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

Year Number of Results
1953 1
1992 1
1993 3
1994 2
1995 3
1996 3
1997 3
1998 3
1999 2
2000 3
2001 4
2003 1
2004 1
2005 1
2006 5
2007 8
2008 9
2009 6
2010 10
2011 11
2012 11
2013 8
2014 12
2015 7
2016 8
2017 5
2018 8
2019 14
2020 19
2021 15
2022 14
2023 22
2024 3

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190 results

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Page 1
Mapping genomic loci implicates genes and synaptic biology in schizophrenia.
Trubetskoy V, Pardiñas AF, Qi T, Panagiotaropoulou G, Awasthi S, Bigdeli TB, Bryois J, Chen CY, Dennison CA, Hall LS, Lam M, Watanabe K, Frei O, Ge T, Harwood JC, Koopmans F, Magnusson S, Richards AL, Sidorenko J, Wu Y, Zeng J, Grove J, Kim M, Li Z, Voloudakis G, Zhang W, Adams M, Agartz I, Atkinson EG, Agerbo E, Al Eissa M, Albus M, Alexander M, Alizadeh BZ, Alptekin K, Als TD, Amin F, Arolt V, Arrojo M, Athanasiu L, Azevedo MH, Bacanu SA, Bass NJ, Begemann M, Belliveau RA, Bene J, Benyamin B, Bergen SE, Blasi G, Bobes J, Bonassi S, Braun A, Bressan RA, Bromet EJ, Bruggeman R, Buckley PF, Buckner RL, Bybjerg-Grauholm J, Cahn W, Cairns MJ, Calkins ME, Carr VJ, Castle D, Catts SV, Chambert KD, Chan RCK, Chaumette B, Cheng W, Cheung EFC, Chong SA, Cohen D, Consoli A, Cordeiro Q, Costas J, Curtis C, Davidson M, Davis KL, de Haan L, Degenhardt F, DeLisi LE, Demontis D, Dickerson F, Dikeos D, Dinan T, Djurovic S, Duan J, Ducci G, Dudbridge F, Eriksson JG, Fañanás L, Faraone SV, Fiorentino A, Forstner A, Frank J, Freimer NB, Fromer M, Frustaci A, Gadelha A, Genovese G, Gershon ES, Giannitelli M, Giegling I, Giusti-Rodríguez P, Godard S, Goldstein JI, González Peñas J, González-Pinto A, … See abstract for full author list ➔ Trubetskoy V, et al. Among authors: martorell l. Nature. 2022 Apr;604(7906):502-508. doi: 10.1038/s41586-022-04434-5. Epub 2022 Apr 8. Nature. 2022. PMID: 35396580 Free PMC article.
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E. Gutiérrez Gutiérrez G, et al. Among authors: martorell l. Neurologia (Engl Ed). 2020 Apr;35(3):185-206. doi: 10.1016/j.nrl.2019.01.001. Epub 2019 Apr 16. Neurologia (Engl Ed). 2020. PMID: 31003788 Free article. English, Spanish.
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics; Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Bachmann-Gagescu R, et al. Among authors: martorell l. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D. Nascimento A, et al. Among authors: martorell l. Acta Neuropathol. 2023 Apr;145(4):479-496. doi: 10.1007/s00401-023-02551-7. Epub 2023 Feb 17. Acta Neuropathol. 2023. PMID: 36799992 Free PMC article.
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M. Amyere M, et al. Among authors: martorell l. Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7. Circulation. 2017. PMID: 28687708 Free article.
Polygenic contribution to the relationship of loneliness and social isolation with schizophrenia.
Andreu-Bernabeu Á, Díaz-Caneja CM, Costas J, De Hoyos L, Stella C, Gurriarán X, Alloza C, Fañanás L, Bobes J, González-Pinto A, Crespo-Facorro B, Martorell L, Vilella E, Muntané G, Nacher J, Molto MD, Aguilar EJ, Parellada M, Arango C, González-Peñas J. Andreu-Bernabeu Á, et al. Among authors: martorell l. Nat Commun. 2022 Jan 10;13(1):51. doi: 10.1038/s41467-021-27598-6. Nat Commun. 2022. PMID: 35013163 Free PMC article.
Shared genetic architecture between attention-deficit/hyperactivity disorder and lifespan.
Vilar-Ribó L, Cabana-Domínguez J, Martorell L, Ramos-Quiroga JA, Sanchez-Roige S, Palmer AA, Vilella E, Ribasés M, Muntané G, Soler Artigas M. Vilar-Ribó L, et al. Among authors: martorell l. Neuropsychopharmacology. 2023 Jun;48(7):981-990. doi: 10.1038/s41386-023-01555-x. Epub 2023 Mar 11. Neuropsychopharmacology. 2023. PMID: 36906694 Free PMC article.
Mitochondrial DNA (mtDNA) and schizophrenia.
Verge B, Alonso Y, Valero J, Miralles C, Vilella E, Martorell L. Verge B, et al. Among authors: martorell l. Eur Psychiatry. 2011 Jan;26(1):45-56. doi: 10.1016/j.eurpsy.2010.08.008. Epub 2010 Oct 25. Eur Psychiatry. 2011. PMID: 20980130 Review.
Common genetic variants contribute to heritability of age at onset of schizophrenia.
Sada-Fuente E, Aranda S, Papiol S, Heilbronner U, Moltó MD, Aguilar EJ, González-Peñas J, Andreu-Bernabeu Á, Arango C, Crespo-Facorro B, González-Pinto A, Fañanás L, Arias B, Bobes J, Costas J, Martorell L, Schulze TG, Kalman JL, Vilella E, Muntané G. Sada-Fuente E, et al. Among authors: martorell l. Transl Psychiatry. 2023 Jun 13;13(1):201. doi: 10.1038/s41398-023-02508-0. Transl Psychiatry. 2023. PMID: 37308478 Free PMC article.
190 results