400 related articles for article (PubMed ID: 27796712)
1. 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]
2. 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]
3. 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]
4. 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]
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. 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]
7. 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]
8. Familial hematuria: A review.
Plevová P; Gut J; Janda J
Medicina (Kaunas); 2017; 53(1):1-10. PubMed ID: 28236514
[TBL] [Abstract][Full Text] [Related]
9. Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome.
Beicht S; Strobl-Wildemann G; Rath S; Wachter O; Alberer M; Kaminsky E; Weber LT; Hinrichsen T; Klein HG; Hoefele J
Gene; 2013 Sep; 526(2):474-7. PubMed ID: 23732293
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Non-collagen genes role in digenic Alport syndrome.
Daga S; Fallerini C; Furini S; Pecoraro C; Scolari F; Ariani F; Bruttini M; Mencarelli MA; Mari F; Renieri A; Pinto AM
BMC Nephrol; 2019 Feb; 20(1):70. PubMed ID: 30808327
[TBL] [Abstract][Full Text] [Related]
13. Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.
Malone AF; Funk SD; Alhamad T; Miner JH
Pediatr Nephrol; 2017 Jun; 32(6):997-1003. PubMed ID: 28013382
[TBL] [Abstract][Full Text] [Related]
14. Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain.
Hashimura Y; Nozu K; Kaito H; Nakanishi K; Fu XJ; Ohtsubo H; Hashimoto F; Oka M; Ninchoji T; Ishimori S; Morisada N; Matsunoshita N; Kamiyoshi N; Yoshikawa N; Iijima K
Kidney Int; 2014 May; 85(5):1208-13. PubMed ID: 24304881
[TBL] [Abstract][Full Text] [Related]
15. Collagen type IV nephropathy: genetic heterogeneity examinations in affected Hungarian families.
Endreffy E; Ondrik Z; Iványi B; Maróti Z; Bereczki C; Haszon I; Györke Z; Worum E; Németh K; Rikker C; Ökrös Z; Túri S
Mol Cell Probes; 2011 Feb; 25(1):28-34. PubMed ID: 20951199
[TBL] [Abstract][Full Text] [Related]
16. Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.
Weber S; Strasser K; Rath S; Kittke A; Beicht S; Alberer M; Lange-Sperandio B; Hoyer PF; Benz MR; Ponsel S; Weber LT; Klein HG; Hoefele J
Pediatr Nephrol; 2016 Jun; 31(6):941-55. PubMed ID: 26809805
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically.
Imafuku A; Nozu K; Sawa N; Hasegawa E; Hiramatsu R; Kawada M; Hoshino J; Tanaka K; Ishii Y; Takaichi K; Fujii T; Ohashi K; Iijima K; Ubara Y
Nephrology (Carlton); 2018 Oct; 23(10):940-947. PubMed ID: 28704582
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]