All individuals with variants in gene SFTPC

51 entries on 1 page. Showing entries 1 - 51.
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00029666 - PubMed: Peca 2015, Journal: Peca 2015 Pat7 F - Italy - - 0 - - SMDP-2 - 1 1 Donatella Peca
00029669 - PubMed: Peca 2015, Journal: Peca 2015 Pat8 M - Italy white - 0 - - SMDP-2 see paper; ... 1 1 Donatella Peca
00029671 - PubMed: Peca 2015, Journal: Peca 2015 - F - Italy - - 0 - - SMDP-2 see paper; ... 1 1 Donatella Peca
00029672 - PubMed: Peca 2015, Journal: Peca 2015 Pat1, asymptomatic heterozygous carrier parent F - Italy white - 0 - - SMDP-2 see paper; ... 1 1 Donatella Peca
00029673 - PubMed: Peca 2015, Journal: Peca 2015 Pat2, asymptomatic heterozygous carrier parent M - Italy - - 0 - - SMDP-2 see paper; ... 1 1 Donatella Peca
00090135 - - - F no France - 00y03m 0 - - SMDP-2 - 1 1 Pascale Fanen
00092294 - PubMed: Peca 2015, Journal: Peca 2015 Pat3 M - Romania white - 0 - - SMDP-2 see paper; … 1 1 Johan den Dunnen
00092295 - PubMed: Peca 2015, Journal: Peca 2015 Pat4, asymptomatic heterozygous carrier parent F - Italy white - 0 - - SMDP-2 see paper; … 1 1 Johan den Dunnen
00092296 - PubMed: Peca 2015, Journal: Peca 2015 Pat5, asymptomatic heterozygous carrier parent M - Italy white - 0 - - SMDP-2 see paper; … 1 1 Johan den Dunnen
00100240 - - - F ? - - - 0 - - SMDP-2 - 1 1 Pascale Fanen
00100241 - PubMed: Nogee 2001, Journal: Nogee 2001 3-generation family, affected child, mother and maternal grandfather F no United States - - 0 - - SMDP-2 see paper; ..., chest radiography showed hyperinflation with increased interstitial markings, open-lung biopsy histologic features resemble most closely cellular or nonspecific interstitial pneumonitis; mother 1y diagnosed with desquamative interstitial pneumonitis treated until 15y with glucocorticoids, lung disease worsened after delivery, died from respiratory failure; maternal grandfather died from lifelong lung disease of unknown cause 1 3 Johan den Dunnen
00100242 - PubMed: Litao 2017, Journal: Litao 2017 2-generation family, 1 affected, healthy parents untested F yes United States Yemeni - 0 - - SMDP-2 see paper; ..., onset symptoms early infancy, progressive respiratory failure with need for prolonged mechanical ventilatory support, 1y-lung transplant 1 1 Johan den Dunnen
00106729 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - ? interstitial lung disease (ILD) 1 1 Johan den Dunnen
00106730 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - ? interstitial lung disease (ILD) 1 1 Johan den Dunnen
00106731 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - ? interstitial lung disease (ILD) 1 1 Johan den Dunnen
00106732 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - ? interstitial lung disease (ILD) 1 1 Johan den Dunnen
00106733 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - ? interstitial lung disease (ILD) 1 1 Johan den Dunnen
00106734 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - ? interstitial lung disease (ILD) 1 1 Johan den Dunnen
00106735 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - ? interstitial lung disease (ILD) 1 1 Johan den Dunnen
00106736 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - ? interstitial lung disease (ILD) 1 1 Johan den Dunnen
00106737 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - ? interstitial lung disease (ILD) 1 1 Johan den Dunnen
00106738 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - ? interstitial lung disease (ILD) 1 1 Johan den Dunnen
00295624 - PubMed: Juge 2017 - M ? France - >48y 0 - - IPF - 1 1 Joanne van der Vis
