Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients (Q33412977)

26 July 2017

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

1 reference

26 July 2017

0 references

31

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Stanislas Lyonnet

34

Stanislas Lyonnet

0 references

Tania Attié-Bitach

35

Tania Attié-Bitach

0 references

Christopher T Gordon

Christopher T Gordon

2

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Valérie Malan

Valérie Malan

30

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Didier Lacombe

Didier Lacombe

18

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Florence Petit

Florence Petit

24

0 references

Jeanne Amiel

Jeanne Amiel

36

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Alain Verloes

29

Alain Verloes

1 reference

26 July 2017

26

Robert Smigiel

1 reference

26 July 2017

20

Sandrine Marlin

1 reference

26 July 2017

32

Loïc de Pontual

1 reference

26 July 2017

23

Laurent Pasquier

1 reference

26 July 2017

33

Michel Vekemans

1 reference

26 July 2017

3

Myriam Oufadem

1 reference

26 July 2017

8

Geneviève Baujat

1 reference

26 July 2017

Muriel Holder-Espinasse

16

Muriel Holder-Espinasse

1 reference

26 July 2017

9

Clarisse Baumann

1 reference

26 July 2017

Marie-Line Jacquemont

17

Marie-Line Jacquemont

1 reference

26 July 2017

1

Daphné Lehalle

1 reference

26 July 2017

4

Géraldine Goudefroye

1 reference

26 July 2017

6

Jean-Luc Alessandri

1 reference

26 July 2017

10

Odile Boute-Benejean

1 reference

26 July 2017

11

Roseline Caumes

1 reference

26 July 2017

12

Charles Decaestecker

1 reference

26 July 2017

14

Alice Goldenberg

1 reference

26 July 2017

Sylvie Manouvrier-Hanu

19

Sylvie Manouvrier-Hanu

1 reference

26 July 2017

Michèle Mathieu-Dramard

21

Michèle Mathieu-Dramard

1 reference

26 July 2017

Christel Thauvin-Robinet

27

Christel Thauvin-Robinet

1 reference

26 July 2017

Lucile Boutaud

5

1 reference

26 July 2017

Neus Baena

7

1 reference

26 July 2017

Dominique Gaillard

13

1 reference

26 July 2017

Marie Gonzales

15

1 reference

26 July 2017

Gilles Morin

22

1 reference

26 July 2017

Marlène Rio

25

1 reference

26 July 2017

Alexandre Vasiljevic

28

1 reference

26 July 2017

5 March 2014

1 reference

26 July 2017

1 reference

26 July 2017

35

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26 July 2017

4

1 reference

26 July 2017

478-485

1 reference

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

26 July 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22517

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22517

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22517

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22517

Regulated pre-mRNA splicing: the ghostwriter of the eukaryotic genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22517

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22517

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22517

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22517

Clinical application of exome sequencing in undiagnosed genetic conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22517

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22517

21 January 2018

Human facial dysostoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22517

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?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22517

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?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22517

inferred from DOI database lookup

7 January 2021

based on heuristic

A new autosomal recessive oto-facial syndrome with midline malformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22517

inferred from DOI database lookup

7 January 2021

based on heuristic

Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22517

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22517

1 reference

26 July 2017

1 reference