BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

345 related articles for article (PubMed ID: 23993197)

  • 1. Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
    Kott E; Legendre M; Copin B; Papon JF; Dastot-Le Moal F; Montantin G; Duquesnoy P; Piterboth W; Amram D; Bassinet L; Beucher J; Beydon N; Deneuville E; Houdouin V; Journel H; Just J; Nathan N; Tamalet A; Collot N; Jeanson L; Le Gouez M; Vallette B; Vojtek AM; Epaud R; Coste A; Clement A; Housset B; Louis B; Escudier E; Amselem S
    Am J Hum Genet; 2013 Sep; 93(3):561-70. PubMed ID: 23993197
    [TBL] [Abstract][Full Text] [Related]  

  • 2. RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
    Jeanson L; Copin B; Papon JF; Dastot-Le Moal F; Duquesnoy P; Montantin G; Cadranel J; Corvol H; Coste A; Désir J; Souayah A; Kott E; Collot N; Tissier S; Louis B; Tamalet A; de Blic J; Clement A; Escudier E; Amselem S; Legendre M
    Am J Hum Genet; 2015 Jul; 97(1):153-62. PubMed ID: 26073779
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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.
    Onoufriadis A; Shoemark A; Schmidts M; Patel M; Jimenez G; Liu H; Thomas B; Dixon M; Hirst RA; Rutman A; Burgoyne T; Williams C; Scully J; Bolard F; Lafitte JJ; Beales PL; Hogg C; Yang P; Chung EM; Emes RD; O'Callaghan C; ; Bouvagnet P; Mitchison HM
    Hum Mol Genet; 2014 Jul; 23(13):3362-74. PubMed ID: 24518672
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.
    Frommer A; Hjeij R; Loges NT; Edelbusch C; Jahnke C; Raidt J; Werner C; Wallmeier J; Große-Onnebrink J; Olbrich H; Cindrić S; Jaspers M; Boon M; Memari Y; Durbin R; Kolb-Kokocinski A; Sauer S; Marthin JK; Nielsen KG; Amirav I; Elias N; Kerem E; Shoseyov D; Haeffner K; Omran H
    Am J Respir Cell Mol Biol; 2015 Oct; 53(4):563-73. PubMed ID: 25789548
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.
    Knowles MR; Ostrowski LE; Leigh MW; Sears PR; Davis SD; Wolf WE; Hazucha MJ; Carson JL; Olivier KN; Sagel SD; Rosenfeld M; Ferkol TW; Dell SD; Milla CE; Randell SH; Yin W; Sannuti A; Metjian HM; Noone PG; Noone PJ; Olson CA; Patrone MV; Dang H; Lee HS; Hurd TW; Gee HY; Otto EA; Halbritter J; Kohl S; Kircher M; Krischer J; Bamshad MJ; Nickerson DA; Hildebrandt F; Shendure J; Zariwala MA
    Am J Respir Crit Care Med; 2014 Mar; 189(6):707-17. PubMed ID: 24568568
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mice with a Deletion of
    Yin W; Livraghi-Butrico A; Sears PR; Rogers TD; Burns KA; Grubb BR; Ostrowski LE
    Am J Respir Cell Mol Biol; 2019 Sep; 61(3):312-321. PubMed ID: 30896965
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
    El Khouri E; Thomas L; Jeanson L; Bequignon E; Vallette B; Duquesnoy P; Montantin G; Copin B; Dastot-Le Moal F; Blanchon S; Papon JF; Lorès P; Yuan L; Collot N; Tissier S; Faucon C; Gacon G; Patrat C; Wolf JP; Dulioust E; Crestani B; Escudier E; Coste A; Legendre M; Touré A; Amselem S
    Am J Hum Genet; 2016 Aug; 99(2):489-500. PubMed ID: 27486783
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
    Moore DJ; Onoufriadis A; Shoemark A; Simpson MA; zur Lage PI; de Castro SC; Bartoloni L; Gallone G; Petridi S; Woollard WJ; Antony D; Schmidts M; Didonna T; Makrythanasis P; Bevillard J; Mongan NP; Djakow J; Pals G; Lucas JS; Marthin JK; Nielsen KG; Santoni F; Guipponi M; Hogg C; Antonarakis SE; Emes RD; Chung EM; Greene ND; Blouin JL; Jarman AP; Mitchison HM
