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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 1

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55 results

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Page 1
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
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.
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.
Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis.
Abulí A, Antolín E, Borrell A, Garcia-Hoyos M, García Santiago F, Gómez Manjón I, Maíz N, González González C, Rodríguez-Revenga L, Valenzuena Palafoll I, Suela J. Abulí A, et al. Among authors: garcia hoyos m. J Med Genet. 2024 Jul 19;61(8):727-733. doi: 10.1136/jmg-2024-109878. J Med Genet. 2024. PMID: 38834294 Free article.
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
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
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.
55 results