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Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F. Braun DA, et al. Among authors: ariceta g. J Clin Invest. 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4. J Clin Invest. 2018. PMID: 30179222 Free PMC article.
Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Claverie-Martín F, García-Nieto V, Loris C, Ariceta G, Nadal I, Espinosa L, Fernández-Maseda Á, Antón-Gamero M, Avila A, Madrid Á, González-Acosta H, Córdoba-Lanus E, Santos F, Gil-Calvo M, Espino M, García-Martinez E, Sanchez A, Muley R; RenalTube Group. Claverie-Martín F, et al. Among authors: ariceta g. PLoS One. 2013;8(1):e53151. doi: 10.1371/journal.pone.0053151. Epub 2013 Jan 3. PLoS One. 2013. PMID: 23301036 Free PMC article.
Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm.
García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Madrid A, Nadal I, Navarro M, Lucas E, Fijo J, Espino M, Espitaletta Z, Castaño L, Ariceta G; RenalTube Group. García Castaño A, et al. Among authors: ariceta g. PLoS One. 2013 Sep 18;8(9):e74673. doi: 10.1371/journal.pone.0074673. eCollection 2013. PLoS One. 2013. PMID: 24058621 Free PMC article.
The ANTENATAL multicentre study to predict postnatal renal outcome in fetuses with posterior urethral valves: objectives and design.
Buffin-Meyer B, Klein J, van der Zanden LFM, Levtchenko E, Moulos P, Lounis N, Conte-Auriol F, Hindryckx A, Wühl E, Persico N, Oepkes D, Schreuder MF, Tkaczyk M, Ariceta G, Fossum M, Parvex P, Feitz W, Olsen H, Montini G, Decramer S, Schanstra JP; ANTENATAL Consortium. Buffin-Meyer B, et al. Among authors: ariceta g. Clin Kidney J. 2019 Sep 26;13(3):371-379. doi: 10.1093/ckj/sfz107. eCollection 2020 Jun. Clin Kidney J. 2019. PMID: 32699617 Free PMC article.
Impact of COVID-19 on Families of Pediatric Solid Organ Transplant Recipients.
Forner-Puntonet M, Castell-Panisello E, Quintero J, Ariceta G, Gran F, Iglesias-Serrano I, Gisbert-Gustemps L, Daigre C, Ibañez-Jimenez P, Delgado M, Español-Martín G, Parramon G, Pont T, Ramos-Quiroga JA. Forner-Puntonet M, et al. Among authors: ariceta g. J Pediatr Psychol. 2021 Aug 19;46(8):927-938. doi: 10.1093/jpepsy/jsab058. J Pediatr Psychol. 2021. PMID: 34313783 Free PMC article.
Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry.
Alonso R, Díaz-Díaz JL, Arrieta F, Fuentes-Jiménez F, de Andrés R, Saenz P, Ariceta G, Vidal-Pardo JI, Almagro F, Argueso R, Prieto-Matos P, Miramontes JP, Pintó X, Rodriguez-Urrego J, Perez de Isla L, Mata P. Alonso R, et al. Among authors: ariceta g. J Clin Lipidol. 2016 Jul-Aug;10(4):953-961. doi: 10.1016/j.jacl.2016.04.006. Epub 2016 Apr 21. J Clin Lipidol. 2016. PMID: 27578128
Health-related quality of life of X-linked hypophosphatemia in Spain.
Yanes MIL, Diaz-Curiel M, Peris P, Vicente C, Marin S, Ramon-Krauel M, Hernandez J, Broseta JJ, Espinosa L, Mendizabal S, Perez-Sukia L, Martínez V, Palazón C, Piñero JA, Calleja MA, Espin J, Arborio-Pinel R, Ariceta G. Yanes MIL, et al. Among authors: ariceta g. Orphanet J Rare Dis. 2022 Jul 29;17(1):298. doi: 10.1186/s13023-022-02452-0. Orphanet J Rare Dis. 2022. PMID: 35906684 Free PMC article.
207 results