HuGE Literature Finder
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Records 1-44
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Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.
American journal of respiratory and critical care medicine 2018 Aug . Davis Stephanie D, Rosenfeld Margaret, Lee Hye-Seung, Ferkol Thomas W, Sagel Scott D, Dell Sharon D, Milla Carlos, Pittman Jessica E, Shapiro Adam J, Sullivan Kelli M, Nykamp Keith R, Krischer Jeffrey P, Zariwala Maimoona A, Knowles Michael R, Leigh Margaret W, |
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[Expression of serum interleukin-13 and significance of gene polymorphism on the patients with bronchiectasis in acute exacerbation period].
Zhonghua yi xue za zhi 2017 Jan 97 (4): 280-284. Yue W X, Chen Y S, Xie B S, Li R H, Xu N L, Lin |
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Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.
The Journal of molecular diagnostics : JMD 2016 Sep . Boaretto Francesca, Snijders Deborah, Salvoro Cecilia, Spalletta Ambra, Mostacciuolo Maria Luisa, Collura Mirella, Cazzato Salvatore, Girosi Donatella, Silvestri Michela, Rossi Giovanni Arturo, Barbato Angelo, Vazza Giovan |
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FUT2 genotype influences lung function, exacerbation frequency and airway microbiota in non-CF bronchiectasis.
Thorax 2016 Aug . Taylor Steven L, Woodman Richard J, Chen Alice Ch, Burr Lucy D, Gordon David L, McGuckin Michael A, Wesselingh Steve, Rogers Geraint |
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Association of Single Nucleotide Polymorphisms of PADI4 and HLA-DRB1 Alleles with Susceptibility to Rheumatoid Arthritis-Related Lung Diseases.
Lung 2016 Jul . Song Seung Taek, Kim Song Soo, Kim Ji Young, Lee So Young, Kim Kwangwoo, Kwon In Sun, Kim Ji Na, Park Won Hong, Yoo In Seol, Yoo Su-Jin, Kim Jin Hyun, Kang Seong Wook, Shim Seung-Che |
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Enlarged Dural Sac in Idiopathic Bronchiectasis Implicates Heritable Connective Tissue Gene Variants.
Annals of the American Thoracic Society 2016 Jul . Daniels M Leigh Anne, Birchard Katherine R, Lowe Jared R, Patrone Michael V, Noone Peadar G, Knowles Michael |
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The Multiple Faces of Non-Cystic Fibrosis Bronchiectasis: A Cluster Analysis Approach.
Annals of the American Thoracic Society 2016 Jun . Martínez-García Miguel A, Vendrell Montserrat, Girón Rosa, Máiz-Carro Luis, de la Rosa Carrillo David, de Gracia Javier, Olveira Casil |
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Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015.
Orphanet journal of rare diseases 2016 11 (1): 75. Greulich Timm, Nell Christoph, Herr Christian, Vogelmeier Claus, Kotke Viktor, Wiedmann Stefan, Wencker Marion, Bals Robert, Koczulla Andreas Rembe |
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ZMYND10 - Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia.
PloS one 2016 11 (1): e0148067. Kurkowiak Ma?gorzata, Zi?tkiewicz Ewa, Greber Agnieszka, Voelkel Katarzyna, Wojda Alina, Pogorzelski Andrzej, Witt Mich |
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Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.
American journal of respiratory cell and molecular biology 2015 Mar . Frommer Adrien, Hjeij Rim, Loges Niki T, Edelbusch Christine, Jahnke Charlotte, Raidt Johanna, Werner Claudius, Wallmeier Julia, Große-Onnebrink Jörg, Olbrich Heike, Cindri? Sandra, Jaspers Martine, Boon Mieke, Memari Yasin, Durbin Richard, Kolb-Kokocinski Anja, Sauer Sascha, Marthin June K, Nielsen Kim G, Amirav Israel, Elias Nael, Eitan Kerem, Shoseyov David, Haeffner Karsten, Omran Heym |
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Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype.
