BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

272 related articles for article (PubMed ID: 31395617)

  • 1.
    Besse W; Chang AR; Luo JZ; Triffo WJ; Moore BS; Gulati A; Hartzel DN; Mane S; ; Torres VE; Somlo S; Mirshahi T
    J Am Soc Nephrol; 2019 Nov; 30(11):2091-2102. PubMed ID: 31395617
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Heterozygosity of ALG9 in Association with Autosomal Dominant Polycystic Liver Disease.
    Boerrigter MM; Duijzer R; Te Morsche RHM; Drenth JPH
    Genes (Basel); 2023 Sep; 14(9):. PubMed ID: 37761895
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing.
    Lanktree MB; Haghighi A; Guiard E; Iliuta IA; Song X; Harris PC; Paterson AD; Pei Y
    J Am Soc Nephrol; 2018 Oct; 29(10):2593-2600. PubMed ID: 30135240
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease.
    Chebib FT; Jung Y; Heyer CM; Irazabal MV; Hogan MC; Harris PC; Torres VE; El-Zoghby ZM
    Nephrol Dial Transplant; 2016 Jun; 31(6):952-60. PubMed ID: 26932689
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Isolated polycystic liver disease genes define effectors of polycystin-1 function.
    Besse W; Dong K; Choi J; Punia S; Fedeles SV; Choi M; Gallagher AR; Huang EB; Gulati A; Knight J; Mane S; Tahvanainen E; Tahvanainen P; Sanna-Cherchi S; Lifton RP; Watnick T; Pei YP; Torres VE; Somlo S
    J Clin Invest; 2017 May; 127(5):1772-1785. PubMed ID: 28375157
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease.
    Mahboobipour AA; Ala M; Safdari Lord J; Yaghoobi A
    Orphanet J Rare Dis; 2024 Apr; 19(1):175. PubMed ID: 38671465
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Relationship of Seminal Megavesicles, Prostate Median Cysts, and Genotype in Autosomal Dominant Polycystic Kidney Disease.
    Zhang W; Stephens CJ; Blumenfeld JD; Behzadi AH; Donahue S; Bobb WO; Newhouse JH; Rennert H; Zhao Y; Prince MR
    J Magn Reson Imaging; 2019 Mar; 49(3):894-903. PubMed ID: 30230107
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.
    Cornec-Le Gall E; Torres VE; Harris PC
    J Am Soc Nephrol; 2018 Jan; 29(1):13-23. PubMed ID: 29038287
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease.
    Fujimaru T; Mori T; Sekine A; Mandai S; Chiga M; Kikuchi H; Ando F; Mori Y; Nomura N; Iimori S; Naito S; Okado T; Rai T; Hoshino J; Ubara Y; Uchida S; Sohara E
    Clin Genet; 2018 Jul; 94(1):125-131. PubMed ID: 29520754
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Dnajb11-Kidney Disease Develops from Reduced Polycystin-1 Dosage but not Unfolded Protein Response in Mice.
    Ghosh Roy S; Li Z; Guo Z; Long KT; Rehrl S; Tian X; Dong K; Besse W
    J Am Soc Nephrol; 2023 Sep; 34(9):1521-1534. PubMed ID: 37332102
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry.
    Delbarba E; Econimo L; Dordoni C; Martin E; Mazza C; Savoldi G; Alberici F; Scolari F; Izzi C
    J Nephrol; 2022 Mar; 35(2):645-652. PubMed ID: 34357571
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Pancreatic Cysts in Autosomal Dominant Polycystic Kidney Disease: Prevalence and Association with PKD2 Gene Mutations.
    Kim JA; Blumenfeld JD; Chhabra S; Dutruel SP; Thimmappa ND; Bobb WO; Donahue S; Rennert HE; Tan AY; Giambrone AE; Prince MR
    Radiology; 2016 Sep; 280(3):762-70. PubMed ID: 27046073
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.