Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2008 3
2018 2
2020 1
2021 6
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

14 results

Results by year

Filters applied: . Clear all
Page 1
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.
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: galbis martinez l. Nefrologia (Engl Ed). 2021 May-Jun;41(3):362-364. doi: 10.1016/j.nefro.2020.06.003. Epub 2020 Sep 17. Nefrologia (Engl Ed). 2021. PMID: 32950282 Free article. English, Spanish. No abstract available.
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: galbis martinez 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.
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: galbis martinez 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: galbis martinez 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.
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Galbis-Martínez L, Blanco-Kelly F, García-García G, Ávila-Fernández A, Jaijo T, Fuster-García C, Perea-Romero I, Zurita-Muñoz O, Jimenez-Rolando B, Carreño E, García-Sandoval B, Millán JM, Ayuso C. Galbis-Martínez L, et al. Acta Ophthalmol. 2021 Dec;99(8):922-930. doi: 10.1111/aos.14795. Epub 2021 Feb 11. Acta Ophthalmol. 2021. PMID: 33576163 Free PMC article.
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
Pérez-Carro R, Blanco-Kelly F, Galbis-Martínez L, García-García G, Aller E, García-Sandoval B, Mínguez P, Corton M, Mahíllo-Fernández I, Martín-Mérida I, Avila-Fernández A, Millán JM, Ayuso C. Pérez-Carro R, et al. Among authors: galbis martinez l. PLoS One. 2018 Jun 18;13(6):e0199048. doi: 10.1371/journal.pone.0199048. eCollection 2018. PLoS One. 2018. PMID: 29912909 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.
Multidisciplinary management improves the genetic diagnosis of hereditary kidney diseases in the next generation sequencing (NGS) era.
Galán Carrillo I, Galbis Martínez L, Martínez V, Roca Meroño S, Ramos F, González Rodríguez JD, Piñero Fernández J, Guillén Navarro E. Galán Carrillo I, et al. Among authors: galbis martinez l. Nefrologia (Engl Ed). 2024 Jan-Feb;44(1):69-76. doi: 10.1016/j.nefroe.2024.02.002. Epub 2024 Feb 27. Nefrologia (Engl Ed). 2024. PMID: 38418364 Free article.
14 results