171 related articles for article (PubMed ID: 37236798)
1. Genomics in the kidney clinic.
Doctor GT; Gale DP; Chan MM
Clin Med (Lond); 2023 May; 23(3):246-249. PubMed ID: 37236798
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1.
Ayasreh N; Bullich G; Miquel R; Furlano M; Ruiz P; Lorente L; Valero O; García-González MA; Arhda N; Garin I; Martínez V; Pérez-Gómez V; Fulladosa X; Arroyo D; Martínez-Vea A; Espinosa M; Ballarín J; Ars E; Torra R
Am J Kidney Dis; 2018 Sep; 72(3):411-418. PubMed ID: 29784615
[TBL] [Abstract][Full Text] [Related]
4. Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.
Gast C; Marinaki A; Arenas-Hernandez M; Campbell S; Seaby EG; Pengelly RJ; Gale DP; Connor TM; Bunyan DJ; Hodaňová K; Živná M; Kmoch S; Ennis S; Venkat-Raman G
BMC Nephrol; 2018 Oct; 19(1):301. PubMed ID: 30376835
[TBL] [Abstract][Full Text] [Related]
5. A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.
Bullich G; Domingo-Gallego A; Vargas I; Ruiz P; Lorente-Grandoso L; Furlano M; Fraga G; Madrid Á; Ariceta G; Borregán M; Piñero-Fernández JA; Rodríguez-Peña L; Ballesta-Martínez MJ; Llano-Rivas I; Meñica MA; Ballarín J; Torrents D; Torra R; Ars E
Kidney Int; 2018 Aug; 94(2):363-371. PubMed ID: 29801666
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Genetic diagnosis of polycystic kidney disease, Alport syndrome, and thalassemia minor in a large Chinese family.
Miao Y; Xiong J; Zhang X; Huang H; Yu L; Chen J; Deng W; Xu H; Liu R; Xiang C; Xu X; Xiong F
Clin Sci (Lond); 2017 Oct; 131(19):2427-2438. PubMed ID: 28827396
[TBL] [Abstract][Full Text] [Related]
8. Simultaneous adult polycystic kidney disease and Alport syndrome.
Phelan PJ; Fletcher E; Carroll N; Metcalfe W; Turner AN
Nephrology (Carlton); 2016 Aug; 21(8):722-3. PubMed ID: 27436620
[No Abstract] [Full Text] [Related]
9. A multidisciplinary renal genetics clinic improves patient diagnosis.
Mallett A; Fowles LF; McGaughran J; Healy H; Patel C
Med J Aust; 2016 Feb; 204(2):58-9. PubMed ID: 26821098
[No Abstract] [Full Text] [Related]
10. Preimplantation Genetic Testing for Monogenic Kidney Disease.
Snoek R; Stokman MF; Lichtenbelt KD; van Tilborg TC; Simcox CE; Paulussen ADC; Dreesen JCMF; van Reekum F; Lely AT; Knoers NVAM; de Die-Smulders CEM; van Eerde AM
Clin J Am Soc Nephrol; 2020 Sep; 15(9):1279-1286. PubMed ID: 32855195
[TBL] [Abstract][Full Text] [Related]
11. Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3-COL4A5) and Their Association With Other Kidney Conditions: A Review.
Savige J; Harraka P
Am J Kidney Dis; 2021 Dec; 78(6):857-864. PubMed ID: 34245817
[TBL] [Abstract][Full Text] [Related]
12. Autosomal Dominant Tubulointerstitial Kidney Disease-Uromodulin Misclassified as Focal Segmental Glomerulosclerosis or Hereditary Glomerular Disease.
