(Q34145029)

31 July 2017

title

Detection of chromosomal aberrations by a whole-genome microsatellite screen (English)

1 reference

31 July 2017

1 reference

whole genome sequencing

1 reference

M J Rosenberg

1 reference

31 July 2017

D Vaske

1 reference

31 July 2017

C E Killoran

1 reference

31 July 2017

Y Ning

1 reference

31 July 2017

D Wargowski

1 reference

31 July 2017

L Hudgins

1 reference

31 July 2017

C J Tifft

1 reference

31 July 2017

J Meck

1 reference

31 July 2017

J K Blancato

1 reference

31 July 2017

K Rosenbaum

1 reference

31 July 2017

R M Pauli

1 reference

31 July 2017

J Weber

1 reference

31 July 2017

L G Biesecker

1 reference

31 July 2017

language of work or name

English

0 references

publication date

1 February 2000

1 reference

American Journal of Human Genetics

31 July 2017

published in

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31 July 2017

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31 July 2017

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31 July 2017

page(s)

419-427

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Multiplex-FISH for pre- and postnatal diagnostic applications

31 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=1288094

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288094

Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288094

Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288094

A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288094

A metric map of humans: 23,500 loci in 850 bands

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288094

Characterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288094

Multicolor Spectral Karyotyping of Human Chromosomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288094

Karyotyping human chromosomes by combinatorial multi-fluor FISH.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288094

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288094

Detection of a subtle rearrangement of chromosome 22 using molecular techniques

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288094

Mutation of human short tandem repeats

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288094

Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288094

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288094

Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288094

Incomplete trisomy 22. II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6;22)(q27;q13)

5 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10677301

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Pathological consequences of sequence duplications in the human genome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10677301

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10677301

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302743

1 reference

31 July 2017

1 reference

31 July 2017

1 reference