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Multiple exostoses in a patient with t(8;11)(q24.11;p15.5)
scientific article
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instance of
scholarly article
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title
Multiple exostoses in a patient with t(8;11)(q24.11;p15.5)
(English)
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main subject
patient
1 reference
based on heuristic
litr
hereditary multiple exostoses
1 reference
based on heuristic
litr
author name string
R F Ogle
series ordinal
1
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P Dalzell
series ordinal
2
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G Turner
series ordinal
3
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D Wass
series ordinal
4
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M Y Yip
series ordinal
5
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language of work or name
English
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publication date
December 1991
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published in
Journal of Medical Genetics
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volume
28
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issue
12
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page(s)
881-3
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cites work
The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017169
retrieved
27 September 2017
Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017169
retrieved
27 September 2017
Mental retardation associated with "balanced" chromosome rearrangements
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017169
retrieved
27 September 2017
The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017169
retrieved
30 May 2018
Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017169
retrieved
30 May 2018
Familial multiple exostoses—no chromosome 8 deletion observed
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017169
retrieved
29 November 2018
A final word on the tricho-rhino-phalangeal syndromes
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/1757967
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1136/JMG.28.12.881
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PMC publication ID
1017169
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PubMed publication ID
1757967
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ResearchGate publication ID
21397757
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