Chun J; Wang M; Wilkins MS; Knob AU; Benjamin A; Bu L; Pollak MR
Kidney Int Rep; 2020 Apr; 5(4):519-529. PubMed ID: 32274456
[TBL] [Abstract][Full Text] [Related]
13. Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Senum SR; Li YSM; Benson KA; Joli G; Olinger E; Lavu S; Madsen CD; Gregory AV; Neatu R; Kline TL; Audrézet MP; Outeda P; Nau CB; Meijer E; Ali H; Steinman TI; Mrug M; Phelan PJ; Watnick TJ; Peters DJM; Ong ACM; Conlon PJ; Perrone RD; Cornec-Le Gall E; Hogan MC; Torres VE; Sayer JA; ; Harris PC
Am J Hum Genet; 2022 Jan; 109(1):136-156. PubMed ID: 34890546
[TBL] [Abstract][Full Text] [Related]
14. Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.
Alzahrani OR; Alatwi HE; Alharbi AA; Alessa AH; Al-Amer OM; Alanazi AFR; Shams AM; Alomari E; Naser AY; Alzahrani FA; Hosawi S; Alghamdi SM; Abdali WA; Elfaki I; Hawsawi YM
Medicina (Kaunas); 2022 Nov; 58(11):. PubMed ID: 36422197
[TBL] [Abstract][Full Text] [Related]
15. Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
Lemoine H; Raud L; Foulquier F; Sayer JA; Lambert B; Olinger E; Lefèvre S; Knebelmann B; Harris PC; Trouvé P; Desprès A; Duneau G; Matignon M; Poyet A; Jourde-Chiche N; Guerrot D; Lemoine S; Seret G; Barroso-Gil M; Bingham C; Gilbert R; ; ; Le Meur Y; Audrézet MP; Cornec-Le Gall E
Am J Hum Genet; 2022 Aug; 109(8):1484-1499. PubMed ID: 35896117
[TBL] [Abstract][Full Text] [Related]
16. Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.
Riedhammer KM; Braunisch MC; Günthner R; Wagner M; Hemmer C; Strom TM; Schmaderer C; Renders L; Tasic V; Gucev Z; Nushi-Stavileci V; Putnik J; Stajić N; Weidenbusch M; Uetz B; Montoya C; Strotmann P; Ponsel S; Lange-Sperandio B; Hoefele J
Am J Kidney Dis; 2020 Oct; 76(4):460-470. PubMed ID: 32359821
[TBL] [Abstract][Full Text] [Related]
17. Autosomal dominant tubulointerstitial kidney disease: a new tool to guide genetic testing.
LaFavers KA; El-Achkar TM
Kidney Int; 2020 Sep; 98(3):549-552. PubMed ID: 32828237
[TBL] [Abstract][Full Text] [Related]
18. Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end-stage renal disease of unknown origin-a single-center analysis.
Leenen E; Erger F; Altmüller J; Wenzel A; Thiele H; Harth A; Tschernoster N; Lokhande S; Joerres A; Becker JU; Ekici A; Huettel B; Beck B; Weidemann A
Nephrol Dial Transplant; 2022 Sep; 37(10):1895-1905. PubMed ID: 35485766
[TBL] [Abstract][Full Text] [Related]
19. Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.
Kamiyoshi N; Nozu K; Fu XJ; Morisada N; Nozu Y; Ye MJ; Imafuku A; Miura K; Yamamura T; Minamikawa S; Shono A; Ninchoji T; Morioka I; Nakanishi K; Yoshikawa N; Kaito H; Iijima K
Clin J Am Soc Nephrol; 2016 Aug; 11(8):1441-1449. PubMed ID: 27281700
[TBL] [Abstract][Full Text] [Related]
20. COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndrome.
Ozdemir G; Gulhan B; Atayar E; Saygılı S; Soylemezoglu O; Ozcakar ZB; Eroglu FK; Candan C; Demir BK; Soylu A; Yüksel S; Alpay H; Agbas A; Duzova A; Hayran M; Ozaltin F; Topaloglu R
Pediatr Nephrol; 2020 Oct; 35(10):1941-1952. PubMed ID: 32394188
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]