522 related articles for article (PubMed ID: 34890546)
1. 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]
2. Monoallelic pathogenic
Dordoni C; Zeni L; Toso D; Mazza C; Mescia F; Cortinovis R; Econimo L; Savoldi G; Alberici F; Scolari F; Izzi C
Clin Kidney J; 2024 Feb; 17(2):sfae026. PubMed ID: 38404363
[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. 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]
5. Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype.
Salhi S; Doreille A; Dancer MS; Boueilh A; Filipozzi P; El Karoui K; Ponce F; Lebre AS; Raymond L; Mesnard L
Am J Kidney Dis; 2024 May; 83(5):688-691. PubMed ID: 37844724
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.
Cornec-Le Gall E; Olson RJ; Besse W; Heyer CM; Gainullin VG; Smith JM; Audrézet MP; Hopp K; Porath B; Shi B; Baheti S; Senum SR; Arroyo J; Madsen CD; Férec C; Joly D; Jouret F; Fikri-Benbrahim O; Charasse C; Coulibaly JM; Yu AS; Khalili K; Pei Y; Somlo S; Le Meur Y; Torres VE; ; ; ; Harris PC
Am J Hum Genet; 2018 May; 102(5):832-844. PubMed ID: 29706351
[TBL] [Abstract][Full Text] [Related]
8. Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.
Yang H; Sieben CJ; Schauer RS; Harris PC
Adv Kidney Dis Health; 2023 Sep; 30(5):397-406. PubMed ID: 38097330
[TBL] [Abstract][Full Text] [Related]
9. Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.
Zhang M; Liu S; Xia X; Cui Y; Li X
Nephrology (Carlton); 2019 May; 24(5):504-510. PubMed ID: 29633482
[TBL] [Abstract][Full Text] [Related]
10. Targeted Next Generation Sequencing Revealed Novel Variants in the
Hosseinpour M; Ardalani F; Mohseni M; Beheshtian M; Arzhangi S; Ossareh S; Najmabadi H; Nobakht A; Kahrizi K; Broumand B
Arch Iran Med; 2022 Sep; 25(9):600-608. PubMed ID: 37543885
[TBL] [Abstract][Full Text] [Related]
11. Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.
Al-Hamed MH; Alsahan N; Rice SJ; Edwards N; Nooreddeen E; Alotaibi M; Kurdi W; Alnemer M; Altaleb N; Ali W; Al-Numair N; Almejaish N; Sayer JA; Imtiaz F
Pediatr Nephrol; 2019 Sep; 34(9):1615-1623. PubMed ID: 31079206
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
Porath B; Gainullin VG; Cornec-Le Gall E; Dillinger EK; Heyer CM; Hopp K; Edwards ME; Madsen CD; Mauritz SR; Banks CJ; Baheti S; Reddy B; Herrero JI; Bañales JM; Hogan MC; Tasic V; Watnick TJ; Chapman AB; Vigneau C; Lavainne F; Audrézet MP; Ferec C; Le Meur Y; Torres VE; ; ; Harris PC
Am J Hum Genet; 2016 Jun; 98(6):1193-1207. PubMed ID: 27259053
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.
Tan AY; Zhang T; Michaeel A; Blumenfeld J; Liu G; Zhang W; Zhang Z; Zhu Y; Rennert L; Martin C; Xiang J; Salvatore SP; Robinson BD; Kapur S; Donahue S; Bobb WO; Rennert H
J Am Soc Nephrol; 2018 Aug; 29(8):2139-2156. PubMed ID: 30042192
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Use of targeted sequence capture and high-throughput sequencing identifies a novel PKD1 mutation involved in adult polycystic kidney disease.
Sha YK; Sha YW; Mei LB; Huang XJ; Wang X; Lin SB; Li L; Li P
Gene; 2017 Nov; 634():1-4. PubMed ID: 28870863
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]