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Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity.
Bull LN, Carlton VE, Stricker NL, Baharloo S, DeYoung JA, Freimer NB, Magid MS, Kahn E, Markowitz J, DiCarlo FJ, McLoughlin L, Boyle JT, Dahms BB, Faught PR, Fitzgerald JF, Piccoli DA, Witzleben CL, O'Connell NC, Setchell KD, Agostini RM Jr, Kocoshis SA, Reyes J, Knisely AS. Bull LN, et al. Among authors: deyoung ja. Hepatology. 1997 Jul;26(1):155-64. doi: 10.1002/hep.510260121. Hepatology. 1997. PMID: 9214465
Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.
Bull LN, Juijn JA, Liao M, van Eijk MJ, Sinke RJ, Stricker NL, DeYoung JA, Carlton VE, Baharloo S, Klomp LW, Abukawa D, Barton DE, Bass NM, Bourke B, Drumm B, Jankowska I, Lovisetto P, McQuaid S, Pawlowska J, Tazawa Y, Villa E, Tygstrup N, Berger R, Knisely AS, Freimer NB, et al. Bull LN, et al. Among authors: deyoung ja. Hum Genet. 1999 Mar;104(3):241-8. doi: 10.1007/pl00008714. Hum Genet. 1999. PMID: 10323248
Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, Juijn JA, Pabón-Peña C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der Brugge G, Berger R, Jankowska I, Pawlowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RH, Bull LN. Klomp LW, et al. Among authors: deyoung ja. Hepatology. 2004 Jul;40(1):27-38. doi: 10.1002/hep.20285. Hepatology. 2004. PMID: 15239083
Polymorphisms in the GRIA1 gene region in psychotic bipolar disorder.
Kerner B, Jasinska AJ, DeYoung J, Almonte M, Choi OW, Freimer NB. Kerner B, et al. Am J Med Genet B Neuropsychiatr Genet. 2009 Jan 5;150B(1):24-32. doi: 10.1002/ajmg.b.30780. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 18484081 Free PMC article.
37 results