Mutations in the γ-Actin Gene ( ACTG1) Are Associated with Dominant Progressive Deafness (DFNA20/26)
Zhu, M., Yang, T., Wei, S., DeWan, A.T., Morell, R.J., Elfenbein, J.L., Fisher, R.A., Leal, S.M., Smith, R. J.H., Friderici, K.H.
Published in American journal of human genetics (01.11.2003)
Published in American journal of human genetics (01.11.2003)
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Association and linkage of alpha-2A adrenergic receptor gene polymorphisms with childhood ADHD
Park, L, Nigg, J T, Waldman, I D, Nummy, K A, Huang-Pollock, C, Rappley, M, Friderici, K H
Published in Molecular psychiatry (01.06.2005)
Published in Molecular psychiatry (01.06.2005)
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A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression
Wilch, E, Azaiez, H, Fisher, RA, Elfenbein, J, Murgia, A, Birkenhäger, R, Bolz, H, Da Silva-Costa, SM, Del Castillo, I, Haaf, T, Hoefsloot, L, Kremer, H, Kubisch, C, Le Marechal, C, Pandya, A, Sartorato, EL, Schneider, E, Van Camp, G, Wuyts, W, Smith, RJH, Friderici, KH
Published in Clinical genetics (01.09.2010)
Published in Clinical genetics (01.09.2010)
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Expression of GJB2 and GJB6 Is Reduced in a Novel DFNB1 Allele
Wilch, Ellen, Zhu, Mei, Burkhart, Kirk B., Regier, Martha, Elfenbein, Jill L., Fisher, Rachel A., Friderici, Karen H.
Published in American journal of human genetics (01.07.2006)
Published in American journal of human genetics (01.07.2006)
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Depressive symptoms in mid‐pregnancy, lifetime stressors and the 5‐HTTLPR genotype
Scheid, J. M., Holzman, C. B., Jones, N., Friderici, K. H., Nummy, K. A., Symonds, L. L., Sikorskii, A., Regier, M. K., Fisher, R.
Published in Genes, brain and behavior (01.07.2007)
Published in Genes, brain and behavior (01.07.2007)
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β-Mannosidosis mice: a model for the human lysosomal storage disease
Zhu, Mei, Lovell, Kathryn L., Patterson, Jon S., Saunders, Thomas L., Hughes, Elizabeth D., Friderici, Karen H.
Published in Human molecular genetics (01.02.2006)
Published in Human molecular genetics (01.02.2006)
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Life stressors and 5-HTTLPR interaction in relation to midpregnancy depressive symptoms among African-American women
Scheid, Jeanette M, Holzman, Claudia B, Jones, Nicole, Friderici, Karen H, Jernigan, Katherine A, Symonds, Laura L, Sikorskii, Alla, Fisher, Rachel
Published in Psychiatric genetics (01.12.2011)
Published in Psychiatric genetics (01.12.2011)
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Connexin 26 35delG does not represent a mutational hotspot
ROTHROCK, Caryn R, MURGIA, Alessandra, SARTORATO, Edi L, LEONARDI, Emanuela, WEI, Sainan, LEBEIS, Sarah L, YU, Laura E, ELFENBEIN, Jill L, FISHER, Rachel A, FRIDERICI, Karen H
Published in Human genetics (01.07.2003)
Published in Human genetics (01.07.2003)
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Human β-Mannosidase cDNA Characterization and First Identification of a Mutation Associated with Human β-Mannosidosis
Alkhayat, Aisha H., Kraemer, Stacey A., Leipprandt, Jeffrey R., Macek, Milan, Kleijer, Wim J., Friderici, Karen H.
Published in Human molecular genetics (01.01.1998)
Published in Human molecular genetics (01.01.1998)
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Caprine β-Mannosidase: Sequencing and Characterization of the cDNA and Identification of the Molecular Defect of Caprine β-Mannosidosis
Leipprandt, Jeffrey R., Kraemer, Stacey A., Haithcock, Benjamin E., Chen, Hong, Dyme, Joshua L., Cavanagh, Kevin T., Friderici, Karen H., Jones, Margaret Z.
Published in Genomics (San Diego, Calif.) (01.10.1996)
Published in Genomics (San Diego, Calif.) (01.10.1996)
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Molecular cloning and characterization of bovine beta-mannosidase
Chen, H. (Michigan State University, East Lansing, MI.), Leipprandt, J.R, Traviss, C.E, Sopher, B.L, Jones, M.Z, Cavanagh, K.T, Friderici, K.H
Published in The Journal of biological chemistry (24.02.1995)
Published in The Journal of biological chemistry (24.02.1995)
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Bovine kidney β-mannosidase : purification and characterization
SOPHER, B. L, TRAVISS, C. E, CAVANAGH, K. T, JONES, M. Z, FRIDERICI, K. H
Published in Biochemical journal (15.01.1993)
Published in Biochemical journal (15.01.1993)
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Beta-mannosidase maps to cattle chromosome 6
Schmutz, S M, Moker, J S, Leipprandt, J R, Friderici, K H
Published in Mammalian genome (01.06.1996)
Published in Mammalian genome (01.06.1996)
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Purification and characterization of goat lysosomal beta-mannosidase using monoclonal and polyclonal antibodies
Sopher, B.L. (Michigan State University, East Lansing, MI), Traviss, C.E, Cavanagh, K.T, Jones, M.Z, Friderici, K.H
Published in The Journal of biological chemistry (25.03.1992)
Published in The Journal of biological chemistry (25.03.1992)
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