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

Year Number of Results
2007 1
2009 1
2010 5
2011 8
2012 4
2013 5
2014 8
2015 5
2016 4
2017 4
2018 7
2019 4
2020 4
2021 13
2022 7
2023 6
2024 3

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79 results

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Page 1
Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B. Sanchez-Jimeno C, et al. Among authors: blanco kelly f. Genes (Basel). 2021 Aug 30;12(9):1360. doi: 10.3390/genes12091360. Genes (Basel). 2021. PMID: 34573342 Free PMC article. Review.
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.
Martin-Merida I, Avila-Fernandez A, Del Pozo-Valero M, Blanco-Kelly F, Zurita O, Perez-Carro R, Aguilera-Garcia D, Riveiro-Alvarez R, Arteche A, Trujillo-Tiebas MJ, Tahsin-Swafiri S, Rodriguez-Pinilla E, Lorda-Sanchez I, Garcia-Sandoval B, Corton M, Ayuso C. Martin-Merida I, et al. Among authors: blanco kelly f. Ophthalmology. 2019 Aug;126(8):1181-1188. doi: 10.1016/j.ophtha.2019.03.018. Epub 2019 Mar 20. Ophthalmology. 2019. PMID: 30902645
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Del Pozo-Valero M, Riveiro-Alvarez R, Martin-Merida I, Blanco-Kelly F, Swafiri S, Lorda-Sanchez I, Trujillo-Tiebas MJ, Carreño E, Jimenez-Rolando B, Garcia-Sandoval B, Corton M, Avila-Fernandez A, Ayuso C. Del Pozo-Valero M, et al. Among authors: blanco kelly f. Invest Ophthalmol Vis Sci. 2022 Feb 1;63(2):11. doi: 10.1167/iovs.63.2.11. Invest Ophthalmol Vis Sci. 2022. PMID: 35119454 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: blanco kelly f. 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
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C. Riveiro-Alvarez R, et al. Among authors: blanco kelly f. Ophthalmology. 2013 Nov;120(11):2332-7. doi: 10.1016/j.ophtha.2013.04.002. Epub 2013 Jun 4. Ophthalmology. 2013. PMID: 23755871 Free PMC article.
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Rodilla C, Martín-Merida I, Blanco-Kelly F, Trujillo-Tiebas MJ, Avila-Fernandez A, Riveiro-Alvarez R, Del Pozo-Valero M, Perea-Romero I, Swafiri ST, Zurita O, Villaverde C, López MÁ, Romero R, Iancu IF, Núñez-Moreno G, Jiménez-Rolando B, Martin-Gutierrez MP, Carreño E, Minguez P, García-Sandoval B, Ayuso C, Corton M. Rodilla C, et al. Among authors: blanco kelly f. Am J Ophthalmol. 2023 Oct;254:87-103. doi: 10.1016/j.ajo.2023.05.015. Epub 2023 Jun 15. Am J Ophthalmol. 2023. PMID: 37327959 Free article.
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. Among authors: blanco kelly f. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Kumaran N, Georgiou M, Bainbridge JWB, Bertelsen M, Larsen M, Blanco-Kelly F, Ayuso C, Tran HV, Munier FL, Kalitzeos A, Michaelides M. Kumaran N, et al. Among authors: blanco kelly f. Invest Ophthalmol Vis Sci. 2020 Apr 9;61(4):47. doi: 10.1167/iovs.61.4.47. Invest Ophthalmol Vis Sci. 2020. PMID: 32347917 Free PMC article.
Apolipoprotein E-ε2 and Resistance to Atherosclerosis in Midlife: The PESA Observational Study.
Toribio-Fernández R, Tristão-Pereira C, Carlos Silla-Castro J, Callejas S, Oliva B, Fernandez-Nueda I, Garcia-Lunar I, Perez-Herreras C, María Ordovás J, Martin P, Blanco-Kelly F, Ayuso C, Lara-Pezzi E, Fernandez-Ortiz A, Garcia-Alvarez A, Dopazo A, Sanchez-Cabo F, Ibanez B, Cortes-Canteli M, Fuster V. Toribio-Fernández R, et al. Among authors: blanco kelly f. Circ Res. 2024 Feb 16;134(4):411-424. doi: 10.1161/CIRCRESAHA.123.323921. Epub 2024 Jan 23. Circ Res. 2024. PMID: 38258600 Free article.
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Barañano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM. Karayol R, et al. Among authors: blanco kelly f. Am J Hum Genet. 2024 Jul 11;111(7):1330-1351. doi: 10.1016/j.ajhg.2024.05.001. Epub 2024 May 29. Am J Hum Genet. 2024. PMID: 38815585 Free PMC article.
79 results