Donatella Peca

Rome, Italy

Last Updated: 09/26/2026

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Found 11 publications

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

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

Journal: The European respiratory journal

Published: October 17, 2018

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.

Journal: European journal of human genetics : EJHG

Published: April 15, 2016

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

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

Journal: Biochemical Society transactions

Published: October 31, 2015

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

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

Journal: Italian journal of pediatrics

Published: September 09, 2015

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

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

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: October 06, 2014

Ultrastructural characterization of genetic diffuse lung diseases in infants and children: a cohort study and review.

Ultrastructural characterization of genetic diffuse lung diseases in infants and children: a cohort study and review.

Journal: Ultrastructural pathology

Published: September 20, 2013

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.

Journal: European journal of human genetics : EJHG

Published: May 16, 2013

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

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

Journal: Pediatric pulmonology

Published: November 22, 2012

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

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

Journal: Acta paediatrica (Oslo, Norway : 1992)

Published: October 03, 2012

Impaired surfactant protein B synthesis in infants with congenital diaphragmatic hernia.

Impaired surfactant protein B synthesis in infants with congenital diaphragmatic hernia.

Journal: The European respiratory journal

Published: June 16, 2012

Interstitial lung disease in a child heterozygous for the 1549C-->GAA (121ins2) mutation of surfactant protein B.

Interstitial lung disease in a child heterozygous for the 1549C-->GAA (121ins2) mutation of surfactant protein B.

Journal: The European respiratory journal

Published: October 04, 2011

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Last Updated: 09/26/2026