American journal of respiratory and critical care medicine 2015 Feb 191 (3): 316-24. Davis Stephanie D, Ferkol Thomas W, Rosenfeld Margaret, Lee Hye-Seung, Dell Sharon D, Sagel Scott D, Milla Carlos, Zariwala Maimoona A, Pittman Jessica E, Shapiro Adam J, Carson Johnny L, Krischer Jeffrey P, Hazucha Milan J, Cooper Matthew L, Knowles Michael R, Leigh Margaret |
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Low ficolin-2 levels in common variable immunodeficiency patients with bronchiectasis.
Clinical and experimental immunology 2015 Feb 179 (2): 256-64. Metzger M-L, Michelfelder I, Goldacker S, Melkaoui K, Litzman J, Guzman D, Grimbacher B, Salzer |
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Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia.
Pediatric pulmonology 2015 Feb 50 (2): 179-86. Pifferi Massimo, Bush Andrew, Michelucci Angela, Di Cicco Maria, Piras Martina, Caramella Davide, Mazzei Federica, Neri Maria, Pioggia Giovanni, Tartarisco Gennaro, Saggese Giuseppe, Simi Paolo, Boner Attilio |
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Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
The European respiratory journal 2014 Dec 44 (6): 1579-88. Raidt Johanna, Wallmeier Julia, Hjeij Rim, Onnebrink Jörg Große, Pennekamp Petra, Loges Niki T, Olbrich Heike, Häffner Karsten, Dougherty Gerard W, Omran Heymut, Werner Claudi |
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Lack of association between KIR and HLA-C type and susceptibility to idiopathic bronchiectasis.
Respiratory medicine 2014 Aug 108 (8): 1127-33. McDonnell M J, Anwar G A, Rutherford R M, De Soyza A, Worthy S, Corris P A, Lordan J L, Bourke S, Afolabi G, Ward C, Middleton P, Middleton |
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Neutrophil elastase gene polymorphisms: modulators of response to therapy in childhood bronchiectasis?
Lung 2014 Aug 192 (4): 595-9. Nikolic Aleksandra, Milosevic Katarina, Boskovic Srdjan, Nestorovic Branim |
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Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.
Human molecular genetics 2014 Jul 23 (13): 3362-74. Onoufriadis Alexandros, Shoemark Amelia, Schmidts Miriam, Patel Mitali, Jimenez Gina, Liu Hui, Thomas Biju, Dixon Mellisa, Hirst Robert A, Rutman Andrew, Burgoyne Thomas, Williams Christopher, Scully Juliet, Bolard Florence, Lafitte Jean-Jacques, Beales Philip L, Hogg Claire, Yang Pinfen, Chung Eddie M K, Emes Richard D, O'Callaghan Christopher, , Bouvagnet Patrice, Mitchison Hannah |
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[Genetic aspects of male infertility].
Georgian medical news 2014 Apr (229): 21-5. Authors are not available |
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p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?
Journal of human genetics 2014 Apr 59 (4): 206-10. Martinez Brigitte, Heller Marion, Gaitch Natacha, Hubert Dominique, Burgel Pierre-Regis, Levy Philippe, Girodon Emmanuelle, Bienvenu Thier |
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Poor survival in rheumatoid arthritis associated with bronchiectasis: a family-based cohort study.
PloS one 2014 9 (10): e110066. Puéchal Xavier, Génin Emmanuelle, Bienvenu Thierry, Le Jeunne Claire, Dusser Daniel |
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Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.
Journal of medical genetics 2013 Jul 50 (7): 455-62. Trujillano D, Ramos M D, González J, Tornador C, Sotillo F, Escaramis G, Ossowski S, Armengol L, Casals T, Estivill |
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Matrix metalloproteinase-1 polymorphism (-1607G) and disease severity in non-cystic fibrosis bronchiectasis in Taiwan.
PloS one 2013 8 (6): e66265. Hsieh Meng-Heng, Chou Pai-Chien, Chou Chun-Liang, Ho Shu-Chuan, Joa Wen-Ching, Chen Li-Fei, Sheng Te-Fang, Lin Horng-Chyuan, Wang Tsai-Yu, Chang Po-Jui, Wang Chun-Hua, Kuo Han-P |
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Alpha-1-antitrypsin deficiency in Serbian adults with lung diseases.
