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CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.
Nag A, Bochukova EG, Kremeyer B, Campbell DD, Muller H, Valencia-Duarte AV, Cardona J, Rivas IC, Mesa SC, Cuartas M, Garcia J, Bedoya G, Cornejo W, Herrera LD, Romero R, Fournier E, Reus VI, Lowe TL, Farooqi IS; Tourette Syndrome Association International Consortium for Genetics; Mathews CA, McGrath LM, Yu D, Cook E, Wang K, Scharf JM, Pauls DL, Freimer NB, Plagnol V, Ruiz-Linares A. Nag A, et al. PLoS One. 2013;8(3):e59061. doi: 10.1371/journal.pone.0059061. Epub 2013 Mar 22. PLoS One. 2013. PMID: 23533600 Free PMC article.
An association study of bipolar mood disorder (type I) with the 5-HTTLPR serotonin transporter polymorphism in a human population isolate from Colombia.
Ospina-Duque J, Duque C, Carvajal-Carmona L, Ortiz-Barrientos D, Soto I, Pineda N, Cuartas M, Calle J, Lopez C, Ochoa L, Garcia J, Gomez J, Agudelo A, Lozano M, Montoya G, Ospina A, Lopez M, Gallo A, Miranda A, Serna L, Montoya P, Palacio C, Bedoya G, McCarthy M, Reus V, Freimer N, Ruiz-Linares A. Ospina-Duque J, et al. Neurosci Lett. 2000 Oct 13;292(3):199-202. doi: 10.1016/s0304-3940(00)01464-6. Neurosci Lett. 2000. PMID: 11018311
Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies.
Service S, DeYoung J, Karayiorgou M, Roos JL, Pretorious H, Bedoya G, Ospina J, Ruiz-Linares A, Macedo A, Palha JA, Heutink P, Aulchenko Y, Oostra B, van Duijn C, Jarvelin MR, Varilo T, Peddle L, Rahman P, Piras G, Monne M, Murray S, Galver L, Peltonen L, Sabatti C, Collins A, Freimer N. Service S, et al. Nat Genet. 2006 May;38(5):556-60. doi: 10.1038/ng1770. Epub 2006 Apr 2. Nat Genet. 2006. PMID: 16582909
A genetic cluster of early onset Parkinson's disease in a Colombian population.
Pineda-Trujillo N, Apergi M, Moreno S, Arias W, Lesage S, Franco A, Sepulveda-Falla D, Cano D, Buriticá O, Pineda D, Uribe CS, de Yebenes JG, Lees AJ, Brice A, Bedoya G, Lopera F, Ruiz-Linares A. Pineda-Trujillo N, et al. Am J Med Genet B Neuropsychiatr Genet. 2006 Dec 5;141B(8):885-9. doi: 10.1002/ajmg.b.30375. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16941654
Convergent linkage evidence from two Latin-American population isolates supports the presence of a susceptibility locus for bipolar disorder in 5q31-34.
Herzberg I, Jasinska A, García J, Jawaheer D, Service S, Kremeyer B, Duque C, Parra MV, Vega J, Ortiz D, Carvajal L, Polanco G, Restrepo GJ, López C, Palacio C, Levinson M, Aldana I, Mathews C, Davanzo P, Molina J, Fournier E, Bejarano J, Ramírez M, Ortiz CA, Araya X, Sabatti C, Reus V, Macaya G, Bedoya G, Ospina J, Freimer N, Ruiz-Linares A. Herzberg I, et al. Hum Mol Genet. 2006 Nov 1;15(21):3146-53. doi: 10.1093/hmg/ddl254. Epub 2006 Sep 19. Hum Mol Genet. 2006. PMID: 16984960
152 results