Associated Papers
Interstitial Lung Disease and Lung Cancer Associated with a Monoallelic Novel Variant in SFTPB.
Wambach JA et al.
American Journal of Respiratory and Critical Care Medicine, 2025
Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis.
Desroziers T et al.
European Journal of Human Genetics : Ejhg, 2023
Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency.
López-Andreu JA et al.
The Journal of Pediatrics, 2017
[Relationship between R236C site in exon 7 of SP-B gene and respiratory distress syndrome in Han newborns in western Inner Mongolia].
Wang J et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2016
Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation-A Case Report and Review of the Literature.
Kurath-Koller S et al.
Ajp Reports, 2015
Defining the Jr(a-) phenotype in the Japanese population.
Tanaka M et al.
Transfusion, 2014
The JR blood group system (ISBT 032): molecular characterization of three new null alleles.
Hue-Roye K et al.
Transfusion, 2013
Interstitial lung disease in children -- genetic background and associated phenotypes.
Hartl D et al.
Respiratory Research, 2005
Focal congenital alveolar proteinosis associated with abnormal surfactant protein B messenger RNA.
Mildenberger E et al.
Chest, 2001
Prolonged survival in hereditary surfactant protein B (SP-B) deficiency associated with a novel splicing mutation.
Dunbar AE et al.
Pediatric Research, 2000
Aberrant SP-B mRNA in lung tissue of patients with congenital alveolar proteinosis (CAP).
Lin Z et al.
Clinical Genetics, 2000
Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency.
Nogee LM et al.
American Journal of Respiratory and Critical Care Medicine, 2000
Congenital alveolar proteinosis caused by a novel mutation of the surfactant protein B gene and misalignment of lung vessels in consanguineous kindred infants.
Wallot M et al.
European Journal of Pediatrics, 1999
Surfactant protein B deficiency: insights into inherited disorders of lung cell metabolism.
Hamvas A
Current Problems in Pediatrics, 1997
Absence of lamellar bodies with accumulation of dense bodies characterizes a novel form of congenital surfactant defect.
Tryka AF et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0