Genetic testing and molecular biomarkers 2012 Nov 16 (11): 1282-6. Topic Aleksandra, Stankovic Marija, Divac-Rankov Aleksandra, Petrovic-Stanojevic Natasa, Mitic-Milikic Marija, Nagorni-Obradovic Ljudmila, Radojkovic Dragi |
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Prevalence and impact on FEV(1) decline of chronic methicillin-resistant Staphylococcus aureus (MRSA) colonization in patients with cystic fibrosis. A single-center, case control study of 165 patients.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2012 Jan 11 (1): 2-7. Vanderhelst E, De Meirleir L, Verbanck S, Piérard D, Vincken W, Malfroot |
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Mutations of the cystic fibrosis gene in patients with bronchiectasis associated with rheumatoid arthritis.
Annals of the rheumatic diseases 2011 Apr 70 (4): 653-9. Puéchal Xavier, Bienvenu Thierry, Génin Emmanuelle, Berthelot Jean-Marie, Sibilia Jean, Gaudin Philippe, Marcelli Christian, Lasbleiz Sandra, Michou Laëtitia, Cornélis François, Kahan André, Dusser Daniel |
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Nasal nitric oxide and nitric oxide synthase expression in primary ciliary dyskinesia.
The European respiratory journal 2011 Mar 37 (3): 572-7. Pifferi M, Bush A, Maggi F, Michelucci A, Ricci V, Conidi M E, Cangiotti A M, Bodini A, Simi P, Macchia P, Boner A |
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Cystic fibrosis transmembrane conductance regulator channel dysfunction in non-cystic fibrosis bronchiectasis.
American journal of respiratory and critical care medicine 2010 May 181 (10): 1078-84. Bienvenu Thierry, Sermet-Gaudelus Isabelle, Burgel Pierre-Regis, Hubert Dominique, Crestani Bruno, Bassinet Laurence, Dusser Daniel, Fajac Isabel |
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Development of novel microarray methodology for the study of mutations in the SERPINA1 and ADRB2 genes--their association with Obstructive Pulmonary Disease and Disseminated Bronchiectasis in Greek patients.
Clinical biochemistry 2010 Jan 43 (1-2): 43-50. Papatheodorou Athanasios, Makrythanasis Periklis, Kaliakatsos Marios, Dimakou Aikaterini, Orfanidou Dora, Roussos Charis, Kanavakis Emmanuel, Tzetis Mar |
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Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.
Journal of medical genetics 2009 Apr 46 (4): 281-6. Failly M, Bartoloni L, Letourneau A, Munoz A, Falconnet E, Rossier C, de Santi M M, Santamaria F, Sacco O, DeLozier-Blanchet C D, Lazor R, Blouin J |
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Matrix metalloproteinases gene variants in idiopathic disseminated bronchiectasis.
Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2009 Mar 57 (3): 500-3. Stankovic Marija, Nikolic Aleksandra, Divac Aleksandra, Rakicevic Ljiljana, Tomovic Andrija, Mitic-Milikic Marija, Nagorni-Obradovic Ljudmila, Grujic Milan, Petrovic-Stanojevic Natasa, Andjelic-Jelic Marina, Dopudja-Pantic Vesna, Radojkovic Dragi |
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Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia.
Human reproduction (Oxford, England) 2008 Aug 23 (8): 1957-62. Zuccarello D, Ferlin A, Cazzadore C, Pepe A, Garolla A, Moretti A, Cordeschi G, Francavilla S, Foresta |
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Human leucocyte antigen class II association in idiopathic bronchiectasis, a disease of chronic lung infection, implicates a role for adaptive immunity.
Clinical and experimental immunology 2008 Apr 152 (1): 95-101. Boyton R J, Smith J, Jones M, Reynolds C, Ozerovitch L, Chaudhry A, Wilson R, Rose M, Altmann D |
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Lack of association between matrix metalloproteinase 8 promoter polymorphism and bronchiectasis in Koreans.
