المؤلفون: Gilbert, Edmund, O’Reilly, Seamus, Merrigan, Michael, McGettingan, Darren, Vitart, Veronique, Joshi, Peter K, Clark, David W, Campbell, Harry, Hayward, Caroline, Ring, Susan M, Golding, Jean, Goodfellow, Stephanie, Navarro, Pau, Kerr, Shona M, Amador, Carmen, Campbell, Archie, Haley, Chris S, Porteous, David J, Cavalleri, Gianpiero L, Wilson, James F, Byrne, RP, van Rheenen, W, Veldink, JH, McLaughlin, RL, Fitzgerald, Joan, Fahey, Laura, Whitton, Laura, Donohoe, Gary, Morris, Derek W, Smyth, LJ, Wooster, C, Kilner, J, Kee, F, Young, I, McGuinness, B, Maxwell, AP, McKay, GJ, McKnight, AJ, Maloney, DM, Chadderton, N, Millington-Ward, S, Farrar, GJ, Lambert, DM, Nguengang-Wakap, S, Olry, A, Rath, A, Murphy, D, Lynch, SA, Treacy, EP, Gunne, E, McGarvey, C, Hamilton, K, Savage, S, Rasheed, E, Rashid, A, Keogh, E, MacNamara, B, Collison, C, Brazil, N, Whatley, S, Crowley, VEF, Murphy, DN, Turner, J, Doyle, Samantha, Abidin, Zaza, Senanayake, Suranga, James, Stephanie, Yap, Mei, Hart, Caroline, Crushell, Ellen, Smyth, Shane, Green, Andrew, Treacy, Eileen, Lynch, Tim, Pastores, Gregory, Laffan, Aoife, O’Byrne, James, Palfi, A, Yesmambetov, A, Ormond, CM, Ryan, NM, Heron, EA, Gill, M, Corvin, AP, Kelly, CM, Doherty, MA, Hengeveld, JC, Campbell, C, Leu, C, Delanty, N, Lal, D, Cavalleri, GL, Angel, CZ, McNally, CJ, McKenna, DJ, Breslin, EM, Cassidy, LM, Martiniano, R, Mattiangeli, V, Silva, AM, Bradley, DG, Kearney, H, Balagura, G, Lewis-Smith, D, Ganesan, S, Gan, J, Galer, PD, Wang, Y, Tan, NCK, Lench, NJ, Steward, CA, Krause, R, Robinson, P, Helbig, I, Finnegan, LK, Kenna, P, Carty, M, Bowie, AG, Whelan, L, Dockery, A, Kenna, PF, Keegan, D, Silvestri, G, Khan, M, Cornelis, SS, Dhaenens, CM, Humphries, P, Cremers, FPM, Roosing, S, Broin, Pilib Ó, Morris, Derek, McVeigh, Úna M, McVeigh, Terri P, Miller, Nicola, Kerin, Michael J, Flaus, Andrew, Irwin, RE, Thursby, SJ, Ondičová, M, Pentieva, K, McNulty, H, Richmond, C, Caffrey, A, Lees-Murdock, DJ, McLaughlin, M, Cassidy, T, Suderman, M, Relton, CL, Walsh, CP, Carrigan, M, Maloney, D, Hanlon, K, Bookey, N, Drago, P, Parle-McDermott, A, Flynn, PM, Toulouse, A, Bermingham, N, Jansen, M, Hand, CK, Skelly, RD, Cole, J, Berkeley, M, Dinneen, Thomas, O’Cónail, A, Kirov, George, Lopez, Lorna M, Gallagher, Louise, Ning, Z, Williams, JM, Kumari, R, Baranov, PV, Moore, T, Bhandari, Sushil, Hillman, Sara, Dolma, Padma, Mukerji, Mitali, Prasher, Bhavana, Montgomery, Hugh E., Gunne, EA, Ward, A, Treacy, E, Lambert, D, Benson, KA, Murray, S, Senum, SR, Kennedy, C, Yachnin, K, Gangadharan, N, Harris, PC, Conlon, P, Zhu, J, Wynne, N, McKenna, C, Humphreys, M, McNerlan, S, Dabir, T, Rea, G, Morrison, PJ, Donnelly, DE, Jeffers, L, Sasaki, E, Kelly, H, Hayes, B, Ryan, K, Carolan, E, Betts, D, Green, A, Sheerin, A, Grabowsky, L, James, S, Senanayake, S, Abidin, Z, O’Byrne, J, Pastores, G, McConnell, V, Bradley, L, Reid, J, Fitzsimons, D, Dempster, M, Pentony, Michaela, Bradley, Lisa, Connor, Pamela O’, Kirk, Claire W, Donnelly, Deirdre E, Hardy, Rachel, Shepherd, Charles W, Morrison, Patrick J, Doyle, S, McVeigh, T, O’Byrne, JJ, Senanayake, SL, Sadok, S, Pastores, GM, Forde, R, Rakovac, A, Abdelfadil, S, Mac Namara, B, O’Connor, P, Heggarty, S, Hart, P, Morgan, NE, Dorris, E, Cummins, E, Adeeb, F, Taylor, C, Savic, S, Killeen, O, Fraser, A, Wilson, AG, Murphy, Jane, Kirk, Claire, Prendiville, Terence, Ward, Deirdre, Galvin, Joseph, Lynch, Sally Ann, Carroll, C, Kirk, C, Murphy, J, Duff, M, Mooney, E, Clark, T, King, C, Fallah, L, Hinde, J

المصدر: The Ulster Medical Journal

مصطلحات موضوعية: Poster Presentations, Abstracts, Oral Presentations

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmc_________::3eecc81c898a75d048206c6167b78e50
http://europepmc.org/articles/PMC7027180

المؤلفون: Ali H; Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Health Sciences Center (HSC), Kuwait University, Jabriya, Kuwait.; Department of Genetics and Bioinformatics, Dasman Diabetes Institute (DDI), Dasman, Kuwait.; Division of Nephrology, Mubarak Al-Kabeer Hospital, Ministry of Health, Jabriya, Kuwait., Alahmad B; Department of Environmental Health, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA., Senum SR; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.; Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, Minnesota, USA., Warsame S; Medical Division, Dasman Diabetes Institute (DDI), Dasman, Kuwait., Bahbahani Y; Division of Nephrology, Mubarak Al-Kabeer Hospital, Ministry of Health, Jabriya, Kuwait.; Medical Division, Dasman Diabetes Institute (DDI), Dasman, Kuwait., Abu-Farha M; Department of Biochemistry and Molecular Biology, Dasman Diabetes Institute (DDI), Dasman, Kuwait., Abubaker J; Department of Biochemistry and Molecular Biology, Dasman Diabetes Institute (DDI), Dasman, Kuwait., Alqaddoumi M; Department of Pathology, Faculty of Medicine, Health Sciences Center (HSC), Kuwait University, Jabriya, Kuwait., Al-Mulla F; Department of Genetics and Bioinformatics, Dasman Diabetes Institute (DDI), Dasman, Kuwait., Harris PC; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.

المصدر: American journal of nephrology [Am J Nephrol] 2024; Vol. 55 (3), pp. 380-388. Date of Electronic Publication: 2024 Jan 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Karger Country of Publication: Switzerland NLM ID: 8109361 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1421-9670 (Electronic) Linking ISSN: 02508095 NLM ISO Abbreviation: Am J Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Polycystic Kidney, Autosomal Dominant*/genetics , Polycystic Kidney, Autosomal Dominant*/complications , Polycystic Kidney, Autosomal Dominant*/physiopathology , TRPP Cation Channels*/genetics , Glomerular Filtration Rate* , Mutation*, Humans ; Female ; Male ; Middle Aged ; Adult ; Retrospective Studies ; Disease Progression ; Genetic Association Studies ; Kuwait/epidemiology

المؤلفون: Claus LR; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Chen C; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA., Stallworth J; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Turner JL; Department of Genetics and Biochemistry, Clemson University, Clemson, South Carolina, USA., Slaats GG; Department of Nephrology and Hypertension, Regenerative Medicine Center Utrecht, University Medical Center Utrecht, Utrecht, the Netherlands., Hawks AL; Department of Genetics and Biochemistry, Clemson University, Clemson, South Carolina, USA., Mabillard H; Newcastle University, Translational and Clinical Research Institute, Newcastle upon Tyne, UK., Senum SR; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA., Srikanth S; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Flanagan-Steet H; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Louie RJ; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Silver J; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Ontario, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Lerner-Ellis J; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada; Lunenfeld-Tanenbaum Research Institute, Toronto, Ontario, Canada., Morel C; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Ontario, Canada; Department of Medicine, University of Toronto, Toronto, Ontario, Canada., Mighton C; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada; Lunenfeld-Tanenbaum Research Institute, Toronto, Ontario, Canada., Sleutels F; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., van Ham T; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Dorresteijn EM; Department of Pediatric Nephrology, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, the Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Dahan K; Institute Pathology and Genetic, Center of Human Genetics, Charleroi, Belgium., Demoulin N; Division of Nephrology, Cliniques Universitaires Saint-Luc, Brussels, Belgium; Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium., Goffin EJ; Division of Nephrology, Cliniques Universitaires Saint-Luc, Brussels, Belgium; Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium., Olinger E; Newcastle University, Translational and Clinical Research Institute, Newcastle upon Tyne, UK., Larsen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Hertz JM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Lilien MR; Department of Pediatric Nephrology, Wilhelmina Children's Hospital, Utrecht, the Netherlands., Obeidová L; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Seeman T; Department of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic; Department of Pediatrics, University Hospital Ostrava, Ostrava, Czech Republic; Faculty of Medicine, University of Ostrava, Ostrava, Czech Republic., Stone HK; Division of Nephrology and Hypertension, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Kerecuk L; Birmingham Women's and Children's National Health Services (NHS) Foundation Trust, National Institute for Health Care and Research (NIHR) Clinical Research Network (CRN) West Midlands, Birmingham, UK., Gurgu M; Fundeni Clinical Institute, Bucharest, Romania., Yousef Yengej FA; Department of Nephrology and Hypertension, University Medical Centre Utrecht, Utrecht, the Netherlands; Hubrecht Institute for Developmental Biology and Stem Cell Research-KNAW, Utrecht, the Netherlands., Ammerlaan CME; Department of Nephrology and Hypertension, University Medical Centre Utrecht, Utrecht, the Netherlands; Hubrecht Institute for Developmental Biology and Stem Cell Research-KNAW, Utrecht, the Netherlands., Rookmaaker MB; Department of Nephrology and Hypertension, University Medical Centre Utrecht, Utrecht, the Netherlands., Hanna C; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA; Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA., Rogers RC; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Duran K; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Peters E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Sayer JA; Newcastle University, Translational and Clinical Research Institute, Newcastle upon Tyne, UK; Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK; National Institute for Health and Care Research (NIHR) Biomedical Research Centre, Newcastle, UK., van Haaften G; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Harris PC; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA., Ling K; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA. Electronic address: Ling.Kun@mayo.edu., Mason JM; Department of Genetics and Biochemistry, Clemson University, Clemson, South Carolina, USA. Electronic address: jmason4@clemson.edu., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands. Electronic address: A.vanEerde@umcutrecht.nl., Steet R; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA. Electronic address: rsteet@ggc.org.

مؤلفون مشاركون: Genomics England Research Consortium

المصدر: Kidney international [Kidney Int] 2023 Nov; Vol. 104 (5), pp. 995-1007. Date of Electronic Publication: 2023 Aug 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

مواضيع طبية MeSH: Polycystic Kidney Diseases*/genetics , Polycystic Kidney, Autosomal Dominant*/pathology, Animals ; Humans ; Infant, Newborn ; Mice ; Carrier Proteins/metabolism ; Cilia/pathology ; Kidney/metabolism ; Mutation ; NIMA-Related Kinases/genetics ; NIMA-Related Kinases/metabolism ; Protein Serine-Threonine Kinases/genetics ; Protein Serine-Threonine Kinases/metabolism ; Serine/genetics ; Serine/metabolism ; TRPP Cation Channels/genetics ; TRPP Cation Channels/metabolism

المؤلفون: Wigerinck S; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.; Faculty of Medicine, Catholic University of Leuven, Leuven, Belgium., Gregory AV; Division of Radiology, Mayo Clinic, Rochester, MN, USA., Smith BH; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA., Iliuta IA; Division of Nephrology and Hypertension, Mayo Clinic, Jacksonville, FL, USA., Hanna C; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.; Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA., Chedid M; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA., Kaidbay HN; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA., Senum SR; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Shukoor S; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA., Harris PC; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Torres VE; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA., Kline TL; Division of Radiology, Mayo Clinic, Rochester, MN, USA., Chebib FT; Division of Nephrology and Hypertension, Mayo Clinic, Jacksonville, FL, USA.

المصدر: Clinical kidney journal [Clin Kidney J] 2023 May 23; Vol. 16 (10), pp. 1691-1700. Date of Electronic Publication: 2023 May 23 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101579321 Publication Model: eCollection Cited Medium: Print ISSN: 2048-8505 (Print) Linking ISSN: 20488505 NLM ISO Abbreviation: Clin Kidney J Subsets: PubMed not MEDLINE

المؤلفون: Zubidat D; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, MN, USA., Hanna C; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, MN, USA.; Division of Pediatric Nephrology and Hypertension, Department of Pediatric Adolescent Medicine, Mayo Clinic, Rochester, MN, USA., Randhawa AK; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, MN, USA., Smith BH; Division of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA., Chedid M; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, MN, USA., Kaidbay DN; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, MN, USA., Nardelli L; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, MN, USA., Mkhaimer YG; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, MN, USA., Neal RM; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, MN, USA., Madsen CD; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, MN, USA., Senum SR; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, MN, USA., Gregory AV; Department of Radiology, Mayo Clinic, Rochester, MN, USA., Kline TL; Department of Radiology, Mayo Clinic, Rochester, MN, USA., Zoghby ZM; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, MN, USA., Broski SM; Department of Radiology, Mayo Clinic, Rochester, MN, USA., Issa NS; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, MN, USA., Harris PC; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Torres VE; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, MN, USA., Sfeir JG; Division of Endocrinology, Department of Medicine, Mayo Clinic, Rochester, MN, USA.; Robert and Arlene Kogod Center on Aging, Mayo Clinic, Rochester, MN, USA., Chebib FT; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Jacksonville, FL, USA.

المصدر: Bone reports [Bone Rep] 2023 Jan 11; Vol. 18, pp. 101655. Date of Electronic Publication: 2023 Jan 11 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101646176 Publication Model: eCollection Cited Medium: Print ISSN: 2352-1872 (Print) Linking ISSN: 23521872 NLM ISO Abbreviation: Bone Rep Subsets: PubMed not MEDLINE

المؤلفون: Ali H; Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Health Sciences Center, Kuwait University, Jabriya, Kuwait.; Department of Genetics and Bioinformatics, Dasman Diabetes Institute, Dasman, Kuwait., Naim M; Division of Nephrology, Mubarak Al-Kabeer Hospital, Ministry of Health, Jabriya, Kuwait., Senum SR; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA., AlSahow A; Division of Nephrology, Al-Jahra Hospital, Ministry of Health, Al-Jahra, Kuwait., Bahbahani Y; Division of Nephrology, Mubarak Al-Kabeer Hospital, Ministry of Health, Jabriya, Kuwait.; Medical Division, Dasman Diabetes Institute, Dasman, Kuwait., Abu-Farha M; Department of Biochemistry and Molecular Biology, Dasman Diabetes Institute, Dasman, Kuwait., Abubaker J; Department of Biochemistry and Molecular Biology, Dasman Diabetes Institute, Dasman, Kuwait., Mohammad A; Department of Biochemistry and Molecular Biology, Dasman Diabetes Institute, Dasman, Kuwait., Al-Hunayan A; Department of Surgery, Faculty of Medicine, Health Sciences Center, Kuwait University, Jabriya, Kuwait., Asbeutah AM; Department of Radiological Sciences, Faculty of Allied Health Sciences, Health Sciences Center, Kuwait University, Jabriya, Kuwait., Zayed M; Department of Radiology, Mubarak Al-Kabeer Hospital, Ministry of Health, Jabriya, Kuwait., Devarajan S; National Dasman Diabetes Biobank, Dasman Diabetes Institute, Dasman, Kuwait., Hussain N; Division of Nephrology, Mubarak Al-Kabeer Hospital, Ministry of Health, Jabriya, Kuwait., John SE; Department of Genetics and Bioinformatics, Dasman Diabetes Institute, Dasman, Kuwait., Channanath A; Department of Genetics and Bioinformatics, Dasman Diabetes Institute, Dasman, Kuwait., Thanaraj TA; Department of Genetics and Bioinformatics, Dasman Diabetes Institute, Dasman, Kuwait., Al-Ali M; Next Generation Sequencing Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait., AlMousawi M; Department of Transplantation, Hamed Al Essa Organ Transplant Centre, Ministry of Health, Kuwait City, Kuwait., Al-Mulla F; Department of Genetics and Bioinformatics, Dasman Diabetes Institute, Dasman, Kuwait., Harris PC; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.

المصدر: Clinical kidney journal [Clin Kidney J] 2022 Oct 28; Vol. 16 (2), pp. 355-366. Date of Electronic Publication: 2022 Oct 28 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101579321 Publication Model: eCollection Cited Medium: Print ISSN: 2048-8505 (Print) Linking ISSN: 20488505 NLM ISO Abbreviation: Clin Kidney J Subsets: PubMed not MEDLINE

المؤلفون: Chedid M; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Kaidbay HD; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Lebanese American University, Gilbert and Rose-Mary Chagoury school of medicine, Byblos, Lebanon., Wigerinck S; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Mkhaimer Y; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Smith B; Division of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Zubidat D; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Sekhon I; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Prajwal R; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota, USA., Duriseti P; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Issa N; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA.; William J Von Liebig Center for Transplantation and Clinical Regeneration, Mayo Clinic, Rochester, Minnesota, USA., Zoghby ZM; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Hanna C; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Division of Pediatric Nephrology and Hypertension, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA., Senum SR; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Harris PC; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of biochemistry and molecular biology, Mayo Clinic, Rochester, Minnesota, USA., Hickson LJ; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Jacksonville, Florida, USA., Torres VE; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Nkomo VT; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota, USA., Chebib FT; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Jacksonville, Florida, USA.

المصدر: Kidney international reports [Kidney Int Rep] 2022 Jun 11; Vol. 7 (9), pp. 1991-2005. Date of Electronic Publication: 2022 Jun 11 (Print Publication: 2022).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101684752 Publication Model: eCollection Cited Medium: Internet ISSN: 2468-0249 (Electronic) Linking ISSN: 24680249 NLM ISO Abbreviation: Kidney Int Rep Subsets: PubMed not MEDLINE

المؤلفون: Senum SR; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA., Li YSM; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA; Department of Nephrology, Chongqing Municipal Hospital of Traditional Chinese Medicine, Chongqing 400021, China., Benson KA; School of Pharmacy and Biomolecular Science, Royal College of Surgeons in Ireland, Dublin 2, Ireland., Joli G; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA; University Vita Salute San Raffaele, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Olinger E; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE4 5PL, UK., Lavu S; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA., Madsen CD; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA., Gregory AV; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA., Neatu R; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE4 5PL, UK., Kline TL; Department of Radiology, Mayo Clinic, Rochester, MN 55905, USA., Audrézet MP; Univ Brest, Inserm, UMR 1078, GGB, CHU Brest, F-29200 Brest, France., Outeda P; Division of Nephrology, University of Maryland School of Medicine, Baltimore, MD 21201, USA., Nau CB; Department of Ophthalmology, Mayo Clinic, Rochester, MN 55905, USA., Meijer E; Department of Nephrology, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, the Netherlands., Ali H; Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Health Sciences Center, Kuwait University, Sulaibikhat 90805, Kuwait; Department of Genetics and Bioinformatics, Dasman Diabetes Institute (DDI), Dasman 15462, Kuwait., Steinman TI; Renal Division, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA., Mrug M; Division of Nephrology, University of Alabama, Birmingham, AL 35294, USA; The Department of Veterans Affairs Medical Center, Birmingham, AL 35294, USA., Phelan PJ; Renal Department, NHS Lothian - Royal Infirmary Edinburgh, Edinburgh, EH1 3EG, UK., Watnick TJ; Division of Nephrology, University of Maryland School of Medicine, Baltimore, MD 21201, USA., Peters DJM; Department of Human Genetics, Leiden University Medical Center, 2300 RC Leiden, the Netherlands., Ong ACM; Kidney Genetics Group, Academic Nephrology Unit, Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Sheffield, S10 2JF, UK; The Sheffield Kidney Institute, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, S10 2JF, UK., Conlon PJ; Department of Nephrology, Beaumont Hospital and Department of Medicine Royal College of Surgeons in Ireland, Dublin 9, Ireland., Perrone RD; Division of Nephrology, Tufts Medical Center and Tufts University School of Medicine, Boston, MA 02111, USA., Cornec-Le Gall E; Univ Brest, Inserm, UMR 1078, GGB, CHU Brest, F-29200 Brest, France., Hogan MC; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA., Torres VE; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA., Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE4 5PL, UK; Renal Services, Newcastle Upon Tyne Hospitals NHS Foundation Trust, and NIHR Newcastle Biomedical Research Centre, Newcastle University, Newcastle upon Tyne, NE4 5PL, UK., Harris PC; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA. Electronic address: harris.peter@mayo.edu.

مؤلفون مشاركون: Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies

المصدر: American journal of human genetics [Am J Hum Genet] 2022 Jan 06; Vol. 109 (1), pp. 136-156. Date of Electronic Publication: 2021 Dec 09.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Alleles* , Carrier Proteins* , Genetic Predisposition to Disease* , Mutation*, Polycystic Kidney, Autosomal Dominant/*genetics, Adult ; Aged ; Amino Acid Substitution ; Biological Specimen Banks ; Cilia/pathology ; DNA Copy Number Variations ; Female ; Genetic Association Studies ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Kidney Function Tests ; Male ; Middle Aged ; Pedigree ; Phenotype ; Polycystic Kidney, Autosomal Dominant/diagnosis ; Sequence Analysis, DNA ; United Kingdom ; Exome Sequencing

المؤلفون: Chedid M; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Hanna C; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA, hanna.christian@mayo.edu.; Division of Pediatric Nephrology and Hypertension, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA, hanna.christian@mayo.edu., Zaatari G; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Mkhaimer Y; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Reddy P; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota, USA., Rangel L; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Zubidat D; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Kaidbay DN; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Irazabal MV; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Connolly HM; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota, USA., Senum SR; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Madsen CD; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Hogan MC; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Zoghby Z; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Harris PC; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA., Torres VE; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA., Johnson JN; Division of Pediatric Cardiology, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota, USA., Chebib FT; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA.

المصدر: American journal of nephrology [Am J Nephrol] 2022; Vol. 53 (4), pp. 316-324. Date of Electronic Publication: 2022 Mar 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Karger Country of Publication: Switzerland NLM ID: 8109361 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1421-9670 (Electronic) Linking ISSN: 02508095 NLM ISO Abbreviation: Am J Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Heart Defects, Congenital*/complications , Heart Defects, Congenital*/epidemiology , Heart Defects, Congenital*/genetics , Polycystic Kidney, Autosomal Dominant*/complications , Polycystic Kidney, Autosomal Dominant*/diagnosis , Polycystic Kidney, Autosomal Dominant*/genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Genetic Testing ; Humans ; Male ; Mutation ; TRPP Cation Channels/genetics ; Young Adult

المؤلفون: Jones BE; Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota., Mkhaimer YG; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota., Rangel LJ; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota., Chedid M; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota., Schulte PJ; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota., Mohamed AK; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota., Neal RM; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota., Zubidat D; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota., Randhawa AK; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota., Hanna C; Division of Pediatric Nephrology, Department of Pediatrics, Mayo Clinic, Rochester, Minnesota., Gregory AV; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota., Kline TL; Department of Radiology, Mayo Clinic, Rochester, Minnesota., Zoghby ZM; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota., Senum SR; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota., Harris PC; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota., Torres VE; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota., Chebib FT; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota.

المصدر: Kidney360 [Kidney360] 2021 Dec 07; Vol. 3 (3), pp. 465-476. Date of Electronic Publication: 2021 Dec 07 (Print Publication: 2022).

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wolters Kluwer Health, Inc. on behalf of the American Society of Nephrology Country of Publication: United States NLM ID: 101766381 Publication Model: eCollection Cited Medium: Internet ISSN: 2641-7650 (Electronic) Linking ISSN: 26417650 NLM ISO Abbreviation: Kidney360 Subsets: MEDLINE

مواضيع طبية MeSH: Kidney Failure, Chronic*/complications , Polycystic Kidney, Autosomal Dominant*/complications , Pyuria*/complications, Adult ; Biomarkers ; Disease Progression ; Female ; Glomerular Filtration Rate ; Humans ; Inflammation/complications ; Prognosis ; Retrospective Studies