Etiology
Senum SR,
Li YSM,
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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;
Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies,
Harris PC
Am J Hum Genet
2022 Jan 6;109(1):136-156.
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Rinkel GJ,
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Cornec-Le Gall E,
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Lancet
2019 Mar 2;393(10174):919-935.
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Bachmann-Gagescu R,
Dempsey JC,
Phelps IG,
O'Roak BJ,
Knutzen DM,
Rue TC,
Ishak GE,
Isabella CR,
Gorden N,
Adkins J,
Boyle EA,
de Lacy N,
O'Day D,
Alswaid A,
Ramadevi A R,
Lingappa L,
Lourenço C,
Martorell L,
Garcia-Cazorla À,
Ozyürek H,
Haliloğlu G,
Tuysuz B,
Topçu M;
University of Washington Center for Mendelian Genomics,
Chance P,
Parisi MA,
Glass IA,
Shendure J,
Doherty D
J Med Genet
2015 Aug;52(8):514-22.
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Deltas C,
Hosking A,
Kmoch S,
Rampoldi L,
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Devuyst O;
Kidney Disease: Improving Global Outcomes
Kidney Int
2015 Oct;88(4):676-83.
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Diagnosis
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;
Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies,
Harris PC
Am J Hum Genet
2022 Jan 6;109(1):136-156.
Epub 2021 Dec 9
doi: 10.1016/j.ajhg.2021.11.016.
PMID: 34890546Free PMC Article
Devuyst O,
Olinger E,
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Eckardt KU,
Kmoch S,
Rampoldi L,
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Nat Rev Dis Primers
2019 Sep 5;5(1):60.
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Cornec-Le Gall E,
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Lancet
2019 Mar 2;393(10174):919-935.
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PMID: 30819518
Bergmann C,
Guay-Woodford LM,
Harris PC,
Horie S,
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Nat Rev Dis Primers
2018 Dec 6;4(1):50.
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Eckardt KU,
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Antignac C,
Bleyer AJ,
Chauveau D,
Dahan K,
Deltas C,
Hosking A,
Kmoch S,
Rampoldi L,
Wiesener M,
Wolf MT,
Devuyst O;
Kidney Disease: Improving Global Outcomes
Kidney Int
2015 Oct;88(4):676-83.
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Therapy
Chebib FT,
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2023 May;30(3):261-284.
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Perumareddi P,
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Prim Care
2020 Dec;47(4):673-689.
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Cornec-Le Gall E,
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Lancet
2019 Mar 2;393(10174):919-935.
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Yheskel M,
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Curr Opin Nephrol Hypertens
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Prognosis
Lanktree MB,
Haghighi A,
di Bari I,
Song X,
Pei Y
Clin J Am Soc Nephrol
2021 May 8;16(5):790-799.
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Cornec-Le Gall E,
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Lancet
2019 Mar 2;393(10174):919-935.
Epub 2019 Feb 25
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PMID: 30819518
Gray RE,
Harris GT
Am Fam Physician
2019 Feb 1;99(3):179-184.
PMID: 30702258
Bergmann C,
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Horie S,
Peters DJM,
Torres VE
Nat Rev Dis Primers
2018 Dec 6;4(1):50.
doi: 10.1038/s41572-018-0047-y.
PMID: 30523303Free PMC Article
Eckardt KU,
Alper SL,
Antignac C,
Bleyer AJ,
Chauveau D,
Dahan K,
Deltas C,
Hosking A,
Kmoch S,
Rampoldi L,
Wiesener M,
Wolf MT,
Devuyst O;
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Kidney Int
2015 Oct;88(4):676-83.
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PMID: 25738250
Clinical prediction guides
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,
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2021 May;29(5):760-770.
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Olinger E,
Hofmann P,
Kidd K,
Dufour I,
Belge H,
Schaeffer C,
Kipp A,
Bonny O,
Deltas C,
Demoulin N,
Fehr T,
Fuster DG,
Gale DP,
Goffin E,
Hodaňová K,
Huynh-Do U,
Kistler A,
Morelle J,
Papagregoriou G,
Pirson Y,
Sandford R,
Sayer JA,
Torra R,
Venzin C,
Venzin R,
Vogt B,
Živná M,
Greka A,
Dahan K,
Rampoldi L,
Kmoch S,
Bleyer AJ Sr,
Devuyst O
Kidney Int
2020 Sep;98(3):717-731.
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Gray RE,
Harris GT
Am Fam Physician
2019 Feb 1;99(3):179-184.
PMID: 30702258
Bachmann-Gagescu R,
Dempsey JC,
Phelps IG,
O'Roak BJ,
Knutzen DM,
Rue TC,
Ishak GE,
Isabella CR,
Gorden N,
Adkins J,
Boyle EA,
de Lacy N,
O'Day D,
Alswaid A,
Ramadevi A R,
Lingappa L,
Lourenço C,
Martorell L,
Garcia-Cazorla À,
Ozyürek H,
Haliloğlu G,
Tuysuz B,
Topçu M;
University of Washington Center for Mendelian Genomics,
Chance P,
Parisi MA,
Glass IA,
Shendure J,
Doherty D
J Med Genet
2015 Aug;52(8):514-22.
Epub 2015 Jun 19
doi: 10.1136/jmedgenet-2015-103087.
PMID: 26092869Free PMC Article
Eckardt KU,
Alper SL,
Antignac C,
Bleyer AJ,
Chauveau D,
Dahan K,
Deltas C,
Hosking A,
Kmoch S,
Rampoldi L,
Wiesener M,
Wolf MT,
Devuyst O;
Kidney Disease: Improving Global Outcomes
Kidney Int
2015 Oct;88(4):676-83.
Epub 2015 Mar 4
doi: 10.1038/ki.2015.28.
PMID: 25738250