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 *

147 related articles for article (PubMed ID: 36747106)

  • 21. Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.
    Bustamante-Marin XM; Yin WN; Sears PR; Werner ME; Brotslaw EJ; Mitchell BJ; Jania CM; Zeman KL; Rogers TD; Herring LE; Refabért L; Thomas L; Amselem S; Escudier E; Legendre M; Grubb BR; Knowles MR; Zariwala MA; Ostrowski LE
    Am J Hum Genet; 2019 Feb; 104(2):229-245. PubMed ID: 30665704
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia.
    Djakow J; Svobodová T; Hrach K; Uhlík J; Cinek O; Pohunek P
    Pediatr Pulmonol; 2012 Sep; 47(9):864-75. PubMed ID: 22416021
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A novel
    Mani R; Bouguila J; Ameur SB; Hachicha M; Soua Z; Mabrouk I
    J Genet; 2020; 99():. PubMed ID: 32089523
    [TBL] [Abstract][Full Text] [Related]  

  • 24.
    Zietkiewicz E; Bukowy-Bieryllo Z; Rabiasz A; Daca-Roszak P; Wojda A; Voelkel K; Rutkiewicz E; Pogorzelski A; Rasteiro M; Witt M
    Am J Respir Cell Mol Biol; 2019 Oct; 61(4):440-449. PubMed ID: 30916986
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11.
    Shoemark A; Burgoyne T; Kwan R; Dixon M; Patel MP; Rogers AV; Onoufriadis A; Scully J; Daudvohra F; Cullup T; Loebinger MR; Wilson R; Chung EMK; Bush A; Mitchison HM; Hogg C
    Eur Respir J; 2018 Feb; 51(2):. PubMed ID: 29467202
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Genetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing.
    Cho EH; Ki CS; Yun SA; Kim SY; Jhun BW; Koh WJ; Huh HJ; Lee NY
    Yonsei Med J; 2021 Mar; 62(3):224-230. PubMed ID: 33635012
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects.
    Cho EH; Huh HJ; Jeong I; Lee NY; Koh WJ; Park HC; Ki CS
    Clin Genet; 2020 Jul; 98(1):64-68. PubMed ID: 32185794
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Impact of primary ciliary dyskinesia: Beyond sinobronchial syndrome in Japan.
    Keicho N; Hijikata M; Miyabayashi A; Wakabayashi K; Yamada H; Ito M; Morimoto K
    Respir Investig; 2024 Jan; 62(1):179-186. PubMed ID: 38154292
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia.
    Stevanovic N; Skakic A; Minic P; Sovtic A; Stojiljkovic M; Pavlovic S; Andjelkovic M
    Int J Mol Sci; 2021 Aug; 22(16):. PubMed ID: 34445527
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.
    Zariwala MA; Leigh MW; Ceppa F; Kennedy MP; Noone PG; Carson JL; Hazucha MJ; Lori A; Horvath J; Olbrich H; Loges NT; Bridoux AM; Pennarun G; Duriez B; Escudier E; Mitchison HM; Chodhari R; Chung EM; Morgan LC; de Iongh RU; Rutland J; Pradal U; Omran H; Amselem S; Knowles MR
    Am J Respir Crit Care Med; 2006 Oct; 174(8):858-66. PubMed ID: 16858015
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia.
    Ing A; Wlodaver A; Kirschmann D; Toledo E; McCabe C; Kadri S; McIntyre MK; Salazar J; Firestein K; Charrow J; Sanders V; Laguna T; Yap KL
    Cold Spring Harb Mol Case Stud; 2021 Feb; 7(1):. PubMed ID: 33608380
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype.
    Schultz R; Elenius V; Lukkarinen H; Saarela T
    BMC Med Genet; 2020 Nov; 21(1):237. PubMed ID: 33243178
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A Japanese Case of Primary Ciliary Dyskinesia with DNAH5 Mutations.
    Orimo M; Kondo M; Takeyama K; Abe K; Miyoshi A; Honda N; Ichikawa A; Takeuchi K; Tagaya E
    Intern Med; 2019 Aug; 58(16):2383-2386. PubMed ID: 31118369
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Identification of the human ortholog of the t-complex-encoded protein TCTE3 and evaluation as a candidate gene for primary ciliary dyskinesia.
    Neesen J; Drenckhahn JD; Tiede S; Burfeind P; Grzmil M; Konietzko J; Dixkens C; Kreutzberger J; Laccone F; Omran H
    Cytogenet Genome Res; 2002; 98(1):38-44. PubMed ID: 12584439
    [TBL] [Abstract][Full Text] [Related]  

  • 37. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
    Merveille AC; Davis EE; Becker-Heck A; Legendre M; Amirav I; Bataille G; Belmont J; Beydon N; Billen F; Clément A; Clercx C; Coste A; Crosbie R; de Blic J; Deleuze S; Duquesnoy P; Escalier D; Escudier E; Fliegauf M; Horvath J; Hill K; Jorissen M; Just J; Kispert A; Lathrop M; Loges NT; Marthin JK; Momozawa Y; Montantin G; Nielsen KG; Olbrich H; Papon JF; Rayet I; Roger G; Schmidts M; Tenreiro H; Towbin JA; Zelenika D; Zentgraf H; Georges M; Lequarré AS; Katsanis N; Omran H; Amselem S
    Nat Genet; 2011 Jan; 43(1):72-8. PubMed ID: 21131972
    [TBL] [Abstract][Full Text] [Related]  

  • 38. The Drosophila orthologue of the primary ciliary dyskinesia-associated gene, DNAAF3, is required for axonemal dynein assembly.
    Zur Lage P; Xi Z; Lennon J; Hunter I; Chan WK; Bolado Carrancio A; von Kriegsheim A; Jarman AP
    Biol Open; 2021 Oct; 10(10):. PubMed ID: 34553759
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.
    Mabrouk I; Al-Harthi N; Mani R; Montantin G; Tissier S; Lagha R; Ben Abdallah F; Hassan MM; Alhomrani M; Gaber A; Alsanie WF; Ouali H; Jambi FA; Almaghamsi TM; Alqarni NA; Alfarsi NA; Kashgari K; Al-Zahrani HJ; Al-Shamary ZA; Al-Harbi A; Amselem S; Escudier E; Legendre M
    J Hum Genet; 2022 Jul; 67(7):381-386. PubMed ID: 35046476
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Prevalence of chronic rhinosinusitis in bronchiectasis patients suspected of ciliary dyskinesia.
    McCormick JP; Weeks CG; Rivers NJ; Owen JD; Kelly DR; Rowe SM; Solomon GM; Woodworth BA; Cho DY
    Int Forum Allergy Rhinol; 2019 Dec; 9(12):1430-1435. PubMed ID: 31430425
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.