00296494 FamFPF7-proband PubMed: van Moorsel 2010 - M - Netherlands - >44y 0 - - IPF pulmonary fibrosis/interstitial pneumonitis 1 1 Joanne van der Vis
00296495 FamFPF9-proband PubMed: van Moorsel 2010 - F - Netherlands - >32y 0 - - IPF pulmonary fibrosis/interstitial pneumonitis 1 3 Joanne van der Vis
00296496 FamFPF10-proband PubMed: van Moorsel 2010 - M - Netherlands - 33y 0 - - IPF pulmonary fibrosis/interstitial pneumonitis 1 1 Joanne van der Vis
00296497 FamFPF18-proband PubMed: van Moorsel 2010 - M - Netherlands - 62y 0 - - IPF pulmonary fibrosis/interstitial pneumonitis 1 1 Joanne van der Vis
00296498 FamFPF20-proband PubMed: van Moorsel 2010 - M - Netherlands - 76y 0 - - IPF pulmonary fibrosis/interstitial pneumonitis 1 2 Joanne van der Vis
00296499 FamFPF9-sister PubMed: van Moorsel 2010 - F - Netherlands - >34y 0 - - IPF pulmonary fibrosis/interstitial pneumonitis 1 3 Joanne van der Vis
00296500 FamFPF9-maternal aunt - - F - Netherlands - 76y 0 - - IPF pulmonary fibrosis/interstitial pneumonitis 1 3 Joanne van der Vis
00296501 FamFPF20-nephew - - M - Netherlands - >50y 0 - - IPF pulmonary fibrosis/interstitial pneumonitis 1 2 Joanne van der Vis
00296502 FamFPF76-proband - - F - Netherlands - >60y 0 - - IPF pulmonary fibrosis/interstitial pneumonitis 1 2 Joanne van der Vis
00296503 FamFPF76-daughter - - F - Netherlands - >32y 0 - - IPF pulmonary fibrosis/interstitial pneumonitis 1 2 Joanne van der Vis
00296504 FamFPF87-proband - - F - Netherlands - >55y 0 - - IPF pulmonary fibrosis/interstitial pneumonitis 1 1 Joanne van der Vis
00296505 FamFPF257-proband - - M - Netherlands - >46y 0 - - IPF pulmonary fibrosis/interstitial pneumonitis 1 1 Joanne van der Vis
00296506 - PubMed: Coghlan 2014 - - - - - - 0 - - IPF - 1 1 Joanne van der Vis
00296507 - PubMed: Coghlan 2014 - - - - - - 0 - - IPF - 1 1 Joanne van der Vis
00296508 - PubMed: Coghlan 2014 - - - - - - 0 - - IPF - 1 1 Joanne van der Vis
00296509 - PubMed: Coghlan 2014 - - - - - - 0 - - IPF - 1 1 Joanne van der Vis
00296510 - PubMed: Coghlan 2014 - - - - - - 0 - - IPF - 1 1 Joanne van der Vis
00296511 grandmother proband PubMed: Ono 2011 - F - Japan - >63y 0 - - IPF pulmonary fibrosis/interstitial pneumonitis 1 3 Joanne van der Vis
00296512 mother proband PubMed: Ono 2011 - F - Japan - 41y 0 - - IPF pulmonary fibrosis/interstitial pneumonitis 1 3 Joanne van der Vis
00296513 proband PubMed: Ono 2011 - F - Japan - >18y 0 - - IPF pulmonary fibrosis/interstitial pneumonitis 1 3 Joanne van der Vis
00296514 proband PubMed: Cottin 2011 - F - - - >34y 0 - - IPF combined pulmonary fibrosis and emphysema (CPFE) 1 2 Joanne van der Vis
00296515 daughter proband PubMed: Cottin 2011 - F - - - - 0 - - SMDP-2 - 1 2 Joanne van der Vis
00296516 - PubMed: Fattori 2019 - M - - - >40y 0 - - IPF genetic related IPF/brass instrument/mold induced chronic hypersensitivity pneumonitis 1 1 Joanne van der Vis
00296517 - PubMed: Thomas 2002, PubMed: Chibbar 2004 - M - - - - 0 - - IPF pulmonary fibrosis/interstitial pneumonitis 1 1 Joanne van der Vis
00296518 - PubMed: Guillot 2009 - - - France - - 0 - - IPF pulmonary fibrosis/interstitial pneumonitis 1 1 Joanne van der Vis
00296519 - PubMed: Guillot 2009 - - - France - - 0 - - IPF pulmonary fibrosis/interstitial pneumonitis 1 1 Joanne van der Vis
00296520 - PubMed: Kazzi 2018 - M - - - >27y 0 - - IPF 11 mo: RDS; adult: pulmonary fibrosis/interstitial pneumonitis 1 1 Joanne van der Vis
00296521 - PubMed: Juge 2017 - F - France - >40y 0 - - IPF Reumatoid Arthritis associated Interstitial Pneumonitis 1 1 Joanne van der Vis
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