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Year Number of Results
1963 1
1978 1
1982 2
1986 1
1987 1
1988 2
1989 3
1990 2
1991 1
1993 5
1995 4
1996 2
1997 4
1998 2
1999 4
2000 5
2001 5
2002 8
2003 6
2004 15
2005 11
2006 17
2007 15
2008 16
2009 12
2010 17
2011 19
2012 35
2013 30
2014 53
2015 80
2016 81
2017 90
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2019 69
2020 82
2021 76
2022 67
2023 81
2024 24

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Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.
Planas-Serra L, Launay N, Goicoechea L, Heron B, Jou C, Juliá-Palacios N, Ruiz M, Fourcade S, Casasnovas C, De La Torre C, Gelot A, Marsal M, Loza-Alvarez P, García-Cazorla À, Fatemi A, Ferrer I, Portero-Otin M, Area-Gómez E, Pujol A. Planas-Serra L, et al. J Clin Invest. 2023 May 15;133(10):e162957. doi: 10.1172/JCI162957. J Clin Invest. 2023. PMID: 36951944 Free PMC article.
The dihydroceramide desaturase delta4-dihydroceramide desaturase 1 (DEGS1) acts in the last step of a sector of the sphingolipid pathway, de novo ceramide biosynthesis. Defects in DEGS1 cause the recently described hypomyelinating leukodystrophy-18 (HLD18) (OMIM #618404). …
The dihydroceramide desaturase delta4-dihydroceramide desaturase 1 (DEGS1) acts in the last step of a sector of the sphingolipid pathway, …
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG, Luna JD, Labat N, Yadarola MB, Bainttein S, Esposito E, Ibañez A, Barbaro EI, Álvarez Mendiara A, Picotti CP, Chirino Misisian A, Andreussi L, Gras J, Capalbo L, Visotto M, Dipierri JE, Alcoba E, Fernández Gabrielli L, Ávila S, Aucar ME, Martin DM, Ormaechea GJ, Inga ME, Francone AA, Charles M, Zompa T, Pérez PJ, Lotersztein V, Nuova PJ, Canonero IB, Mahroo OA, Michaelides M, Arno G, Daich Varela M. Schlottmann PG, et al. NPJ Genom Med. 2023 May 22;8(1):8. doi: 10.1038/s41525-023-00352-1. NPJ Genom Med. 2023. PMID: 37217489 Free PMC article.
USH2A was the most frequent gene associated with RP, RDH12 early-onset severe retinal dystrophy, ABCA4 Stargardt disease, PROM1 cone-rod dystrophy, and BEST1 macular dystrophy. The most frequent variants were RPGR c.1345 C > T, p.(Arg449*) and USH2A c.1508 …
USH2A was the most frequent gene associated with RP, RDH12 early-onset severe retinal dystrophy, ABCA4 Stargardt disease, PROM1 cone-rod dys …
Nitro-fatty acid formation and metabolism.
Buchan GJ, Bonacci G, Fazzari M, Salvatore SR, Gelhaus Wendell S. Buchan GJ, et al. Nitric Oxide. 2018 Sep 1;79:38-44. doi: 10.1016/j.niox.2018.07.003. Epub 2018 Jul 10. Nitric Oxide. 2018. PMID: 30006146 Free PMC article. Review.
Current vision on diagnosis and comprehensive care in hepatic encephalopathy.
Higuera-de-la-Tijera F, Velarde-Ruiz Velasco JA, Raña-Garibay RH, Castro-Narro GE, Abdo-Francis JM, Moreno-Alcántar R, Pérez-Hernández JL, Torre A, Contreras-Omaña R, Cano-Contreras A, Castillo-Barradas M, Pérez-Escobar J, Aldana-Ledesma JM, Cerda-Reyes E, Fernández-Pérez NJ, Meza-Cardona J, Flores-García NC, Reyes-Bastidas M, Lira-Vera JE, García-Jiménez ES, Santana-Vargas D, Páez-Zayas VM, Chávez-Tapia NC, Márquez-Guillén E. Higuera-de-la-Tijera F, et al. Rev Gastroenterol Mex (Engl Ed). 2023 Apr-Jun;88(2):155-174. doi: 10.1016/j.rgmxen.2023.04.006. Epub 2023 Apr 29. Rev Gastroenterol Mex (Engl Ed). 2023. PMID: 37127462 Free article.
Almost 14 years since that first publication, numerous advances in the field of diagnosis, treatment, and special condition care have been made. Therefore, as an initiative of the Asociacion Mexicana de Gastroenterologia A.C., we present a current view of those aspe …
Almost 14 years since that first publication, numerous advances in the field of diagnosis, treatment, and special condition care have been m …
SELNET clinical practice guidelines for bone sarcoma.
