These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

772 related articles for article (PubMed ID: 17059358)

  • 1. Genetic defects in ciliary structure and function.
    Zariwala MA; Knowles MR; Omran H
    Annu Rev Physiol; 2007; 69():423-50. PubMed ID: 17059358
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Ciliary defects and genetics of primary ciliary dyskinesia.
    Escudier E; Duquesnoy P; Papon JF; Amselem S
    Paediatr Respir Rev; 2009 Jun; 10(2):51-4. PubMed ID: 19410201
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Ciliopathy with special emphasis on kartageners syndrome.
    Ul Hassan A; Hassan G; Khan SH; Rasool Z; Abida A
    Int J Health Sci (Qassim); 2009 Jan; 3(1):65-9. PubMed ID: 21475513
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.
    Knowles MR; Leigh MW; Carson JL; Davis SD; Dell SD; Ferkol TW; Olivier KN; Sagel SD; Rosenfeld M; Burns KA; Minnix SL; Armstrong MC; Lori A; Hazucha MJ; Loges NT; Olbrich H; Becker-Heck A; Schmidts M; Werner C; Omran H; Zariwala MA;
    Thorax; 2012 May; 67(5):433-41. PubMed ID: 22184204
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics.
    Storm van's Gravesande K; Omran H
    Ann Med; 2005; 37(6):439-49. PubMed ID: 16203616
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia.
    Bartoloni L; Blouin JL; Maiti AK; Sainsbury A; Rossier C; Gehrig C; She JX; Marron MP; Lander ES; Meeks M; Chung E; Armengot M; Jorissen M; Scott HS; Delozier-Blanchet CD; Gardiner RM; Antonarakis SE
    Genomics; 2001 Feb; 72(1):21-33. PubMed ID: 11247663
    [TBL] [Abstract][Full Text] [Related]  

  • 7. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.
    Loges NT; Olbrich H; Fenske L; Mussaffi H; Horvath J; Fliegauf M; Kuhl H; Baktai G; Peterffy E; Chodhari R; Chung EM; Rutman A; O'Callaghan C; Blau H; Tiszlavicz L; Voelkel K; Witt M; Zietkiewicz E; Neesen J; Reinhardt R; Mitchison HM; Omran H
    Am J Hum Genet; 2008 Nov; 83(5):547-58. PubMed ID: 18950741
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.
    Pennarun G; Escudier E; Chapelin C; Bridoux AM; Cacheux V; Roger G; Clément A; Goossens M; Amselem S; Duriez B
    Am J Hum Genet; 1999 Dec; 65(6):1508-19. PubMed ID: 10577904
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
    Knowles MR; Ostrowski LE; Loges NT; Hurd T; Leigh MW; Huang L; Wolf WE; Carson JL; Hazucha MJ; Yin W; Davis SD; Dell SD; Ferkol TW; Sagel SD; Olivier KN; Jahnke C; Olbrich H; Werner C; Raidt J; Wallmeier J; Pennekamp P; Dougherty GW; Hjeij R; Gee HY; Otto EA; Halbritter J; Chaki M; Diaz KA; Braun DA; Porath JD; Schueler M; Baktai G; Griese M; Turner EH; Lewis AP; Bamshad MJ; Nickerson DA; Hildebrandt F; Shendure J; Omran H; Zariwala MA
    Am J Hum Genet; 2013 Oct; 93(4):711-20. PubMed ID: 24055112
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Ciliary defects in healthy subjects, bronchiectasis, and primary ciliary dyskinesia.
    de Iongh RU; Rutland J
    Am J Respir Crit Care Med; 1995 May; 151(5):1559-67. PubMed ID: 7735615
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.
    Zariwala M; Noone PG; Sannuti A; Minnix S; Zhou Z; Leigh MW; Hazucha M; Carson JL; Knowles MR
    Am J Respir Cell Mol Biol; 2001 Nov; 25(5):577-83. PubMed ID: 11713099
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.
    Fliegauf M; Olbrich H; Horvath J; Wildhaber JH; Zariwala MA; Kennedy M; Knowles MR; Omran H
    Am J Respir Crit Care Med; 2005 Jun; 171(12):1343-9. PubMed ID: 15750039
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia.
    Olbrich H; Horváth J; Fekete A; Loges NT; Storm van's Gravesande K; Blum A; Hörmann K; Omran H
    Pediatr Res; 2006 Mar; 59(3):418-22. PubMed ID: 16492982
    [TBL] [Abstract][Full Text] [Related]  

  • 14. PCD Detect: enhancing ciliary features through image averaging and classification.
    Shoemark A; Pinto AL; Patel MP; Daudvohra F; Hogg C; Mitchison HM; Burgoyne T
    Am J Physiol Lung Cell Mol Physiol; 2020 Dec; 319(6):L1048-L1060. PubMed ID: 32996775
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
    Loges NT; Antony D; Maver A; Deardorff MA; Güleç EY; Gezdirici A; Nöthe-Menchen T; Höben IM; Jelten L; Frank D; Werner C; Tebbe J; Wu K; Goldmuntz E; Čuturilo G; Krock B; Ritter A; Hjeij R; Bakey Z; Pennekamp P; Dworniczak B; Brunner H; Peterlin B; Tanidir C; Olbrich H; Omran H; Schmidts M
    Am J Hum Genet; 2018 Dec; 103(6):995-1008. PubMed ID: 30471718
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy.
    Bush A; Hogg C
    Expert Rev Respir Med; 2012 Dec; 6(6):663-82. PubMed ID: 23234452
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic causes of bronchiectasis: primary ciliary dyskinesia.
    Morillas HN; Zariwala M; Knowles MR
    Respiration; 2007; 74(3):252-63. PubMed ID: 17534128
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report.
    Rocca MS; Piatti G; Michelucci A; Guazzo R; Bertini V; Vinanzi C; Caligo MA; Valetto A; Foresta C
    BMC Med Genet; 2020 Nov; 21(1):220. PubMed ID: 33167880
    [TBL] [Abstract][Full Text] [Related]  

  • 19. C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
    Fassad MR; Shoemark A; le Borgne P; Koll F; Patel M; Dixon M; Hayward J; Richardson C; Frost E; Jenkins L; Cullup T; Chung EMK; Lemullois M; Aubusson-Fleury A; Hogg C; Mitchell DR; Tassin AM; Mitchison HM
    Am J Hum Genet; 2018 May; 102(5):956-972. PubMed ID: 29727692
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
    Fassad MR; Shoemark A; Legendre M; Hirst RA; Koll F; le Borgne P; Louis B; Daudvohra F; Patel MP; Thomas L; Dixon M; Burgoyne T; Hayes J; Nicholson AG; Cullup T; Jenkins L; Carr SB; Aurora P; Lemullois M; Aubusson-Fleury A; Papon JF; O'Callaghan C; Amselem S; Hogg C; Escudier E; Tassin AM; Mitchison HM
    Am J Hum Genet; 2018 Dec; 103(6):984-994. PubMed ID: 30471717
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 39.