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 *

149 related articles for article (PubMed ID: 38053031)

  • 1. Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2.
    Dong L; Zhang L; Li X; Mei S; Shen Y; Fu L; Zhao S; Tang X; Tang Y
    BMC Pediatr; 2023 Dec; 23(1):616. PubMed ID: 38053031
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family.
    Sun M; Zhang Y; JiyunYang ; Wang Y; Tan H; Wang H; Lei T; Li X; Zhang X; Xiong W; Dou K; Ma Y
    J Assist Reprod Genet; 2020 Sep; 37(9):2159-2170. PubMed ID: 32638265
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of Two Novel
    Lu C; Yang D; Lei C; Wang R; Guo T; Luo H
    Pharmgenomics Pers Med; 2021; 14():1415-1423. PubMed ID: 34785929
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A null allele of Dnaaf2 displays embryonic lethality and mimics human ciliary dyskinesia.
    Cheong A; Degani R; Tremblay KD; Mager J
    Hum Mol Genet; 2019 Aug; 28(16):2775-2784. PubMed ID: 31107948
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. A novel splicing mutation DNAH5 c.13,338 + 5G > C is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification.
    Yao XJ; Chen Q; Yu HP; Ruan DD; Li SJ; Wu M; Liao LS; Lin XF; Fang ZT; Luo JW; Xie BS
    BMC Pulm Med; 2024 Jul; 24(1):343. PubMed ID: 39014333
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Genetics of 67 patients of suspected primary ciliary dyskinesia from India.
    Jat KR; Faruq M; Jindal S; Bari S; Soni A; Sharma P; Mathews S; Shamim U; Ahuja V; Uppilli B; Yadav SC; Lodha R; Arava SK; Kabra SK
    Clin Genet; 2024 Nov; 106(5):650-658. PubMed ID: 39004944
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia.
    Ye Y; Huang Q; Chen L; Yuan F; Liu S; Zhang X; Chen R; Fu Y; Yue Y
    Am J Med Genet A; 2022 Oct; 188(10):3024-3031. PubMed ID: 35869935
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review.
    Gao S; Zhang Q; Feng B; Gu S; Li Z; Sun L; Yao RE; Yu T; Ding Y; Wang X
    Mol Genet Genomic Med; 2023 Sep; 11(9):e2235. PubMed ID: 37469238
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia.
    Wang Y; Tu C; Nie H; Meng L; Li D; Wang W; Zhang H; Lu G; Lin G; Tan YQ; Du J
    J Assist Reprod Genet; 2020 Apr; 37(4):811-820. PubMed ID: 32170493
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia.
    Anderegg L; Im Hof Gut M; Hetzel U; Howerth EW; Leuthard F; Kyöstilä K; Lohi H; Pettitt L; Mellersh C; Minor KM; Mickelson JR; Batcher K; Bannasch D; Jagannathan V; Leeb T
    PLoS Genet; 2019 Sep; 15(9):e1008378. PubMed ID: 31479451
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 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. Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report.
    Al Mutairi F; Alkhalaf R; Alkhorayyef A; Alroqi F; Yusra A; Umair M; Nouf F; Khan A; Meshael A; Hamad A; Monira A; Asiri A; Alhamoudi KM; Alfadhel M
    BMC Pulm Med; 2020 May; 20(1):141. PubMed ID: 32414360
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel CCDC39 mutation causes multiple morphological abnormalities of the flagella in a primary ciliary dyskinesia patient.
    Chen D; Liang Y; Li J; Zhang X; Zheng R; Wang X; Zhang H; Shen Y
    Reprod Biomed Online; 2021 Nov; 43(5):920-930. PubMed ID: 34674941
    [TBL] [Abstract][Full Text] [Related]  

  • 20. CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia.
    Liu L; Zhou K; Song Y; Liu X
    Medicine (Baltimore); 2021 Dec; 100(51):e28275. PubMed ID: 34941110
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.