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Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation

Italian journal of pediatrics, 2016-02, Vol.42 (1), p.23-23, Article 23

2016

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Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect

Respiratory research, 2011-08, Vol.12 (112), p.115-115, Article 115

2011

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ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system

Biochemical Society transactions, 2015-10, Vol.43 (5), p.913

2015

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Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension

The European respiratory journal, 2019-08, Vol.54 (2), p.1801965

2019

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Respiratory insufficiency in a newborn with congenital hypothyroidism due to a new mutation of TTF-1/NKX2.1 gene

Pediatric pulmonology, 2014-03, Vol.49 (3), p.E42-E44

2014

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Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations

European journal of human genetics : EJHG, 2015-08, Vol.23 (8), p.1033-1041

2015

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Impaired surfactant protein B synthesis in infants with congenital diaphragmatic hernia

The European respiratory journal, 2013-03, Vol.41 (3), p.677-682

2013

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Ultrastructural Characterization of Genetic Diffuse Lung Diseases in Infants and Children: A Cohort Study and Review

Ultrastructural pathology, 2013-10, Vol.37 (5), p.356-365

2013

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Bronchiectasis and severe respiratory insufficiency associated with a new surfactant protein C mutation

Acta Paediatrica, 2013-01, Vol.102 (1), p.e1-e2

2013

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Erratum: Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations

European journal of human genetics : EJHG, 2016-04, Vol.24 (5), p.780-780

2016

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Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations

European journal of human genetics : EJHG, 2016-05, Vol.24 (5), p.780-780

2016

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PP-117. Measurement of surfactant gene expression on bronchoalveolar lavage: A non-invasive assessment of lung maturity

Early human development, 2010-11, Vol.86, p.S64-S65

2010

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ABCA3 mutation and pulmonary hypertension: A link with alveolar capillary dysplasia?

The Journal of pediatrics, 2008-06, Vol.152 (6), p.891-892

2008

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PP-117. Measurement of surfactant gene expression on bronchoalveolar lavage: A non-invasive assessment of lung maturity

Early human development, 2010, Vol.86, p.S64-S65

2010

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New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3

Pediatrics International, 2015, Vol.57 (5), p.970-974

2015

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ABCA3 mutation and pulmonary hypertension: a link with alveolar capillary dysplasia?

The Journal of pediatrics, 2008, Vol.152 (6), p.891-892

2008

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Bronchiectasis and severe respiratory insufficiency associated with a new surfactant protein C mutation

Acta paediatrica (Oslo, Norway : 1992), 2013, Vol.102 (1), p.e1-e2

2013

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Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation

Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect

ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system

Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension

Respiratory insufficiency in a newborn with congenital hypothyroidism due to a new mutation of TTF-1/NKX2.1 gene

Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations

Impaired surfactant protein B synthesis in infants with congenital diaphragmatic hernia

Ultrastructural Characterization of Genetic Diffuse Lung Diseases in Infants and Children: A Cohort Study and Review

Bronchiectasis and severe respiratory insufficiency associated with a new surfactant protein C mutation

Erratum: Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations

Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations

PP-117. Measurement of surfactant gene expression on bronchoalveolar lavage: A non-invasive assessment of lung maturity

ABCA3 mutation and pulmonary hypertension: A link with alveolar capillary dysplasia?

PP-117. Measurement of surfactant gene expression on bronchoalveolar lavage: A non-invasive assessment of lung maturity

New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3

ABCA3 mutation and pulmonary hypertension: a link with alveolar capillary dysplasia?

Bronchiectasis and severe respiratory insufficiency associated with a new surfactant protein C mutation

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