(Q36281520)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

title

A national internet-linked based database for pediatric interstitial lung diseases: the French network (English)

1 reference

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5 February 2020

0 references

1 reference

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

author name string

Nadia Nathan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Rola Abou Taam

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Ralph Epaud

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Christophe Delacourt

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Antoine Deschildre

5

1 reference

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5 February 2020

Philippe Reix

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Raphaël Chiron

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Ulrika de Pontbriand

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Jacques Brouard

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Michaël Fayon

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Jean-Christophe Dubus

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Lisa Giovannini-Chami

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

François Bremont

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Katia Bessaci

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Cyril Schweitzer

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Marie-Laure Dalphin

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Christophe Marguet

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Véronique Houdouin

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Françoise Troussier

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Anne Sardet

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Eglantine Hullo

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Isabelle Gibertini

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Malika Mahloul

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Delphine Michon

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Adrien Priouzeau

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Laurie Galeron

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Jean-François Vibert

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Guillaume Thouvenin

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Jacques Deblic

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Annick Clement

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

French RespiRare® Group

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

publication date

15 June 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

Orphanet Journal of Rare Diseases

5 February 2020

published in

1 reference

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5 February 2020

volume

7

1 reference

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5 February 2020

page(s)

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1186/1750-1172-7-40

5 February 2020

exact match

0 references

cites work

Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.

1 reference

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Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred.

30 September 2017

1 reference

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Phenomics: the next challenge

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458912

Interstitial lung diseases in children

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458912

NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome".

30 September 2017

1 reference

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Incidence and classification of pediatric diffuse parenchymal lung diseases in Germany

30 September 2017

1 reference

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Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case

30 September 2017

1 reference

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Genetics of pediatric interstitial lung disease

30 September 2017

1 reference

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Pulmonary haemosiderosis in infants and children

30 September 2017

1 reference

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Milk-induced pulmonary disease in infants (Heiner syndrome).

30 September 2017

1 reference

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30 September 2017

Paediatric sarcoidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458912

ABCA3 gene mutations in newborns with fatal surfactant deficiency

30 September 2017

1 reference

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Childhood sarcoidosis in Denmark 1979-1994: incidence, clinical features and laboratory results at presentation in 48 children

30 September 2017

1 reference

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Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

30 September 2017

1 reference

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Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458912

Characteristics of disorders associated with genetic mutations of surfactant protein C.

30 September 2017

1 reference

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New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes

29 June 2018

1 reference

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Establishment of a web-based registry for rare (orphan) pediatric lung diseases in the United Kingdom: the BPOLD registry.

29 June 2018

1 reference

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BPOLD: errors in incidence?

21 January 2018

1 reference

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New surfactant protein C gene mutations associated with diffuse lung disease.

21 January 2018

1 reference

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Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort.

21 January 2018

1 reference

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Familial interstitial disease with I73T mutation: A mid- and long-term study

21 January 2018

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ABCA3 is critical for lamellar body biogenesis in vivo.

21 January 2018

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21 January 2018

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Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure

21 January 2018

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Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.

21 January 2018

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Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.

21 January 2018

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21 January 2018

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21 January 2018

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Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene

21 January 2018

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22 September 2018

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21 January 2018

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ABCA3 inactivation in mice causes respiratory failure, loss of pulmonary surfactant, and depletion of lung phosphatidylglycerol

21 January 2018

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12 December 2020

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12 December 2020

Usual interstitial pneumonia in an adolescent with ABCA3 mutations

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12 December 2020

[Genetic disorders of surfactant]

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12 December 2020

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12 December 2020

Identifiers

DOI

10.1186/1750-1172-7-40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

5 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22704798%20AND%20SRC:MED&resulttype=core&format=json