(Q50455228)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25512148%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

title

A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25512148%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

main subject

arterial hypertension

0 references

author

Karen E Heath

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25512148%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Jair Tenorio

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25512148%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Manuel López Meseguer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25512148%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Pedro Arias

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25512148%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Rocío Mena

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25512148%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

author name string

P Navas

2

1 reference

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25 February 2020

E Barrios

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25512148%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

L Fernández

4

1 reference

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25 February 2020

J Nevado

5

1 reference

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25 February 2020

C A Quezada

6

1 reference

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25 February 2020

J L Lobo

10

1 reference

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25 February 2020

C Alvarez

11

1 reference

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25 February 2020

P Escribano-Subías

13

1 reference

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25 February 2020

P Lapunzina

14

1 reference

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25 February 2020

publication date

7 January 2015

1 reference

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25 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25512148%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

volume

88

1 reference

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25 February 2020

issue

6

1 reference

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25 February 2020

page(s)

579-583

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25512148%20AND%20SRC:MED&resulttype=core&format=json

Updated clinical classification of pulmonary hypertension.

25 February 2020

cites work

1 reference

Updated Clinical Classification of Pulmonary Hypertension

21 January 2018

1 reference

Molecular mechanisms of pulmonary arterial remodeling

21 January 2018

1 reference

State of the art: advanced imaging of the right ventricle and pulmonary circulation in humans (2013 Grover Conference series)

21 January 2018

1 reference

Heritable forms of pulmonary arterial hypertension

21 January 2018

1 reference

Mutations in the human TBX4 gene cause small patella syndrome

21 January 2018

1 reference

EIF2AK4 mutations in pulmonary capillary hemangiomatosis

21 January 2018

1 reference

EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.

21 January 2018

1 reference

Genetic studies of the Roma (Gypsies): a review

21 January 2018

1 reference

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

21 January 2018

1 reference

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.

21 January 2018

1 reference

The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.

21 January 2018

1 reference

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community

21 January 2018

1 reference

Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.

21 January 2018

1 reference

Hyperoxia synergizes with mutant bone morphogenic protein receptor 2 to cause metabolic stress, oxidant injury, and pulmonary hypertension.

21 January 2018

1 reference

Loss of the eukaryotic initiation factor 2α kinase general control nonderepressible 2 protects mice from pressure overload-induced congestive heart failure without affecting ventricular hypertrophy.

21 January 2018

1 reference

Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network

21 January 2018

1 reference

High prevalence of theW24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss

21 January 2018

1 reference

Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies

21 January 2018

1 reference

Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12549

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25512148%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

1 reference