(Q73592934)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241532%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241532%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

main subject

thanatophoric dysplasia

1 reference

C P Chen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241532%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

S R Chern

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241532%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

J C Shih

3

1 reference

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5 November 2019

W Wang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241532%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

L F Yeh

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241532%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

T Y Chang

6

1 reference

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5 November 2019

C Y Tzen

7

1 reference

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5 November 2019

publication date

1 February 2001

1 reference

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5 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241532%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241532%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

issue

2

1 reference

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5 November 2019

page(s)

89-95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241532%20AND%20SRC:MED&resulttype=core&format=json

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

Thanatophoric dysplasia and cloverleaf skull

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

Genomic organization of the human fibroblast growth factor receptor 3 (FGFR3) gene and comparative sequence analysis with the mouse Fgfr3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

A common FGFR3 gene mutation in hypochondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

Comparison of clinical-radiological and molecular findings in hypochondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

Clinical and genetic heterogeneity of hypochondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

Antenatal sonographic diagnosis of thanatophoric dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C89%3A%3AAID-PD21%3E3.0.CO%3B2-9

10.1002/1097-0223(200102)21:2<89::AID-PD21>3.0.CO;2-9

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241532%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference