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X-linked dominant chondrodysplasia punctata: a peroxisomal disorder?
scientific article published on 01 July 1998
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
9677071
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9677071%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 November 2019
title
X-linked dominant chondrodysplasia punctata: a peroxisomal disorder?
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
9677071
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9677071%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 November 2019
main subject
chondrodysplasia punctata
1 reference
based on heuristic
inferred from title
author name string
C J Wilson
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
9677071
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9677071%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 November 2019
S Aftimos
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
9677071
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9677071%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 November 2019
publication date
1 July 1998
1 reference
stated in
Europe PubMed Central
PubMed ID
9677071
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9677071%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 November 2019
published in
American Journal of Medical Genetics Part A
1 reference
stated in
Europe PubMed Central
PubMed ID
9677071
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9677071%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 November 2019
volume
78
1 reference
stated in
Europe PubMed Central
PubMed ID
9677071
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9677071%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 November 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed ID
9677071
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9677071%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 November 2019
page(s)
300-302
1 reference
stated in
Europe PubMed Central
PubMed ID
9677071
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9677071%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 November 2019
cites work
Mesomelic dysplasia with punctate epiphyseal calcifications--a new entity of chondrodysplasia punctata?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C300%3A%3AAID-AJMG19%3E3.0.CO%3B2-J
retrieved
21 January 2018
Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hünermann syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C300%3A%3AAID-AJMG19%3E3.0.CO%3B2-J
retrieved
21 January 2018
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C300%3A%3AAID-AJMG19%3E3.0.CO%3B2-J
retrieved
21 January 2018
X-linked dominant chondrodysplasia punctata. Review of literature and report of a case
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C300%3A%3AAID-AJMG19%3E3.0.CO%3B2-J
retrieved
21 January 2018
Lyonization and the lines of Blaschko
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C300%3A%3AAID-AJMG19%3E3.0.CO%3B2-J
retrieved
21 January 2018
X-linked dominant chondrodysplasia punctata/ichthyosis/cataract syndrome in males
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C300%3A%3AAID-AJMG19%3E3.0.CO%3B2-J
retrieved
21 January 2018
A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C300%3A%3AAID-AJMG19%3E3.0.CO%3B2-J
retrieved
21 January 2018
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C300%3A%3AAID-AJMG19%3E3.0.CO%3B2-J
retrieved
21 January 2018
A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C300%3A%3AAID-AJMG19%3E3.0.CO%3B2-J
retrieved
21 January 2018
Clinical and genetic aspects of Conradi-Hünermann disease. A report of three familial cases and review of the literature
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C300%3A%3AAID-AJMG19%3E3.0.CO%3B2-J
retrieved
21 January 2018
Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C300%3A%3AAID-AJMG19%3E3.0.CO%3B2-J
retrieved
21 January 2018
Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C300%3A%3AAID-AJMG19%3E3.0.CO%3B2-J
retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1096-8628(19980707)78:3<300::AID-AJMG19>3.0.CO;2-J
1 reference
stated in
Europe PubMed Central
PubMed ID
9677071
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9677071%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 November 2019
PubMed ID
9677071
1 reference
stated in
Europe PubMed Central
PubMed ID
9677071
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9677071%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 November 2019
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