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English
Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4
scientific article published on 01 July 2001
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11471177
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471177%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
title
Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11471177
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471177%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
author name string
P D Cotter
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11471177
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471177%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
S Kaffe
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11471177
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471177%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
L Li
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11471177
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471177%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
I F Gershin
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11471177
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471177%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
K Hirschhorn
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11471177
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471177%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
publication date
1 July 2001
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11471177
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471177%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
published in
American Journal of Medical Genetics Part A
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11471177
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471177%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
volume
102
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11471177
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471177%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11471177
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471177%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
page(s)
76-80
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11471177
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471177%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
cites work
Isolation of a novel mildly repetitive DNA sequence that is predominantly located at the terminus of the short arm of chromosome 4 near the Huntington disease gene
1 reference
stated in
Crossref
reference URL
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21 January 2018
Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q
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reference URL
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21 January 2018
Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies
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21 January 2018
Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19
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21 January 2018
Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature
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21 January 2018
Preliminary phenotypic map of chromosome 4p16 based on 4p deletions.
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21 January 2018
Fine molecular mapping of the 4p16.3 aneuploidy syndromes in four translocation families
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21 January 2018
Inverted duplication of 8p: ten new patients and review of the literature
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21 January 2018
Human megasatellite DNA RS447: copy-number polymorphisms and interspecies conservation.
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21 January 2018
Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization
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Crossref
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21 January 2018
Characterization of an inversion duplication of the short arm of chromosome 8 by fluorescent in situ hybridization.
1 reference
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Crossref
reference URL
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21 January 2018
Four new cases of inverted terminal duplication: a modified hypothesis of mechanism of origin
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21 January 2018
Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies?
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21 January 2018
Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele
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21 January 2018
A novel tandem repeat sequence located on human chromosome 4p: isolation and characterization
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21 January 2018
Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications
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21 January 2018
Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits
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21 January 2018
Pathological consequences of sequence duplications in the human genome
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21 January 2018
Telomere capture stabilizes chromosome breakage
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21 January 2018
Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype
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21 January 2018
D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p).
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Crossref
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21 January 2018
Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization
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21 January 2018
De novo inverted duplication 9p21pter involving telomeric repeated sequences.
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A paternally derived inverted duplication of 7q with evidence of a telomeric deletion
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21 January 2018
Molecular cytogenetic characterization and origin of two de novo duplication 9p cases.
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21 January 2018
Continuous linkage map of human chromosome 14 short tandem repeat polymorphisms
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21 January 2018
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion
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21 January 2018
A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n
1 reference
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Crossref
reference URL
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21 January 2018
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C76%3A%3AAID-AJMG1389%3E3.0.CO%3B2-4
retrieved
21 January 2018
Identifiers
DOI
10.1002/1096-8628(20010722)102:1<76::AID-AJMG1389>3.0.CO;2-4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11471177
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471177%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
PubMed publication ID
11471177
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11471177
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471177%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
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