202 related articles for article (PubMed ID: 37372410)
1. Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of
Ambrosini E; Montanari F; Cristalli CP; Capelli I; La Scola C; Pasini A; Graziano C
Genes (Basel); 2023 Jun; 14(6):. PubMed ID: 37372410
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.
Elisakova V; Merta M; Reiterova J; Baxova A; Kotlas J; Hirschfeldova K; Obeidova L; Tesar V; Stekrova J
BMC Nephrol; 2018 Jul; 19(1):163. PubMed ID: 29973168
[TBL] [Abstract][Full Text] [Related]
5. Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.
Reiterová J; Štekrová J; Merta M; Kotlas J; Elišáková V; Lněnička P; Korabečná M; Kohoutová M; Tesař V
BMC Nephrol; 2013 Mar; 14():59. PubMed ID: 23496908
[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. 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]
8. 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]
9. Prenatal diagnosis of polycystic kidney caused by biallelic hypomorphic variants in the PKD1 gene.
Zheng Y; Wong L; Kwan AHW; Dong Z; Kwok KY; Choy KW; Dai H; Cao Y
Prenat Diagn; 2024 Feb; 44(2):247-250. PubMed ID: 37596871
[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. 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]
12. 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]
13. Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.
Rossetti S; Kubly VJ; Consugar MB; Hopp K; Roy S; Horsley SW; Chauveau D; Rees L; Barratt TM; van't Hoff WG; Niaudet P; Torres VE; Harris PC
Kidney Int; 2009 Apr; 75(8):848-55. PubMed ID: 19165178
[TBL] [Abstract][Full Text] [Related]
14. Co-inheritance of pathogenic variants in PKD1 and PKD2 genes presenting as severe antenatal phenotype of autosomal dominant polycystic kidney disease.
Arora V; Bijarnia-Mahay S; Tiwari V; Bansal S; Gupta P; Setia N; Puri RD; Verma IC
Eur J Med Genet; 2020 Mar; 63(3):103734. PubMed ID: 31349084
[TBL] [Abstract][Full Text] [Related]
15. A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease.
Ali H; Hussain N; Naim M; Zayed M; Al-Mulla F; Kehinde EO; Seaburg LM; Sundsbak JL; Harris PC
BMC Nephrol; 2015 Mar; 16():26. PubMed ID: 25880449
[TBL] [Abstract][Full Text] [Related]
16. New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.
Stekrova J; Reiterova J; Svobodova S; Kebrdlova V; Lnenicka P; Merta M; Viklicky O; Kohoutova M
BMC Med Genet; 2009 Aug; 10():78. PubMed ID: 19686598
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy.
Losekoot M; Ruivenkamp CA; Tholens AP; Grimbergen JE; Vijfhuizen L; Vermeer S; Dijkman HB; Cornelissen EA; Bongers EM; Peters DJ
J Med Genet; 2012 Jan; 49(1):37-40. PubMed ID: 22114106
[TBL] [Abstract][Full Text] [Related]
19. Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Carrera P; Calzavara S; Magistroni R; den Dunnen JT; Rigo F; Stenirri S; Testa F; Messa P; Cerutti R; Scolari F; Izzi C; Edefonti A; Negrisolo S; Benetti E; Alibrandi MT; Manunta P; Boletta A; Ferrari M
Sci Rep; 2016 Aug; 6():30850. PubMed ID: 27499327
[TBL] [Abstract][Full Text] [Related]
20. Population data improves variant interpretation in autosomal dominant polycystic kidney disease.
Mallawaarachchi AC; Furlong TJ; Shine J; Harris PC; Cowley MJ
Genet Med; 2019 Jun; 21(6):1425-1434. PubMed ID: 30369598
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
