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

Year Number of Results
2002 1
2003 3
2004 1
2005 9
2006 6
2007 4
2008 5
2009 3
2010 6
2011 4
2012 2
2014 1
2015 2
2016 4
2017 2
2018 2
2019 1
2020 1
2021 3
2022 1
2023 1
2024 0

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54 results

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Page 1
Bone health in Down syndrome.
García-Hoyos M, Riancho JA, Valero C. García-Hoyos M, et al. Med Clin (Barc). 2017 Jul 21;149(2):78-82. doi: 10.1016/j.medcli.2017.04.020. Epub 2017 May 30. Med Clin (Barc). 2017. PMID: 28571965 Review. English, Spanish.
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.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, Lopez-Gonzalez A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny A, Lorda-Sanchez I, Almoguera B. Martinez-Cayuelas E, et al. Among authors: garcia hoyos m. J Med Genet. 2023 Jul;60(7):644-654. doi: 10.1136/jmg-2022-108632. Epub 2022 Nov 29. J Med Genet. 2023. PMID: 36446582
Gene symbol: RP2.
Villaverde-Montero C, García-Hoyos M, Giménez-Pardo A, Trujillo-Tiebas MJ, Baiget M, Ayuso C. Villaverde-Montero C, et al. Among authors: garcia hoyos m. Hum Genet. 2007 Apr;121(2):289. Hum Genet. 2007. PMID: 17598203 No abstract available.
Abnormal bone turnover in individuals with low serum alkaline phosphatase.
López-Delgado L, Riancho-Zarrabeitia L, García-Unzueta MT, Tenorio JA, García-Hoyos M, Lapunzina P, Valero C, Riancho JA. López-Delgado L, et al. Among authors: garcia hoyos m. Osteoporos Int. 2018 Sep;29(9):2147-2150. doi: 10.1007/s00198-018-4571-0. Epub 2018 Jun 12. Osteoporos Int. 2018. PMID: 29947871
Steroids for familial acute necrotizing encephalopathy: A future investment?
Soriano-Ramos M, Navarro-Abia V, Enamorado NN, Camacho-Salas A, De Aragón AM, García-Hoyos M, de Las Heras RS. Soriano-Ramos M, et al. Among authors: garcia hoyos m. Clin Neurol Neurosurg. 2018 Nov;174:134-136. doi: 10.1016/j.clineuro.2018.09.014. Epub 2018 Sep 11. Clin Neurol Neurosurg. 2018. PMID: 30241006 No abstract available.
Novel UGT1A1 Gene Mutations in a Boy with Crigler-Najjar Syndrome Type II.
Pérez-Solís D, Montes-Zapico B, Rodríguez-Dehli AC, García-Hoyos M, Arroyo-Hernández M. Pérez-Solís D, et al. Among authors: garcia hoyos m. J Pediatr Genet. 2020 Jul 29;10(4):323-325. doi: 10.1055/s-0040-1714361. eCollection 2021 Dec. J Pediatr Genet. 2020. PMID: 34849280 Free PMC article.
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.
Natera-de Benito D, Bestué M, Vilchez JJ, Evangelista T, Töpf A, García-Ribes A, Trujillo-Tiebas MJ, García-Hoyos M, Ortez C, Camacho A, Jiménez E, Dusl M, Abicht A, Lochmüller H, Colomer J, Nascimento A. Natera-de Benito D, et al. Among authors: garcia hoyos m. Neuromuscul Disord. 2016 Feb;26(2):153-9. doi: 10.1016/j.nmd.2015.10.013. Epub 2015 Nov 23. Neuromuscul Disord. 2016. PMID: 26782015
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.
Sanchez-Alcudia R, Garcia-Hoyos M, Lopez-Martinez MA, Sanchez-Bolivar N, Zurita O, Gimenez A, Villaverde C, Rodrigues-Jacy da Silva L, Corton M, Perez-Carro R, Torriano S, Kalatzis V, Rivolta C, Avila-Fernandez A, Lorda I, Trujillo-Tiebas MJ, Garcia-Sandoval B, Lopez-Molina MI, Blanco-Kelly F, Riveiro-Alvarez R, Ayuso C. Sanchez-Alcudia R, et al. Among authors: garcia hoyos m. PLoS One. 2016 Apr 12;11(4):e0151943. doi: 10.1371/journal.pone.0151943. eCollection 2016. PLoS One. 2016. PMID: 27070432 Free PMC article.
Novel adeno-associated virus serotypes efficiently transduce murine photoreceptors.
Allocca M, Mussolino C, Garcia-Hoyos M, Sanges D, Iodice C, Petrillo M, Vandenberghe LH, Wilson JM, Marigo V, Surace EM, Auricchio A. Allocca M, et al. Among authors: garcia hoyos m. J Virol. 2007 Oct;81(20):11372-80. doi: 10.1128/JVI.01327-07. Epub 2007 Aug 15. J Virol. 2007. PMID: 17699581 Free PMC article.
54 results