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)

  • 1. Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia.
    Kim MJ; Kim S; Chae SW; Lee S; Yoon JG; Kim B; Lee JS; Chae JH; Seong MW; Moon J
    J Hum Genet; 2023 Jun; 68(6):369-374. PubMed ID: 36747106
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients.
    Morimoto K; Hijikata M; Zariwala MA; Nykamp K; Inaba A; Guo TC; Yamada H; Truty R; Sasaki Y; Ohta K; Kudoh S; Leigh MW; Knowles MR; Keicho N
    Mol Genet Genomic Med; 2019 Aug; 7(8):e838. PubMed ID: 31270959
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea.
    Hashizume R; Xu Y; Ikejiri M; Gotoh S; Takeuchi K
    J Hum Genet; 2024 Aug; ():. PubMed ID: 39152285
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A case of primary ciliary dyskinesis with DRC1 deletion and literature review: Additional evidence on the founder effect.
    Ohya A; Tomomasa D; Sakura F; Asano T; Arisaka A; Akashi T; van Zelm MC; Morio T; Okada S; Kanegane H
    Pediatr Int; 2024; 66(1):e15808. PubMed ID: 39349394
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1-4 of DRC1 in Japanese patients with recurrent sinopulmonary infection.
    Keicho N; Hijikata M; Morimoto K; Homma S; Taguchi Y; Azuma A; Kudoh S
    Mol Genet Genomic Med; 2020 Jan; 8(1):e1033. PubMed ID: 31701675
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population.
    Takeuchi K; Xu Y; Kitano M; Chiyonobu K; Abo M; Ikegami K; Ogawa S; Ikejiri M; Kondo M; Gotoh S; Nagao M; Fujisawa T; Nakatani K
    Mol Genet Genomic Med; 2020 Mar; 8(3):e1137. PubMed ID: 31960620
    [TBL] [Abstract][Full Text] [Related]  

  • 7. DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient.
    Lei C; Yang D; Wang R; Ding S; Wang L; Guo T; Luo H
    J Hum Genet; 2022 Apr; 67(4):197-201. PubMed ID: 34815526
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.
    Wirschell M; Olbrich H; Werner C; Tritschler D; Bower R; Sale WS; Loges NT; Pennekamp P; Lindberg S; Stenram U; Carlén B; Horak E; Köhler G; Nürnberg P; Nürnberg G; Porter ME; Omran H
    Nat Genet; 2013 Mar; 45(3):262-8. PubMed ID: 23354437
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Expanded phenotype of primary ciliary dyskinesia related to DRC1 pathogenic variant with dysmorphisms and vascular anomalies.
    LeBlanc S; Allain EP; Girouard G; Mallet M; Amor MB
    Am J Med Genet A; 2022 Mar; 188(3):965-969. PubMed ID: 34851034
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
    Marshall CR; Scherer SW; Zariwala MA; Lau L; Paton TA; Stockley T; Jobling RK; Ray PN; Knowles MR; ; Hall DA; Dell SD; Kim RH
    G3 (Bethesda); 2015 Jul; 5(8):1775-81. PubMed ID: 26139845
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Case Report: Whole-Exome Sequencing-Based Copy Number Variation Analysis Identified a Novel
    Liu Y; Lei C; Wang R; Yang D; Yang B; Xu Y; Lu C; Wang L; Ding S; Guo T; Liu S; Luo H
    Front Genet; 2022; 13():940292. PubMed ID: 35873463
    [No Abstract]   [Full Text] [Related]  

  • 12. Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).
    Ziętkiewicz E; Nitka B; Voelkel K; Skrzypczak U; Bukowy Z; Rutkiewicz E; Humińska K; Przystałowska H; Pogorzelski A; Witt M
    Respir Res; 2010 Dec; 11(1):174. PubMed ID: 21143860
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings.
    Oh J; Lee JS; Park MS; Kang YA; Cho HJ; Kim SY; Jung J; Yoon SO; Kim KW
    Yonsei Med J; 2024 Jan; 65(1):48-54. PubMed ID: 38154480
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility.
    Pereira R; Carvalho V; Dias C; Barbosa T; Oliveira J; Alves Â; Oliveira E; Sá R; Sousa M
    J Assist Reprod Genet; 2023 Apr; 40(4):765-778. PubMed ID: 36856967
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.
    Xu Y; Feng G; Yano T; Masuda S; Nagao M; Gotoh S; Ikejiri M; Tanabe M; Takeuchi K
    J Hum Genet; 2023 Jul; 68(7):455-461. PubMed ID: 36864285
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Novel dynein axonemal assembly factor 1 mutations identified using whole‑exome sequencing in patients with primary ciliary dyskinesia.
    Zhou L; Li Z; Du C; Chen C; Sun Y; Gu L; Zhou F; Song Y
    Mol Med Rep; 2020 Dec; 22(6):4707-4715. PubMed ID: 33174003
    [TBL] [Abstract][Full Text] [Related]  

  • 18. High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.
    Nakhleh N; Francis R; Giese RA; Tian X; Li Y; Zariwala MA; Yagi H; Khalifa O; Kureshi S; Chatterjee B; Sabol SL; Swisher M; Connelly PS; Daniels MP; Srinivasan A; Kuehl K; Kravitz N; Burns K; Sami I; Omran H; Barmada M; Olivier K; Chawla KK; Leigh M; Jonas R; Knowles M; Leatherbury L; Lo CW
    Circulation; 2012 May; 125(18):2232-42. PubMed ID: 22499950
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.
    Xiong Y; Xia H; Yuan L; Deng S; Ding Z; Deng H
    J Cell Mol Med; 2021 Sep; 25(18):9028-9037. PubMed ID: 34405951
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.