(Q41929117)

English

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.

scientific article published on 12 November 2014

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25387991%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25387991%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

esophageal atresia

1 reference

based on heuristic

inferred from title

choanal atresia

1 reference

based on heuristic

inferred from title

Franceschetti–Klein syndrome

1 reference

based on heuristic

inferred from title

Maria M Sasiadek

7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25387991%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1

object named as

Robert Smigiel

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25387991%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

6

object named as

Ewa Obersztyn

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25387991%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Dariusz Patkowski

5

object named as

Dariusz Patkowski

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25387991%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

author name string

Natalia Bezniakow

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25387991%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Aleksandra Jakubiak

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25387991%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Michał Błoch

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25387991%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

language of work or name

1 reference

based on heuristic

inferred from title

publication date

12 November 2014

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25387991%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Journal of Applied Genetics

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25387991%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

56

1 reference

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22 February 2020

2

1 reference

Europe PubMed Central

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22 February 2020

199-204

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25387991%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

https://scigraph.springernature.com/pub.10.1007/s13353-014-0255-4

0 references

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

1 reference

https://api.crossref.org/works/10.1007%2FS13353-014-0255-4

21 January 2018

A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate

1 reference

https://api.crossref.org/works/10.1007%2FS13353-014-0255-4

21 January 2018

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

1 reference

https://api.crossref.org/works/10.1007%2FS13353-014-0255-4

21 January 2018

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

1 reference

https://api.crossref.org/works/10.1007%2FS13353-014-0255-4

21 January 2018

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.

1 reference

https://api.crossref.org/works/10.1007%2FS13353-014-0255-4

21 January 2018

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

1 reference

https://api.crossref.org/works/10.1007%2FS13353-014-0255-4

21 January 2018

Human facial dysostoses

1 reference

https://api.crossref.org/works/10.1007%2FS13353-014-0255-4

21 January 2018

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS13353-014-0255-4

21 January 2018

Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/25387991

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new autosomal recessive oto-facial syndrome with midline malformations

1 reference

https://pubmed.ncbi.nlm.nih.gov/25387991

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/25387991

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S13353-014-0255-4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25387991%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25387991%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

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