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

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

(2011) S. Ono et al.   EUROPEAN RESPIRATORY JOURNAL

Surfactant Protein C Mutations Are the Basis of a Significant Portion of Adult Familial Pulmonary Fibrosis in a Dutch Cohort

(2010) Coline H. M. van Moorsel et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Characteristics of disorders associated with genetic mutations of surfactant protein C

(2010) G. Thouvenin et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Phenomics: the next challenge

(2010) David Houle et al.   NATURE REVIEWS GENETICS

Interstitial lung diseases in children

(2010) Annick Clement et al.   Orphanet Journal of Rare Diseases

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

(2009) A. Carre et al.   HUMAN MOLECULAR GENETICS

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

(2009) Loïc Guillot et al.   HUMAN MUTATION

New surfactant protein C gene mutations associated with diffuse lung disease

(2009) L Guillot et al.   JOURNAL OF MEDICAL GENETICS

Incidence and classification of pediatric diffuse parenchymal lung diseases in Germany

(2009) Matthias Griese et al.   Orphanet Journal of Rare Diseases

BPOLD: Errors in incidence?

(2009) Twiss Jacob   PEDIATRIC PULMONOLOGY

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

(2009) Rola Abou Taam et al.   PEDIATRIC PULMONOLOGY

Identification and characterization of a novel ABCA3 mutation

(2009) Sang-Kyu Park et al.   PHYSIOLOGICAL GENOMICS

Usual Interstitial Pneumonia in an Adolescent With ABCA3 Mutations*

(2008) Lisa R. Young et al.   CHEST

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

(2008) A. Laverty et al.   PEDIATRIC PULMONOLOGY

Childhood sarcoidosis: long-term follow-up

(2007) N. Milman et al.   EUROPEAN RESPIRATORY JOURNAL