220 related articles for article (PubMed ID: 33437033)
1. Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
Mallawaarachchi AC; Lundie B; Hort Y; Schonrock N; Senum SR; Gayevskiy V; Minoche AE; Hollway G; Ohnesorg T; Hinchcliffe M; Patel C; Tchan M; Mallett A; Dinger ME; Rangan G; Cowley MJ; Harris PC; Burnett L; Shine J; Furlong TJ
Eur J Hum Genet; 2021 May; 29(5):760-770. PubMed ID: 33437033
[TBL] [Abstract][Full Text] [Related]
2. Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta.
Ciantar N; Zahra G; Delicata J; Sammut F; Calleja-Agius J; Farrugia E; Said E
Eur J Med Genet; 2024 Jun; 69():104934. PubMed ID: 38537868
[TBL] [Abstract][Full Text] [Related]
3. Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.
Chang AR; Moore BS; Luo JZ; Sartori G; Fang B; Jacobs S; Abdalla Y; Taher M; Carey DJ; Triffo WJ; Singh G; Mirshahi T
JAMA; 2022 Dec; 328(24):2412-2421. PubMed ID: 36573973
[TBL] [Abstract][Full Text] [Related]
4. Exome sequencing of Saudi Arabian patients with ADPKD.
Al-Muhanna FA; Al-Rubaish AM; Vatte C; Mohiuddin SS; Cyrus C; Ahmad A; Shakil Akhtar M; Albezra MA; Alali RA; Almuhanna AF; Huang K; Wang L; Al-Kuwaiti F; Elsalamouni TSA; Al Hwiesh A; Huang X; Keating B; Li J; Lanktree MB; Al-Ali AK
Ren Fail; 2019 Nov; 41(1):842-849. PubMed ID: 31488014
[No Abstract] [Full Text] [Related]
5. PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.
Ali H; Al-Mulla F; Hussain N; Naim M; Asbeutah AM; AlSahow A; Abu-Farha M; Abubaker J; Al Madhoun A; Ahmad S; Harris PC
Sci Rep; 2019 Mar; 9(1):4141. PubMed ID: 30858458
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants.
Nielsen ML; Lildballe DL; Rasmussen M; Bojesen A; Birn H; Sunde L
Eur J Med Genet; 2021 Apr; 64(4):104183. PubMed ID: 33639313
[TBL] [Abstract][Full Text] [Related]
8. Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.
Borràs DM; Vossen RHAM; Liem M; Buermans HPJ; Dauwerse H; van Heusden D; Gansevoort RT; den Dunnen JT; Janssen B; Peters DJM; Losekoot M; Anvar SY
Hum Mutat; 2017 Jul; 38(7):870-879. PubMed ID: 28378423
[TBL] [Abstract][Full Text] [Related]
9. Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.
Mallawaarachchi AC; Hort Y; Cowley MJ; McCabe MJ; Minoche A; Dinger ME; Shine J; Furlong TJ
Eur J Hum Genet; 2016 Nov; 24(11):1584-1590. PubMed ID: 27165007
[TBL] [Abstract][Full Text] [Related]
10. Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.
Audrézet MP; Corbiere C; Lebbah S; Morinière V; Broux F; Louillet F; Fischbach M; Zaloszyc A; Cloarec S; Merieau E; Baudouin V; Deschênes G; Roussey G; Maestri S; Visconti C; Boyer O; Abel C; Lahoche A; Randrianaivo H; Bessenay L; Mekahli D; Ouertani I; Decramer S; Ryckenwaert A; Cornec-Le Gall E; Salomon R; Ferec C; Heidet L
J Am Soc Nephrol; 2016 Mar; 27(3):722-9. PubMed ID: 26139440
[TBL] [Abstract][Full Text] [Related]
11. Atypical ADPKD Due to a
Kachmar J; El-Haffaf Z; Bollée G
Can J Kidney Health Dis; 2023; 10():20543581231203054. PubMed ID: 37867501
[TBL] [Abstract][Full Text] [Related]
12. Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.
Wang T; Li Q; Shang S; Geng G; Xie Y; Cai G; Chen X
Mol Genet Genomic Med; 2019 Jun; 7(6):e720. PubMed ID: 31056860
[TBL] [Abstract][Full Text] [Related]
13. Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.
Suzuki Y; Katayama K; Saiki R; Hirabayashi Y; Murata T; Ishikawa E; Ito M; Dohi K
Genes (Basel); 2023 Feb; 14(2):. PubMed ID: 36833371
[TBL] [Abstract][Full Text] [Related]
14. The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations.
Cornec-Le Gall E; Chebib FT; Madsen CD; Senum SR; Heyer CM; Lanpher BC; Patterson MC; Albright RC; Yu AS; Torres VE; ; Harris PC
Am J Kidney Dis; 2018 Aug; 72(2):302-308. PubMed ID: 29395486
[TBL] [Abstract][Full Text] [Related]
15. Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement.
Orisio S; Noris M; Rigoldi M; Bresin E; Perico N; Trillini M; Donadelli R; Perna A; Benigni A; Remuzzi G
Nephron; 2024; 148(5):273-291. PubMed ID: 37231942
[TBL] [Abstract][Full Text] [Related]
16. Mutational screening of PKD1 and PKD2 in Indian ADPKD patients identified 95 genetic variants.
Raj S; Singh RG; Das P
Mutat Res; 2020; 821():111718. PubMed ID: 32823016
[TBL] [Abstract][Full Text] [Related]
17. Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease.
Durkie M; Chong J; Valluru MK; Harris PC; Ong ACM
Genet Med; 2021 Apr; 23(4):689-697. PubMed ID: 33168999
[TBL] [Abstract][Full Text] [Related]
18. Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
Hoefele J; Mayer K; Scholz M; Klein HG
Nephrol Dial Transplant; 2011 Jul; 26(7):2181-8. PubMed ID: 21115670
[TBL] [Abstract][Full Text] [Related]
19. Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
Mantovani V; Bin S; Graziano C; Capelli I; Minardi R; Aiello V; Ambrosini E; Cristalli CP; Mattiaccio A; Pariali M; De Fanti S; Faletra F; Grosso E; Cantone R; Mancini E; Mencarelli F; Pasini A; Wischmeijer A; Sciascia N; Seri M; La Manna G
Front Genet; 2020; 11():464. PubMed ID: 32457805
[No Abstract] [Full Text] [Related]
20. Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene.
Abdelwahed M; Hilbert P; Ahmed A; Mahfoudh H; Bouomrani S; Dey M; Hachicha J; Kamoun H; Keskes-Ammar L; Belguith N
Gene; 2018 Sep; 671():28-35. PubMed ID: 29860066
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
