Works by Friderici, Karen H.

Results: 10

A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 10, p. 1097, doi. 10.1038/sj.ejhg.5201670

By:

Rendtorff, Nanna D.;
Mei Zhu;
Fagerheim, Toril;
Antal, Torben L.;
Jones, MaryPat;
Teslovich, Tanya M.;
Gillanders, Elizabeth M.;
Barmada, Michael;
Teig, Erik;
Trent, Jeffrey M.;
Friderici, Karen H.;
Stephan, Dietrich A.;
Tranebjærg, Lisbeth

Publication type:

Article

SNP Discovery and Haplotype Analysis in the Segmentally Duplicated DRD5 Coding Region.

Published in:

Annals of Human Genetics, 2009, v. 73, n. 3, p. 274, doi. 10.1111/j.1469-1809.2009.00513.x

By:

Housley, Donna J. E.;
Nikolas, Molly;
Venta, Patrick J.;
Jernigan, Kathrine A.;
Waldman, Irwin D.;
Nigg, Joel T.;
Friderici, Karen H.

Publication type:

Article

A Novel Actin mRNA Splice Variant Regulates ACTG1 Expression.

Published in:

PLoS Genetics, 2013, v. 9, n. 10, p. 1, doi. 10.1371/journal.pgen.1003743

By:

Drummond, Meghan C.;
Friderici, Karen H.

Publication type:

Article

Does 5HTTLPR Genotype Moderate the Association of Family Environment With Child Attention-Deficit Hyperactivity Disorder Symptomatology?

Published in:

Journal of Clinical Child & