Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. (Q52650343)

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scientific article published on 19 May 2014

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English	Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins.	scientific article published on 19 May 2014

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4107046

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18 March 2020

title

Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins (English)

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Europe PubMed Central

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4107046

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18 March 2020

main subject

alveolar capillary dysplasia

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author

Avinash V Dharmadhikari

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2

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Europe PubMed Central

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4107046

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24842713%20AND%20SRC:MED&resulttype=core&format=json

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18 March 2020

Pawel Stankiewicz

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11

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Paweł Stankiewicz

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Europe PubMed Central

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4107046

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18 March 2020

author name string

Przemyslaw Szafranski

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1

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Europe PubMed Central

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4107046

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18 March 2020

Jennifer A Wambach

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3

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4107046

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18 March 2020

Chris T Towe

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4

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4107046

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18 March 2020

Frances V White

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5

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4107046

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18 March 2020

R Mark Grady

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6

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4107046

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18 March 2020

Pirooz Eghtesady

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7

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4107046

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18 March 2020

F Sessions Cole

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8

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4107046

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18 March 2020

Gail Deutsch

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9

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4107046

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18 March 2020

Partha Sen

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10

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4107046

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18 March 2020

language of work or name

English

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publication date

19 May 2014

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4107046

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18 March 2020

published in

American Journal of Medical Genetics

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4107046

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18 March 2020

volume

164A

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4107046

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18 March 2020

issue

8

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4107046

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18 March 2020

page(s)

2013-2019

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18 March 2020

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Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins

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Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

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A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human

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22 May 2018

Alveolar capillary dysplasia

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22 May 2018

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22 May 2018

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

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22 May 2018

Profound hypoxemia and pulmonary hypertension in a 7-month-old infant: late presentation of alveolar capillary dysplasia

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Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins

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https://pubmed.ncbi.nlm.nih.gov/24842713

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12 December 2020

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Prolonged survival in alveolar capillary dysplasia syndrome

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/24842713

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Misalignment of pulmonary veins and alveolar capillary dysplasia

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24842713

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Late presentation of misalignment of lung vessels with alveolar capillary dysplasia

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24842713

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1002/AJMG.A.36606

1 reference

stated in

Europe PubMed Central

PMC publication ID

4107046

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24842713%20AND%20SRC:MED&resulttype=core&format=json

retrieved

18 March 2020

PMC publication ID

4107046

1 reference

stated in

Europe PubMed Central

PMC publication ID

4107046

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24842713%20AND%20SRC:MED&resulttype=core&format=json

retrieved

18 March 2020

PubMed publication ID

24842713

1 reference

stated in

Europe PubMed Central

PMC publication ID

4107046

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24842713%20AND%20SRC:MED&resulttype=core&format=json

retrieved

18 March 2020

 

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