(Q30451694)

English

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

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scholarly article

1 reference

Europe PubMed Central

18 August 2017

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

1 reference

Europe PubMed Central

18 August 2017

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

esophageal atresia

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

Hermann-Josef Lüdecke

23

object named as

Hermann-Josef Lüdecke

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Johanna Christina Czeschik

4

object named as

Johanna Christina Czeschik

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Bernd Schweiger

object named as

Bernd Schweiger

16

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object named as

Marcel Martin

19

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Bert Callewaert

object named as

Bert Callewaert

6

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22

object named as

Han G Brunner

1 reference

Europe PubMed Central

18 August 2017

author name string

Claudia Voigt

1

1 reference

Europe PubMed Central

18 August 2017

André Mégarbané

2

1 reference

Europe PubMed Central

18 August 2017

Kornelia Neveling

3

1 reference

Europe PubMed Central

18 August 2017

Beate Albrecht

5

1 reference

Europe PubMed Central

18 August 2017

Florian von Deimling

7

1 reference

Europe PubMed Central

18 August 2017

Andreas Hehr

8

1 reference

Europe PubMed Central

18 August 2017

Marie Falkenberg Smeland

9

1 reference

Europe PubMed Central

18 August 2017

Rainer König

10

1 reference

Europe PubMed Central

18 August 2017

Alma Kuechler

11

1 reference

Europe PubMed Central

18 August 2017

Carlo Marcelis

12

1 reference

Europe PubMed Central

18 August 2017

Maria Puiu

13

1 reference

Europe PubMed Central

18 August 2017

Willie Reardon

14

1 reference

Europe PubMed Central

18 August 2017

Hilde Monica Frostad Riise Stensland

15

1 reference

Europe PubMed Central

18 August 2017

Marloes Steehouwer

17

1 reference

Europe PubMed Central

18 August 2017

Christopher Teller

18

1 reference

Europe PubMed Central

18 August 2017

Sven Rahmann

20

1 reference

Europe PubMed Central

18 August 2017

Ute Hehr

21

1 reference

Europe PubMed Central

18 August 2017

Dagmar Wieczorek

24

1 reference

Europe PubMed Central

18 August 2017

publication date

24 July 2013

1 reference

Europe PubMed Central

18 August 2017

Orphanet Journal of Rare Diseases

1 reference

Europe PubMed Central

18 August 2017

8

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18 August 2017

110

1 reference

Europe PubMed Central

18 August 2017

https://scigraph.springernature.com/pub.10.1186/1750-1172-8-110

0 references

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727992

20 June 2018

Human facial dysostoses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727992

20 June 2018

Clinical application of exome sequencing in undiagnosed genetic conditions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727992

20 June 2018

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727992

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727992

20 June 2018

Exome sequencing identifies the cause of a mendelian disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727992

20 June 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727992

20 June 2018

Localization of Prp8, Brr2, Snu114 and U4/U6 proteins in the yeast tri-snRNP by electron microscopy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727992

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727992

20 June 2018

An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727992

20 June 2018

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-110

21 January 2018

Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-110

21 January 2018

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-110

21 January 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727992

26 November 2018

A new autosomal recessive oto-facial syndrome with midline malformations

1 reference

https://pubmed.ncbi.nlm.nih.gov/23879989

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-8-110

1 reference

Europe PubMed Central

18 August 2017

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

18 August 2017

1 reference

Europe PubMed Central

18 August 2017

ResearchGate publication ID

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