Genetic basis for childhood interstitial lung disease among Japanese infants and children

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

(2016) Przemyslaw Szafranski et al.   HUMAN GENETICS

Interstitial Lung Disease in Children Younger Than 2 Years

(2016) P. Spagnolo et al.   PEDIATRICS

A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins

(2015) Yukie Ito et al.   EUROPEAN JOURNAL OF PEDIATRICS

Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent

(2015) Shin Hayashi et al.   JOURNAL OF HUMAN GENETICS

Hereditary interstitial lung diseases manifesting in early childhood in Japan

(2014) Takuma Akimoto et al.   PEDIATRIC RESEARCH

Genetic testing in children with surfactant dysfunction

(2013) S. Turcu et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Heterogeneous Pulmonary Phenotypes Associated With Mutations in the Thyroid Transcription Factor Gene NKX2-1

(2013) Aaron Hamvas et al.   CHEST

NovelFOXF1Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

(2013) Partha Sen et al.   HUMAN MUTATION

Standardized serum GM-CSF autoantibody testing for the routine clinical diagnosis of autoimmune pulmonary alveolar proteinosis

(2013) Kanji Uchida et al.   JOURNAL OF IMMUNOLOGICAL METHODS

Serum KL-6 is a predictor of outcome in pulmonary alveolar proteinosis

(2013) Francesco Bonella et al.   Orphanet Journal of Rare Diseases

Benign hereditary chorea: dopaminergic brain imaging in patients with a novel intronic NKX2.1 gene mutation

(2012) Takashi Konishi et al.   JOURNAL OF NEUROLOGY

Hypoperfusion in caudate nuclei in patients with brain–lung–thyroid syndrome

(2011) Mitsugu Uematsu et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Surfactant Dysfunction

(2011) W. Adam Gower et al.   Paediatric Respiratory Reviews

Transcription Factor Mutations and Congenital Hypothyroidism: Systematic Genetic Screening of a Population-Based Cohort of Japanese Patients

(2010) Satoshi Narumi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Neonatal respiratory failure due to a novel mutation in the surfactant protein C gene

(2010) B S Poterjoy et al.   Journal of Perinatology

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

(2009) Paweł Stankiewicz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

New surfactant protein C gene mutations associated with diffuse lung disease

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

Mutation of a Gene for Thyroid Transcription Factor-1 (TITF1) in a Patient with Clinical Features of Resistance to Thyrotropin

(2008) Keisuke NAGASAKI et al.   ENDOCRINE JOURNAL

Familial pulmonary alveolar proteinosis caused by mutations inCSF2RA

(2008) Takuji Suzuki et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2008) Sheikh Ahmed et al.   Pediatric Critical Care Medicine

Population and Disease-Based Prevalence of the Common Mutations Associated With Surfactant Deficiency

(2008) Tami H Garmany et al.   PEDIATRIC RESEARCH