Journal of Korean medical science 2007 Aug 22 (4): 667-71. Lee Jiwon, Kim Hye Ryoun, Min Joo Won, Park Jong Sun, Jin Sang Man, Han Sung Koo, Shim Young Soo, Yim Jae Jo |
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The role of TAP1 and TAP2 gene polymorphism in idiopathic bronchiectasis in children.
Pediatric pulmonology 2007 Mar 42 (3): 237-41. Do?ru Deniz, Ozba? Gerçeker Filiz, Yalçin Ebru, Cobano?lu Nazan, Pekcan Sevgi, Ozçelik U?ur, Kiper Nural, Ozgüç Mer |
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Lack of association between the microsatellite polymorphism in intron 2 of human Toll-like receptor 2 gene and bronchiectasis among Koreans.
Respirology (Carlton, Vic.) 2007 Jan 12 (1): 49-53. Kim Hee Joung, Lee Hye Won, Lee Ji Eun, Joh Joon Sung, Han Sung Koo, Shim Young-Soo, Yim Jae-Jo |
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IFN gamma and CXCR-1 gene polymorphisms in idiopathic bronchiectasis.
Tissue antigens 2006 Oct 68 (4): 325-30. Boyton R J, Reynolds C, Wahid F N, Jones M G, Ozerovitch L, Ahmad T, Chaudhry A, Jewell D P, Kon O M, Smith J, Rose M, Newman-Taylor A J, Cole P, Wilson R, Altmann D |
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Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: a pilot study.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2006 Aug 5 (3): 159-64. Ngiam Nicola S P, Chong Samuel S, Shek Lynette P C, Goh Denise L M, Ong K C, Chng S Y, Yeo G H, Goh Daniel Y |
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Study of alpha1-antitrypsin phenotypes frequencies in patients with primary antibody deficiency.
Iranian journal of allergy, asthma, and immunology 2006 Jun 5 (2): 69-74. Fazlollahi Mohammad Reza, Aghamohammadi Asghar, Hosseini Reza Farid, Lotfi Abbas Sahebghadam, Khoshdel Alireza, Farhoudi Abolhassan, Movahedi Masoud, Gharagozlou Mohammad, Mozaffari Habibeh, Zandieh Fariborz, Mansouri Mahboubeh, Ghaffari Javad, Rezaei Ni |
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Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations?
Clinical genetics 2004 Jun 65 (6): 490-5. Casals T, De-Gracia J, Gallego M, Dorca J, Rodríguez-Sanchón B, Ramos M D, Giménez J, Cisteró-Bahima A, Olveira C, Estivill |
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[Allelic variants of the tumor necrosis factor superfamily as markers of the severity of the course of chronic obstructive lung disease and bronchiectatic disease].
Genetika 2004 Apr 40 (4): 545-51. Ianbaeva D G, Korytina G F, Viktorova T |
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A preliminary assessment of alpha-1 antitrypsin S and Z deficiency allele frequencies in common variable immunodeficiency patients with and without bronchiectasis.
Clinical and experimental immunology 2002 Dec 130 (3): 489-94. Sansom M E, Ferry B L, Sherrell Z P M C, Chapel H |
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Pilot detection study of alpha(1) antitrypsin deficiency in a targeted population.
American journal of medical genetics 2001 Sep 103 (1): 69-74. Fleming L E, Oquendo S, Bean J A, Tamer R, Finn S, Wanner |
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CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease.
Human genetics 2001 Mar 108 (3): 216-21. Tzetis M, Efthymiadou A, Strofalis S, Psychou P, Dimakou A, Pouliou E, Doudounakis S, Kanavakis |
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No association of tumor necrosis factor-alpha gene polymorphism and copd in Caucasian smokers and Japanese smokers.
Chest 2001 Jan 119 (1): 315-6. Teramoto S, Ishii |
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- Page last updated:Dec 5, 2019
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