

DNA content and DNA-based centromeric index of the 24 human chromosomes

1 reference

12 December 2020

Partial monosomy of the long arm of chromosome 16 in a malformed newborn: karyotype 46,XX,del(16))q21)

1 reference

12 December 2020

A terminal long arm deletion of chromosome 16 in a dysmorphic infant: 46,XY,del(16) (q22)

1 reference

12 December 2020

The potential of family flow karyotyping for the detection of chromosome abnormalities

1 reference

12 December 2020

Cytogenetic effects of radiotherapy. Breakpoint distribution in induced chromosome aberrations

1 reference

12 December 2020

Study of X chromosome abnormality in XX males using bivariate flow karyotype analysis and flow sorted dot blots

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8488848%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

PubMed publication ID

8488848

1 reference