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A gene for achondroplasia–hypochondroplasia maps to chromosome 4p
scientific article published in March 1994
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8012398
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012398%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
title
A gene for achondroplasia-hypochondroplasia maps to chromosome 4p
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8012398
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012398%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
author
Laurence Legeai-Mallet
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8012398
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012398%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
Anastella Pelet
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8012398
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012398%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
Marek Sanak
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8012398
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012398%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
author name string
Le Merrer M
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8012398
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012398%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
Rousseau F
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8012398
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012398%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
Landais JC
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8012398
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012398%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
Bonaventure J
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8012398
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012398%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
Weissenbach J
series ordinal
8
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8012398
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012398%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
Stoll C
series ordinal
9
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8012398
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012398%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
Munnich A
series ordinal
10
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8012398
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012398%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
language of work or name
English
0 references
publication date
1 March 1994
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8012398
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012398%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
published in
Nature Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8012398
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012398%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
volume
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8012398
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012398%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8012398
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012398%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
page(s)
318-321
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8012398
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012398%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
exact match
https://scigraph.springernature.com/pub.10.1038/ng0394-318
0 references
cites work
Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Achondroplasia-hypochondroplasia complex
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Homozygous achondroplasia: morphologic and biochemical study of cartilage
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Achondroplasia--a genetic and statistical survey
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Birth prevalence rates of skeletal dysplasias.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hypochondroplasia: Clinical and Radiological Aspects in 39 cases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new estimate of the achondroplasia mutation rate
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular analysis of a patient with neurofibromatosis 1 and achondroplasia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A second-generation linkage map of the human genome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Growth characteristics and response to growth hormone therapy in patients with hypochondroplasia: genetic linkage of the insulin-like growth factor I gene at chromosome 12q23 to the disease in a subgroup of these patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)]
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of the human HOX 7 cDNA and identification of polymorphic markers
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The heparin-binding (fibroblast) growth factor family of proteins
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0394-318
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/NG0394-318
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8012398
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012398%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
PubMed publication ID
8012398
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8012398
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012398%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
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