397 related articles for article (PubMed ID: 23144074)
1. COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9.
Strasser K; Hoefele J; Bergmann C; Büscher AK; Büscher R; Hoyer PF; Weber S
Nephrol Dial Transplant; 2012 Nov; 27(11):4236-40. PubMed ID: 23144074
[TBL] [Abstract][Full Text] [Related]
2. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
3. Report of a young girl with MYH9 mutation and review of the literature.
Landi D; Lockhart E; Miller SE; Datto M; Rehder C; Kanaly A; Thornburg CD
J Pediatr Hematol Oncol; 2012 Oct; 34(7):538-40. PubMed ID: 23007341
[TBL] [Abstract][Full Text] [Related]
4. Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.
Longo I; Scala E; Mari F; Caselli R; Pescucci C; Mencarelli MA; Speciale C; Giani M; Bresin E; Caringella DA; Borochowitz ZU; Siriwardena K; Winship I; Renieri A; Meloni I
Nephrol Dial Transplant; 2006 Mar; 21(3):665-71. PubMed ID: 16338941
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. [Autosomal dominant macrothrombocytopenia with leukocyte inclusion bodies and MYH9 disorders].
Kunishima S
Rinsho Byori; 2009 Apr; 57(4):365-70. PubMed ID: 19489439
[TBL] [Abstract][Full Text] [Related]
7. X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.
Demosthenous P; Voskarides K; Stylianou K; Hadjigavriel M; Arsali M; Patsias C; Georgaki E; Zirogiannis P; Stavrou C; Daphnis E; Pierides A; Deltas C;
Clin Genet; 2012 Mar; 81(3):240-8. PubMed ID: 21332469
[TBL] [Abstract][Full Text] [Related]
8. Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease.
Sekine T; Konno M; Sasaki S; Moritani S; Miura T; Wong WS; Nishio H; Nishiguchi T; Ohuchi MY; Tsuchiya S; Matsuyama T; Kanegane H; Ida K; Miura K; Harita Y; Hattori M; Horita S; Igarashi T; Saito H; Kunishima S
Kidney Int; 2010 Jul; 78(2):207-14. PubMed ID: 20200500
[TBL] [Abstract][Full Text] [Related]
9. COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.
Ramzan K; Imtiaz F; Taibah K; Alnufiee S; Akhtar M; Al-Hazzaa SA; Al-Owain M
Int J Pediatr Otorhinolaryngol; 2014 Mar; 78(3):427-32. PubMed ID: 24398087
[TBL] [Abstract][Full Text] [Related]
10. [Alport syndrome or progressive hereditary nephritis with hearing loss].
Gubler MC; Heidet L; Antignac C
Nephrol Ther; 2007 Jun; 3(3):113-20. PubMed ID: 17540313
[TBL] [Abstract][Full Text] [Related]
11. Advances in the understanding of MYH9 disorders.
Kunishima S; Saito H
Curr Opin Hematol; 2010 Sep; 17(5):405-10. PubMed ID: 20601875
[TBL] [Abstract][Full Text] [Related]
12. Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study.
Uliana V; Sebastio P; Riva M; Carli D; Ruberto C; Bianchi L; Graziano C; Capelli I; Faletra F; Pillon R; Mattina T; Sensi A; Bonatti F; Percesepe A
Mol Genet Genomic Med; 2021 Feb; 9(2):e1576. PubMed ID: 33369211
[TBL] [Abstract][Full Text] [Related]
13. Clinical, pathological, and genetic analysis of ten patients with MYH9-related disease.
Sun XH; Wang ZY; Yang HY; Cao LJ; Su J; Yu ZQ; Bai X; Ruan CG
Acta Haematol; 2013; 129(2):106-13. PubMed ID: 23207509
[TBL] [Abstract][Full Text] [Related]
14. Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
Gibson JT; Huang M; Shenelli Croos Dabrera M; Shukla K; Rothe H; Hilbert P; Deltas C; Storey H; Lipska-Ziętkiewicz BS; Chan MMY; Sadeghi-Alavijeh O; Gale DP; ; Cerkauskaite A; Savige J
Sci Rep; 2022 Feb; 12(1):2722. PubMed ID: 35177655
[TBL] [Abstract][Full Text] [Related]
15. Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.
Verver EJ; Topsakal V; Kunst HP; Huygen PL; Heller PG; Pujol-Moix N; Savoia A; Benazzo M; Fierro T; Grolman W; Gresele P; Pecci A
Ear Hear; 2016; 37(1):112-20. PubMed ID: 26226608
[TBL] [Abstract][Full Text] [Related]
16. Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness.
Kunishima S; Matsunaga T; Ito Y; Saito H
Genet Test Mol Biomarkers; 2009 Oct; 13(5):705-7. PubMed ID: 19645626
[TBL] [Abstract][Full Text] [Related]
17. COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
Longo I; Porcedda P; Mari F; Giachino D; Meloni I; Deplano C; Brusco A; Bosio M; Massella L; Lavoratti G; Roccatello D; Frascá G; Mazzucco G; Muda AO; Conti M; Fasciolo F; Arrondel C; Heidet L; Renieri A; De Marchi M
Kidney Int; 2002 Jun; 61(6):1947-56. PubMed ID: 12028435
[TBL] [Abstract][Full Text] [Related]
18. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
Heath KE; Campos-Barros A; Toren A; Rozenfeld-Granot G; Carlsson LE; Savige J; Denison JC; Gregory MC; White JG; Barker DF; Greinacher A; Epstein CJ; Glucksman MJ; Martignetti JA
Am J Hum Genet; 2001 Nov; 69(5):1033-45. PubMed ID: 11590545
[TBL] [Abstract][Full Text] [Related]
19. Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.
Slajpah M; Gorinsek B; Berginc G; Vizjak A; Ferluga D; Hvala A; Meglic A; Jaksa I; Furlan P; Gregoric A; Kaplan-Pavlovcic S; Ravnik-Glavac M; Glavac D
Kidney Int; 2007 Jun; 71(12):1287-95. PubMed ID: 17396119
[TBL] [Abstract][Full Text] [Related]
20. Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
Kunishima S; Matsushita T; Kojima T; Amemiya N; Choi YM; Hosaka N; Inoue M; Jung Y; Mamiya S; Matsumoto K; Miyajima Y; Zhang G; Ruan C; Saito K; Song KS; Yoon HJ; Kamiya T; Saito H
J Hum Genet; 2001; 46(12):722-9. PubMed ID: 11776386
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
