99 related articles for article (PubMed ID: 16895672)
1. [From Alport syndrome to benign familial hematuria: clinical and genetic aspect].
Maziers N; Dahan K; Pirson Y
Nephrol Ther; 2005 May; 1(2):90-100. PubMed ID: 16895672
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Guidelines for Genetic Testing and Management of Alport Syndrome.
Savige J; Lipska-Zietkiewicz BS; Watson E; Hertz JM; Deltas C; Mari F; Hilbert P; Plevova P; Byers P; Cerkauskaite A; Gregory M; Cerkauskiene R; Ljubanovic DG; Becherucci F; Errichiello C; Massella L; Aiello V; Lennon R; Hopkinson L; Koziell A; Lungu A; Rothe HM; Hoefele J; Zacchia M; Martic TN; Gupta A; van Eerde A; Gear S; Landini S; Palazzo V; Al-Rabadi L; Claes K; Corveleyn A; Van Hoof E; van Geel M; Williams M; Ashton E; Belge H; Ars E; Bierzynska A; Gangemi C; Renieri A; Storey H; Flinter F
Clin J Am Soc Nephrol; 2022 Jan; 17(1):143-154. PubMed ID: 34930753
[TBL] [Abstract][Full Text] [Related]
4. Digenic Alport Syndrome.
Savige J; Renieri A; Ars E; Daga S; Pinto AM; Rothe H; Gale DP; Aksenova M; Cerkauskaite A; Bielska O; Lipska-Zietkiewicz B; Gibson JT
Clin J Am Soc Nephrol; 2022 Nov; 17(11):1697-1706. PubMed ID: 35675912
[TBL] [Abstract][Full Text] [Related]
5. Alport syndrome and Alport kidney diseases - elucidating the disease spectrum.
Puapatanakul P; Miner JH
Curr Opin Nephrol Hypertens; 2024 May; 33(3):283-290. PubMed ID: 38477333
[TBL] [Abstract][Full Text] [Related]
6. Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?
Riedhammer KM; Simmendinger H; Tasic V; Putnik J; Abazi-Emini N; Stajic N; Berutti R; Weidenbusch M; Patzer L; Lungu A; Milosevski-Lomic G; Günthner R; Braunisch MC; Ćomić J; Hoefele J
Clin Genet; 2024 Apr; 105(4):406-414. PubMed ID: 38214412
[TBL] [Abstract][Full Text] [Related]
7. Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.
Kovács G; Kalmár T; Endreffy E; Ondrik Z; Iványi B; Rikker C; Haszon I; Túri S; Sinkó M; Bereczki C; Maróti Z
PLoS One; 2016; 11(3):e0149241. PubMed ID: 26934356
[TBL] [Abstract][Full Text] [Related]
8. Current and Future Therapeutical Options in Alport Syndrome.
Reiterová J; Tesař V
Int J Mol Sci; 2023 Mar; 24(6):. PubMed ID: 36982595
[TBL] [Abstract][Full Text] [Related]
9. A Novel
Graziani L; Minotti C; Carriero ML; Bengala M; Lai S; Terracciano A; Novelli A; Novelli G
Genes (Basel); 2024 May; 15(5):. PubMed ID: 38790225
[TBL] [Abstract][Full Text] [Related]
10. Clinical, histological and molecular characteristics of Alport syndrome in Chinese children.
Zhou L; Xi B; Xu Y; Han Y; Yang Y; Yang J; Wang Y; Qiu L; Zhang Y; Zhou J
J Nephrol; 2023 Jun; 36(5):1415-1423. PubMed ID: 37097554
[TBL] [Abstract][Full Text] [Related]
11. An overview of the multi-pronged approach in the diagnosis of Alport syndrome for 22 children in Northeast China.
Zhang L; Sun BC; Zhao BG; Ma QS
BMC Nephrol; 2020 Jul; 21(1):294. PubMed ID: 32703181
[TBL] [Abstract][Full Text] [Related]
12. Outcome of females with Alport syndrome.
Koyun M; Aksoy GK; Çomak E; Akman S
Pediatr Nephrol; 2022 Aug; 37(8):1937. PubMed ID: 35478268
[No Abstract] [Full Text] [Related]
13. Coexisting presentation of two rare genetic variants of autosomal dominant polycystic kidney disease and Alport syndrome.
Venda J; Henriques A; Leal R; Alves R
BMJ Case Rep; 2024 May; 17(5):. PubMed ID: 38740443
[TBL] [Abstract][Full Text] [Related]
14. The interface of genetics with pathology in alport nephritis.
Liapis H; Jain S
J Am Soc Nephrol; 2013 Dec; 24(12):1925-7. PubMed ID: 24071003
[No Abstract] [Full Text] [Related]
15. Genotype-Phenotype Correlations in Alport Syndrome-A Single-Center Experience.
Lujinschi ȘN; Sorohan BM; Obrișcă B; Vrabie A; Lupușoru G; Achim C; Andronesi AG; Covic A; Ismail G
Genes (Basel); 2024 May; 15(5):. PubMed ID: 38790222
[TBL] [Abstract][Full Text] [Related]
16. Sporadic Case of Heterozygous X-Linked Alport Syndrome.
Zuckerman JE; Srivastava R
Glomerular Dis; 2023; 3(1):126-131. PubMed ID: 37901703
[TBL] [Abstract][Full Text] [Related]
17. Multidisciplinary management improves the genetic diagnosis of hereditary kidney diseases in the next generation sequencing (NGS) era.
Galán Carrillo I; Galbis Martínez L; Martínez V; Roca Meroño S; Ramos F; González Rodríguez JD; Piñero Fernández J; Guillén Navarro E
Nefrologia (Engl Ed); 2024; 44(1):69-76. PubMed ID: 38418364
[TBL] [Abstract][Full Text] [Related]
18. [Precision diagnosis and therapeutic intervention of Alport syndrome].
Di HL; Liu ZH
Zhonghua Yi Xue Za Zhi; 2024 Apr; 104(16):1347-1350. PubMed ID: 38644281
[TBL] [Abstract][Full Text] [Related]
19. Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports.
Gao X; Li M; Wang K; Li Z; Han C
Medicine (Baltimore); 2023 Nov; 102(46):e36057. PubMed ID: 37986374
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]