(Q28188022)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343323%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindred (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343323%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

main subject

Jackson–Weiss syndrome

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343323%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

author name string

C Heike

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343323%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

M Seto

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343323%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

A Hing

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343323%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

A Palidin

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343323%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

F Z Hu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343323%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

R A Preston

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343323%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

M Cunningham

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343323%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

language of work or name

English

0 references

publication date

1 May 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343323%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

7 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343323%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

volume

100

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343323%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

page(s)

315-324

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343323%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343323%20AND%20SRC:MED&resulttype=core&format=json

Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome

7 November 2019

cites work

1 reference

Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene

21 January 2018

1 reference

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

21 January 2018

1 reference

Craniosynostosis, midfacial hypoplasia, and foot abnormalities: An autosomal dominant phenotype in a large Amish kindred

21 January 2018

1 reference

Fibroblast growth factor receptor tyrosine kinases: molecular analysis and signal transduction

21 January 2018

1 reference

The ins and outs of fibroblast growth factors

21 January 2018

1 reference

Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability

21 January 2018

1 reference

Genomic organization of the human fibroblast growth factor receptor 2 (FGFR2) gene and comparative analysis of the human FGFR gene family

21 January 2018

1 reference

Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2

21 January 2018

1 reference

Craniosynostoses: phenotypic/molecular correlations

21 January 2018

1 reference

A matter of reading English

21 January 2018

1 reference

Jackson-Weiss syndrome: clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter

21 January 2018

1 reference

Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.1266

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343323%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference