المؤلفون: Senum, S.R., Li, Y.M., Benson, K.A., Joli, G., Olinger, E., Lavu, S., Madsen, C.D., Gregory, A.V., Neatu, R., Kline, T.L., Audrezet, M.P., Outeda, P., Nau, C.B., Meijer, E., Ali, H., Steinman, T.I., Mrug, M., Phelan, P.J., Watnick, T.J., Peters, D.J.M., Ong, A.C.M., Conlon, P.J., Perrone, R.D., Gall, E.C.L., Hogan, M.C., Torres, V.E., Saver, J.A., Harris, P.C., Genomics England Res Consortium, HALT PKD, CRISP, DIPAK, ADPKD Modifier, TAME PKD studies

المساهمون: Groningen Kidney Center (GKC), Mayo Clinic [Rochester], Royal College of Surgeons in Ireland (RCSI), IRCCS San Raffaele Scientific Institute [Milan, Italie], Newcastle University [Newcastle], Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), University of Maryland School of Medicine, University of Maryland System, University of Groningen [Groningen], Kuwait University, Beth Israel Deaconess Medical Center [Boston] (BIDMC), Harvard Medical School [Boston] (HMS), University of Alabama at Birmingham [ Birmingham] (UAB), Royal Infirmary of Edinburgh, Leiden University Medical Center (LUMC), The Medical School - The University of Sheffield [U.K.], Tufts University School of Medicine [Boston], PODEUR, Sophie

المصدر: Am J Hum Genet
American Journal of Human Genetics, 109(1), 136-156. CELL PRESS
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2022, 109 (1), pp.136-156. ⟨10.1016/j.ajhg.2021.11.016⟩

مصطلحات موضوعية: Adult, Male, DNA Copy Number Variations, [SDV]Life Sciences [q-bio], PKD1, urologic and male genital diseases, DIAGNOSIS, Kidney Function Tests, DISEASE, Article, short rib thoracic dysplasia, monoallelic cystic disease, IFT140, Exome Sequencing, Genetics, Humans, Genetic Predisposition to Disease, Cilia, Genetic Testing, Genetics (clinical), CYST FORMATION, Alleles, Genetic Association Studies, ADPKD, Aged, Biological Specimen Banks, intraflagellar transport, polycystic kidney disease, COMPLEX, urogenital system, MUTATIONS, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Middle Aged, Polycystic Kidney, Autosomal Dominant, GENE, female genital diseases and pregnancy complications, RENAL CYSTS, United Kingdom, Pedigree, [SDV] Life Sciences [q-bio], ciliopathy, Phenotype, Amino Acid Substitution, Mutation, Female, DEFINES, Carrier Proteins

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::183928f9db35fd45f0abc517af272c58
https://pubmed.ncbi.nlm.nih.gov/34890546

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison H, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong AC, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Dec 21. Date of Electronic Publication: 2023 Dec 21.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Geraghty RM; Renal Services, The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Freeman Road, Newcastle Upon Tyne, NE7 7DN UK.; Faculty of Medical Sciences, Translational and Clinical Institute, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ UK., Orr S; Faculty of Medical Sciences, Translational and Clinical Institute, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ UK., Olinger E; Faculty of Medical Sciences, Translational and Clinical Institute, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ UK., Neatu R; Faculty of Medical Sciences, Translational and Clinical Institute, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ UK., Barroso-Gil M; Faculty of Medical Sciences, Translational and Clinical Institute, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ UK., Mabillard H; Faculty of Medical Sciences, Translational and Clinical Institute, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ UK., Consortium GER; Renal Services, The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Freeman Road, Newcastle Upon Tyne, NE7 7DN UK.; Faculty of Medical Sciences, Translational and Clinical Institute, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ UK.; Faculty of Medical Sciences, Biosciences Institute, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ UK.; National Institute for Health Research Newcastle Biomedical Research Centre, Newcastle Upon Tyne, NE4 5PL UK., Wilson I; Faculty of Medical Sciences, Biosciences Institute, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ UK., Sayer JA; Renal Services, The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Freeman Road, Newcastle Upon Tyne, NE7 7DN UK.; Faculty of Medical Sciences, Translational and Clinical Institute, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ UK.; National Institute for Health Research Newcastle Biomedical Research Centre, Newcastle Upon Tyne, NE4 5PL UK.

المصدر: Journal of rare diseases (Berlin, Germany) [J Rare Dis (Berlin)] 2023; Vol. 2 (1), pp. 9. Date of Electronic Publication: 2023 Jun 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Germany NLM ID: 9918522486706676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2731-085X (Electronic) Linking ISSN: 2731085X NLM ISO Abbreviation: J Rare Dis (Berlin) Subsets: PubMed not MEDLINE