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Page 1
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
Domingo-Gallego A, Pybus M, Bullich G, Furlano M, Ejarque-Vila L, Lorente-Grandoso L, Ruiz P, Fraga G, López González M, Piñero-Fernández JA, Rodríguez-Peña L, Llano-Rivas I, Sáez R, Bujons-Tur A, Ariceta G, Guirado L, Torra R, Ars E. Domingo-Gallego A, et al. Among authors: rodriguez pena l. Nephrol Dial Transplant. 2022 Mar 25;37(4):687-696. doi: 10.1093/ndt/gfab019. Nephrol Dial Transplant. 2022. PMID: 33532864
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.
Bullich G, Domingo-Gallego A, Vargas I, Ruiz P, Lorente-Grandoso L, Furlano M, Fraga G, Madrid Á, Ariceta G, Borregán M, Piñero-Fernández JA, Rodríguez-Peña L, Ballesta-Martínez MJ, Llano-Rivas I, Meñica MA, Ballarín J, Torrents D, Torra R, Ars E. Bullich G, et al. Kidney Int. 2018 Aug;94(2):363-371. doi: 10.1016/j.kint.2018.02.027. Epub 2018 May 22. Kidney Int. 2018. PMID: 29801666 Free article.
Treatment and long-term outcome in primary nephrogenic diabetes insipidus.
Lopez-Garcia SC, Downie ML, Kim JS, Boyer O, Walsh SB, Nijenhuis T, Papizh S, Yadav P, Reynolds BC, Decramer S, Besouw M, Perelló Carrascosa M, La Scola C, Trepiccione F, Ariceta G, Hummel A, Dossier C, Sayer JA, Konrad M, Keijzer-Veen MG, Awan A, Basu B, Chauveau D, Madariaga L, Koster-Kamphuis L, Furlano M, Zacchia M, Marzuillo P, Tse Y, Dursun I, Pinarbasi AS, Tramma D, Hoorn EJ, Gokce I, Nicholls K, Eid LA, Sartz L, Riordan M, Hooman N, Printza N, Bonny O, Arango Sancho P, Schild R, Sinha R, Guarino S, Martinez Jimenez V, Rodríguez Peña L, Belge H, Devuyst O, Wlodkowski T, Emma F, Levtchenko E, Knoers NVAM, Bichet DG, Schaefer F, Kleta R; European NDI Consortium; Bockenhauer D. Lopez-Garcia SC, et al. Among authors: rodriguez pena l. Nephrol Dial Transplant. 2020 Dec 26:gfaa243. doi: 10.1093/ndt/gfaa243. Online ahead of print. Nephrol Dial Transplant. 2020. PMID: 33367818
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 May 10;11(1):10340. doi: 10.1038/s41598-021-89275-4. Sci Rep. 2021. PMID: 33972629 Free PMC article. No abstract available.
Oral-facio-digital syndrome type I: In the differential diagnosis of autosomic dominant polycystic kidney disease, about three cases.
Martínez Jiménez V, Ortuño López PP, Roca Meroño S, Rodríguez Peña L, Galán Carrillo I, Galbis Martínez L, Ramos Carrasco F, Piñero Hernández JA, González Rodríguez JD, Guillén Navarro E; Unidad Multidisciplinar de Enfermedades Renales Hereditarias de la Región de Murcia (UMERH-RM). Martínez Jiménez V, et al. Among authors: rodriguez pena l. Nefrologia (Engl Ed). 2021 Aug 7:S0211-6995(21)00141-7. doi: 10.1016/j.nefro.2021.03.012. Online ahead of print. Nefrologia (Engl Ed). 2021. PMID: 34376309 Free article. English, Spanish. No abstract available.
Oral-facio-digital syndrome type I: In the differential diagnosis of autosomic dominant polycystic kidney disease, about three cases.
Martínez Jiménez V, Ortuño López PP, Roca Meroño S, Rodríguez Peña L, Galán Carrillo I, Galbis Martínez L, Ramos Carrasco F, Piñero Hernández JA, González Rodríguez JD, Guillén Navarro E; Unidad Multidisciplinar de Enfermedades Renales Hereditarias de la Región de Murcia (UMERH-RM). Martínez Jiménez V, et al. Among authors: rodriguez pena l. Nefrologia (Engl Ed). 2023 Mar-Apr;43(2):261-263. doi: 10.1016/j.nefroe.2023.06.002. Epub 2023 Jun 14. Nefrologia (Engl Ed). 2023. PMID: 37328341 Free article. No abstract available.
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Fernández-Caballero L, Martín-Merida I, Blanco-Kelly F, Avila-Fernandez A, Carreño E, Fernandez-San Jose P, Irigoyen C, Jimenez-Rolando B, Lopez-Grondona F, Mahillo I, Martin-Gutierrez MP, Minguez P, Perea-Romero I, Del Pozo-Valero M, Riveiro-Alvarez R, Rodilla C, Rodriguez-Peña L, Sánchez-Barbero AI, Swafiri ST, Trujillo-Tiebas MJ, Zurita O, García-Sandoval B, Corton M, Ayuso C. Fernández-Caballero L, et al. Among authors: rodriguez pena l. Int J Mol Sci. 2024 Mar 2;25(5):2913. doi: 10.3390/ijms25052913. Int J Mol Sci. 2024. PMID: 38474159 Free PMC article.
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.
Ballesta-Martínez MJ, Pérez-Fernández V, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Rodríguez-Peña LI, Barreda-Sánchez M, Armengol-Dulcet L, Guillén-Navarro E. Ballesta-Martínez MJ, et al. Among authors: rodriguez pena li. Orphanet J Rare Dis. 2023 Jul 21;18(1):201. doi: 10.1186/s13023-023-02809-z. Orphanet J Rare Dis. 2023. PMID: 37480025 Free PMC article. Review.
The importance of the number of antihypertensives in the progression of autosomal dominant polycystic kidney disease.
Martínez Jiménez V, Hernández González AN, López Jiménez I, Rodríguez Peña L, Galbis Martínez L, Santa-Olalla González M, Ruiz Merino G, Guillén Navarro E. Martínez Jiménez V, et al. Among authors: rodriguez pena l. Nefrologia (Engl Ed). 2021 May-Jun;41(3):362-364. doi: 10.1016/j.nefroe.2021.07.002. Epub 2021 Jul 27. Nefrologia (Engl Ed). 2021. PMID: 36166255 Free article. No abstract available.
14 results