Blay JY, Palmerini E, Bollard J, Aguiar S, Angel M, Araya B, Badilla R, Bernabeu D, Campos F, Chs CS, Carvajal Montoya A, Casavilca-Zambrano S, Castro-Oliden 5th, Chacón M, Clara-Altamirano MA, Collini P, Correa Genoroso R, Costa FD, Cuellar M, Dei Tos AP, Dominguez Malagon HR, Donati DM, Dufresne A, Eriksson M, Farias-Loza M, Frezza AM, Frisoni T, Garcia-Ortega DY, Gerderblom H, Gouin F, Gómez-Mateo MC, Gronchi A, Haro J, Hindi N, Huanca L, Jimenez N, Karanian M, Kasper B, Lopes A, Lopes David BB, Lopez-Pousa A, Lutter G, Maki RG, Martinez-Said H, Martinez-Tlahuel JL, Mello CA, Morales Pérez JM, Moura DS, Nakagawa SA, Nascimento AG, Ortiz-Cruz EJ, Patel S, Pfluger Y, Provenzano S, Righi A, Rodriguez A, Santos TG, Scotlandi K, Mlg S, Soulé T, Stacchiotti S, Valverde CM, Waisberg F, Zamora Estrada E, Martin-Broto J. Blay JY, et al. Crit Rev Oncol Hematol. 2022 Jun;174:103685. doi: 10.1016/j.critrevonc.2022.103685. Epub 2022 Apr 21. Crit Rev Oncol Hematol. 2022. PMID: 35460913 Free article. Review.
Alcohol consumption and the risk of renal cancers in the European Prospective Investigation into Cancer and Nutrition (EPIC). Wozniak MB, Brennan P, Brenner DR, Overvad K, Olsen A, Tjonneland A, Boutron-Ruault MC, Clavel-Chapelon F, Fagherazzi G, Katzke V, Kuhn T, Boeing H, Bergmann MM, Steffen A, Naska A, Trichopoulou A, Trichopoulos D, Saieva C, Grioni S, Panico S, Tumino R, Vineis P, Bueno-de-Mesquita HB, Peeters PH, Hjartaker A, Weiderpass E, Arriola L, Molina-Montes E, Duell EJ, Santiuste C, Alonso de la Torre R, Barricarte Gurrea A, Stocks T, Johansson M, Ljungberg B, Wareham N, Khaw KT, Travis RC, Cross AJ, Murphy N, Riboli E, Scelo G.Int J Cancer. 2015 Oct 15;137(8):1953-66. [Epub 2015 Apr 28]. doi: 10.1002/ijc.29559.
Jay R, Brennan P, Brenner, Overvad K, Olsen A, Tjønneland A, Boutron-Ruault MC, Clavel-Chapelon F, Fagherazzi, Katzke V, Kühn T, Boeing H, Bergmann MM, Steffen A, Naska A, Trichopoulou A, Trichopoulos D, Saieva C, Grioni S, Panico S, Tumino R, Vineis P, Bueno-de-Mesquita HB, Peeters PH, Hjartåker A, Weiderpass E, Arriola L, Molina-Montes E, Duell EJ, Santiuste C, Alonso de la Torre R, Barricarte Gurrea A, Stocks T, Johansson M, Ljungberg B, Wareham N, Khaw KT, Travis RC, Cross AJ, Murphy N, Riboli E, Scelo G. Jay R, et al. Urol Oncol. 2017 Mar;35(3):117. doi: 10.1016/j.urolonc.2016.12.022. Epub 2017 Feb 1. Urol Oncol. 2017. PMID: 28159493 Free article.
Biosafety of mesoporous silica nanoparticles; towards clinical translation.
Lérida-Viso A, Estepa-Fernández A, García-Fernández A, Martí-Centelles V, Martínez-Máñez R. Lérida-Viso A, et al. Adv Drug Deliv Rev. 2023 Oct;201:115049. doi: 10.1016/j.addr.2023.115049. Epub 2023 Aug 12. Adv Drug Deliv Rev. 2023. PMID: 37573951 Free article. Review.
Nanosystems Applied to HIV Infection: Prevention and Treatments.
Macchione MA, Aristizabal Bedoya D, Figueroa FN, Muñoz-Fernández MÁ, Strumia MC. Macchione MA, et al. Int J Mol Sci. 2020 Nov 17;21(22):8647. doi: 10.3390/ijms21228647. Int J Mol Sci. 2020. PMID: 33212766 Free PMC article. Review.
932 results