(Q55425084)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698630%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

title

The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698630%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

main subject

thanatophoric dysplasia

1 reference

A Correa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698630%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Tuan M Vo

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698630%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Y Wang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698630%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

P H Langlois

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698630%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

K Pearson

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698630%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

P A Romitti

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698630%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

G M Shaw

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698630%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

J T Hecht

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698630%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

language of work or name

English

0 references

publication date

1 September 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698630%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

12 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698630%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

volume

146A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698630%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

page(s)

2385-2389

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698630%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

issue

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698630%20AND%20SRC:MED&resulttype=core&format=json

Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia

12 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6034636

The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6034636

Recurrence risk for sibs of children with "sporadic" achondroplasia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6034636

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6034636

Monitoring dominant germ cell mutations using skeletal dysplasias registered in malformation registries: an international feasibility study.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6034636

The natural history of achondroplasia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6034636

Birth prevalence and mutation rate of achondroplasia in the Italian Multicentre Monitoring System for Birth Defects

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6034636

Birth prevalence rates of skeletal dysplasias.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6034636

Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological survey

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6034636

Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6034636

Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6034636

Frequency of prenatal diagnosis of birth defects in Houston, Galveston and the Lower Rio Grande Valley, Texas 1995.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6034636

Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6034636

A reexamination on parental age effect on the occurrence of new mutations for achondroplasia.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6034636

Paternal age and the occurrence of birth defects

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6034636

The birth prevalence rates for the skeletal dysplasias

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6034636

Mortality in achondroplasia

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6034636

Hungarian surveillance of germinal mutations. Lack of detectable increase in indicator conditions caused by germinal mutations following the Chernobyl accident

12 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18698630

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[Detection of fibroblast growth factor receptor 3 gene mutation at nucleotide 1138 site in congenita achondroplasia patients]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18698630

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18698630

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.32485

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698630%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698630%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference