BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

174 related articles for article (PubMed ID: 30062677)

  • 1. Germline mosaicism is a pitfall in the diagnosis of "sporadic" X-linked Alport syndrome.
    Okamoto T; Nozu K; Iijima K; Ariga T
    J Nephrol; 2019 Feb; 32(1):155-159. PubMed ID: 30062677
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome.
    Aoto Y; Kise T; Nakanishi K; Nagano C; Horinouchi T; Yamamura T; Ishiko S; Sakakibara N; Shima Y; Morisada N; Iijima K; Nozu K
    CEN Case Rep; 2020 Nov; 9(4):431-436. PubMed ID: 32621070
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Female X-linked Alport syndrome with somatic mosaicism.
    Yokota K; Nozu K; Minamikawa S; Yamamura T; Nakanishi K; Kaneda H; Hamada R; Nozu Y; Shono A; Ninchoji T; Morisada N; Ishimori S; Fujimura J; Horinouchi T; Kaito H; Nakanishi K; Morioka I; Taniguchi-Ikeda M; Iijima K
    Clin Exp Nephrol; 2017 Oct; 21(5):877-883. PubMed ID: 27796712
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome.
    Fu XJ; Nozu K; Kaito H; Ninchoji T; Morisada N; Nakanishi K; Yoshikawa N; Ohtsubo H; Matsunoshita N; Kamiyoshi N; Matsumura C; Takagi N; Maekawa K; Taniguchi-Ikeda M; Iijima K
    Eur J Hum Genet; 2016 Mar; 24(3):387-91. PubMed ID: 26014433
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.
    Krol RP; Nozu K; Nakanishi K; Iijima K; Takeshima Y; Fu XJ; Nozu Y; Kaito H; Kanda K; Matsuo M; Yoshikawa N
    Nephrol Dial Transplant; 2008 Aug; 23(8):2525-30. PubMed ID: 18332068
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Re-evaluate Living-donor Kidney Transplantation.
    Pinto AM; Daga S; Fallerini C; Bruttini M; Baldassarri M; Giliberti A; Frullanti E; Guarnieri A; Garosi G; Renieri A
    Transplantation; 2020 Nov; 104(11):2360-2364. PubMed ID: 31895869
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Prenatal diagnosis and genetic counseling of X-linked Alport syndrome in China].
    Zhang HW; Ding J; Wang F; Yang HX
    Zhonghua Er Ke Za Zhi; 2007 Jul; 45(7):484-9. PubMed ID: 17953801
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.
    Horinouchi T; Nozu K; Yamamura T; Minamikawa S; Omori T; Nakanishi K; Fujimura J; Ashida A; Kitamura M; Kawano M; Shimabukuro W; Kitabayashi C; Imafuku A; Tamagaki K; Kamei K; Okamoto K; Fujinaga S; Oka M; Igarashi T; Miyazono A; Sawanobori E; Fujimaru R; Nakanishi K; Shima Y; Matsuo M; Ye MJ; Nozu Y; Morisada N; Kaito H; Iijima K
    J Am Soc Nephrol; 2018 Aug; 29(8):2244-2254. PubMed ID: 29959198
    [TBL] [Abstract][Full Text] [Related]  

  • 9. X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.
    Fu XJ; Nozu K; Eguchi A; Nozu Y; Morisada N; Shono A; Taniguchi-Ikeda M; Shima Y; Nakanishi K; Vorechovsky I; Iijima K
    Clin Exp Nephrol; 2016 Oct; 20(5):699-702. PubMed ID: 26581810
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome.
    Zhang Y; Ding J; Zhang H; Yao Y; Xiao H; Wang S; Wang F
    Mol Genet Genomic Med; 2019 May; 7(5):e647. PubMed ID: 30883042
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Correlation between mRNA expression level of the mutant COL4A5 gene and phenotypes of XLAS females.
    Wang Y; Zhang H; Ding J; Wang F
    Exp Biol Med (Maywood); 2007 May; 232(5):638-42. PubMed ID: 17463160
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Low frequency of parental mosaicism in de novo COL4A5 mutations in X-linked Alport syndrome.
    Helle OMB; Pedersen TH; Ousager LB; Thomassen M; Hertz JM
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1452. PubMed ID: 32812400
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.
    Nabais Sá MJ; Sampaio S; Oliveira A; Alves S; Moura CP; Silva SE; Castro R; Araújo JA; Rodrigues M; Neves F; Seabra J; Soares C; Gaspar MA; Tavares I; Freitas L; Sousa TC; Henriques AC; Costa FT; Morgado E; Sousa FT; Sousa JP; da Costa AG; Filipe R; Garrido J; Montalban J; Ponce P; Alves R; Faria B; Carvalho MF; Pestana M; Carvalho F; Oliveira JP
    Clin Genet; 2015 Nov; 88(5):462-7. PubMed ID: 25307721
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations.
    Mohammad M; Nanra R; Colville D; Trevillian P; Wang Y; Storey H; Flinter F; Savige J
    Pediatr Nephrol; 2014 Mar; 29(3):481-5. PubMed ID: 24337245
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Detection of Very Low-Level Somatic Mosaic
    Deng H; Zhang Y; Ding J; Wang F
    Front Med (Lausanne); 2022; 9():847056. PubMed ID: 35360741
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.
    Tazón-Vega B; Ars E; Burset M; Santín S; Ruíz P; Fernández-Llama P; Ballarín J; Torra R
    Am J Kidney Dis; 2007 Aug; 50(2):257.e1-14. PubMed ID: 17660027
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Prenatal diagnosis and genetic counseling of a Chinese Alport syndrome kindred.
    Zhang H; Ding J; Wang F; Yang H
    Genet Test; 2008 Mar; 12(1):1-7. PubMed ID: 18373399
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Temporal macular thinning associated with X-linked Alport syndrome.
    Ahmed F; Kamae KK; Jones DJ; Deangelis MM; Hageman GS; Gregory MC; Bernstein PS
    JAMA Ophthalmol; 2013 Jun; 131(6):777-82. PubMed ID: 23572034
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families.
    Zhang Y; Ding J; Wang S; Zhang H; Zhong X; Liu X; Xu K; Wang F
    Eur J Hum Genet; 2020 Feb; 28(2):244-252. PubMed ID: 31576025
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.