Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

54 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R. Jaureguiberry G, et al. Among authors: stanescu hc. Nephron Physiol. 2012;122(1-2):1-6. doi: 10.1159/000349989. Epub 2013 Feb 23. Nephron Physiol. 2012. PMID: 23434854 Free PMC article.
Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.
Rowczenio DM, Iancu DS, Trojer H, Gilbertson JA, Gillmore JD, Wechalekar AD, Tekman M, Stanescu HC, Kleta R, Lane T, Hawkins PN, Lachmann HJ. Rowczenio DM, et al. Among authors: stanescu hc. Rheumatology (Oxford). 2017 Feb;56(2):209-213. doi: 10.1093/rheumatology/kew058. Epub 2016 May 5. Rheumatology (Oxford). 2017. PMID: 27150194
Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies.
Sekula P, Li Y, Stanescu HC, Wuttke M, Ekici AB, Bockenhauer D, Walz G, Powis SH, Kielstein JT, Brenchley P; GCKD Investigators, Eckardt KU, Kronenberg F, Kleta R, Köttgen A. Sekula P, et al. Among authors: stanescu hc. Nephrol Dial Transplant. 2017 Feb 1;32(2):325-332. doi: 10.1093/ndt/gfw001. Epub 2016 Feb 4. Nephrol Dial Transplant. 2017. PMID: 27333618 Free PMC article.
Genetics of membranous nephropathy.
Gupta S, Köttgen A, Hoxha E, Brenchley P, Bockenhauer D, Stanescu HC, Kleta R. Gupta S, et al. Nephrol Dial Transplant. 2018 Sep 1;33(9):1493-1502. doi: 10.1093/ndt/gfx296. Nephrol Dial Transplant. 2018. PMID: 29126273 Free PMC article. Review.
TRAP1 chaperone protein mutations and autoinflammation.
Standing AS, Hong Y, Paisan-Ruiz C, Omoyinmi E, Medlar A, Stanescu H, Kleta R, Rowcenzio D, Hawkins P, Lachmann H, McDermott MF, Eleftheriou D, Klein N, Brogan PA. Standing AS, et al. Among authors: stanescu h. Life Sci Alliance. 2019 Dec 27;3(2):e201900376. doi: 10.26508/lsa.201900376. Print 2020 Feb. Life Sci Alliance. 2019. PMID: 31882397 Free PMC article.
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis.
Xie J, Liu L, Mladkova N, Li Y, Ren H, Wang W, Cui Z, Lin L, Hu X, Yu X, Xu J, Liu G, Caliskan Y, Sidore C, Balderes O, Rosen RJ, Bodria M, Zanoni F, Zhang JY, Krithivasan P, Mehl K, Marasa M, Khan A, Ozay F, Canetta PA, Bomback AS, Appel GB, Sanna-Cherchi S, Sampson MG, Mariani LH, Perkowska-Ptasinska A, Durlik M, Mucha K, Moszczuk B, Foroncewicz B, Pączek L, Habura I, Ars E, Ballarin J, Mani LY, Vogt B, Ozturk S, Yildiz A, Seyahi N, Arikan H, Koc M, Basturk T, Karahan G, Akgul SU, Sever MS, Zhang D, Santoro D, Bonomini M, Londrino F, Gesualdo L, Reiterova J, Tesar V, Izzi C, Savoldi S, Spotti D, Marcantoni C, Messa P, Galliani M, Roccatello D, Granata S, Zaza G, Lugani F, Ghiggeri G, Pisani I, Allegri L, Sprangers B, Park JH, Cho B, Kim YS, Kim DK, Suzuki H, Amoroso A, Cattran DC, Fervenza FC, Pani A, Hamilton P, Harris S, Gupta S, Cheshire C, Dufek S, Issler N, Pepper RJ, Connolly J, Powis S, Bockenhauer D, Stanescu HC, Ashman N, Loos RJF, Kenny EE, Wuttke M, Eckardt KU, Köttgen A, Hofstra JM, Coenen MJH, Kiemeney LA, Akilesh S, Kretzler M, Beck LH, Stengel B, Debiec H, Ronco P, Wetzels JFM, Zoledziewska M, Cucca F, Ionita-Laza I, Lee H, Hoxha E, Stahl RAK, Brenchley P, Scolari F, Zhao MH, Gharavi AG, Kleta R, Chen N, Kiryluk K. Xie J, et al. Among authors: stanescu hc. Nat Commun. 2020 Mar 30;11(1):1600. doi: 10.1038/s41467-020-15383-w. Nat Commun. 2020. PMID: 32231244 Free PMC article.
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Balogh E, Chandler JC, Varga M, Tahoun M, Menyhárd DK, Schay G, Goncalves T, Hamar R, Légrádi R, Szekeres Á, Gribouval O, Kleta R, Stanescu H, Bockenhauer D, Kerti A, Williams H, Kinsler V, Di WL, Curtis D, Kolatsi-Joannou M, Hammid H, Szőcs A, Perczel K, Maka E, Toldi G, Sava F, Arrondel C, Kardos M, Fintha A, Hossain A, D'Arco F, Kaliakatsos M, Koeglmeier J, Mifsud W, Moosajee M, Faro A, Jávorszky E, Rudas G, Saied MH, Marzouk S, Kelen K, Götze J, Reusz G, Tulassay T, Dragon F, Mollet G, Motameny S, Thiele H, Dorval G, Nürnberg P, Perczel A, Szabó AJ, Long DA, Tomita K, Antignac C, Waters AM, Tory K. Balogh E, et al. Among authors: stanescu h. Proc Natl Acad Sci U S A. 2020 Jun 30;117(26):15137-15147. doi: 10.1073/pnas.2002328117. Epub 2020 Jun 17. Proc Natl Acad Sci U S A. 2020. PMID: 32554502 Free PMC article.
Identification of a novel genetic locus associated with immune mediated thrombotic thrombocytopenic purpura.
Stubbs MJ, Coppo P, Cheshire C, Veyradier A, Dufek S, Levine AP, Thomas M, Patel V, Connolly JO, Hubank M, Benhamou Y, Galicier L, Poullin P, Kleta R, Gale DP, Stanescu H, Scully MA. Stubbs MJ, et al. Among authors: stanescu h. Haematologica. 2021 Feb 18. doi: 10.3324/haematol.2020.274639. Online ahead of print. Haematologica. 2021. PMID: 33596643 Free article.
54 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page