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Page 1
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
Magré J, Delépine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J; BSCL Working Group. Magré J, et al. Nat Genet. 2001 Aug;28(4):365-70. doi: 10.1038/ng585. Nat Genet. 2001. PMID: 11479539
A susceptibility locus for migraine with aura, on chromosome 4q24.
Wessman M, Kallela M, Kaunisto MA, Marttila P, Sobel E, Hartiala J, Oswell G, Leal SM, Papp JC, Hämäläinen E, Broas P, Joslyn G, Hovatta I, Hiekkalinna T, Kaprio J, Ott J, Cantor RM, Zwart JA, Ilmavirta M, Havanka H, Färkkilä M, Peltonen L, Palotie A. Wessman M, et al. Among authors: papp jc. Am J Hum Genet. 2002 Mar;70(3):652-62. doi: 10.1086/339078. Epub 2002 Feb 8. Am J Hum Genet. 2002. PMID: 11836652 Free PMC article.
Merging microsatellite data.
Presson AP, Sobel E, Lange K, Papp JC. Presson AP, et al. Among authors: papp jc. J Comput Biol. 2006 Jul-Aug;13(6):1131-47. doi: 10.1089/cmb.2006.13.1131. J Comput Biol. 2006. PMID: 16901233
A heterozygote-homozygote test of Hardy-Weinberg equilibrium.
Zhou JJ, Lange K, Papp JC, Sinsheimer JS. Zhou JJ, et al. Among authors: papp jc. Eur J Hum Genet. 2009 Nov;17(11):1495-500. doi: 10.1038/ejhg.2009.57. Epub 2009 Apr 15. Eur J Hum Genet. 2009. PMID: 19367317 Free PMC article.
Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.
Aldave AJ, Rosenwasser GO, Yellore VS, Papp JC, Sobel EM, Pham MN, Chen MC, Dandekar S, Sripracha R, Rayner SA, Sassani JW, Gorin MB. Aldave AJ, et al. Among authors: papp jc. Invest Ophthalmol Vis Sci. 2010 Aug;51(8):4006-12. doi: 10.1167/iovs.09-4067. Epub 2010 Mar 31. Invest Ophthalmol Vis Sci. 2010. PMID: 20357198 Free PMC article.
139 results