    Am J Hum Genet; 2013 Aug; 93(2):346-56. PubMed ID: 23891471
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.
    Blanchon S; Legendre M; Bottier M; Tamalet A; Montantin G; Collot N; Faucon C; Dastot F; Copin B; Clement A; Filoche M; Coste A; Amselem S; Escudier E; Papon JF; Louis B
    J Med Genet; 2020 Apr; 57(4):237-244. PubMed ID: 31772028
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.
    Lin J; Yin W; Smith MC; Song K; Leigh MW; Zariwala MA; Knowles MR; Ostrowski LE; Nicastro D
    Nat Commun; 2014 Dec; 5():5727. PubMed ID: 25473808
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
    Olbrich H; Schmidts M; Werner C; Onoufriadis A; Loges NT; Raidt J; Banki NF; Shoemark A; Burgoyne T; Al Turki S; Hurles ME; ; Köhler G; Schroeder J; Nürnberg G; Nürnberg P; Chung EM; Reinhardt R; Marthin JK; Nielsen KG; Mitchison HM; Omran H
    Am J Hum Genet; 2012 Oct; 91(4):672-84. PubMed ID: 23022101
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
    Kott E; Duquesnoy P; Copin B; Legendre M; Dastot-Le Moal F; Montantin G; Jeanson L; Tamalet A; Papon JF; Siffroi JP; Rives N; Mitchell V; de Blic J; Coste A; Clement A; Escalier D; Touré A; Escudier E; Amselem S
    Am J Hum Genet; 2012 Nov; 91(5):958-64. PubMed ID: 23122589
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
    Onoufriadis A; Shoemark A; Munye MM; James CT; Schmidts M; Patel M; Rosser EM; Bacchelli C; Beales PL; Scambler PJ; Hart SL; Danke-Roelse JE; Sloper JJ; Hull S; Hogg C; Emes RD; Pals G; Moore AT; Chung EM; ; Mitchison HM
    J Med Genet; 2014 Jan; 51(1):61-7. PubMed ID: 24203976
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
    Castleman VH; Romio L; Chodhari R; Hirst RA; de Castro SC; Parker KA; Ybot-Gonzalez P; Emes RD; Wilson SW; Wallis C; Johnson CA; Herrera RJ; Rutman A; Dixon M; Shoemark A; Bush A; Hogg C; Gardiner RM; Reish O; Greene ND; O'Callaghan C; Purton S; Chung EM; Mitchison HM
    Am J Hum Genet; 2009 Feb; 84(2):197-209. PubMed ID: 19200523
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.
    Ziętkiewicz E; Bukowy-Bieryłło Z; Voelkel K; Klimek B; Dmeńska H; Pogorzelski A; Sulikowska-Rowińska A; Rutkiewicz E; Witt M
    PLoS One; 2012; 7(3):e33667. PubMed ID: 22448264
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.
    Jeanson L; Thomas L; Copin B; Coste A; Sermet-Gaudelus I; Dastot-Le Moal F; Duquesnoy P; Montantin G; Collot N; Tissier S; Papon JF; Clement A; Louis B; Escudier E; Amselem S; Legendre M
    Hum Mutat; 2016 Aug; 37(8):776-85. PubMed ID: 27120127
    [TBL] [Abstract][Full Text] [Related]  

  • 18. CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia.
    Horani A; Brody SL; Ferkol TW; Shoseyov D; Wasserman MG; Ta-shma A; Wilson KS; Bayly PV; Amirav I; Cohen-Cymberknoh M; Dutcher SK; Elpeleg O; Kerem E
    PLoS One; 2013; 8(8):e72299. PubMed ID: 23991085
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure.
    Shapiro AJ; Leigh MW
    Ultrastruct Pathol; 2017; 41(6):373-385. PubMed ID: 28915070
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.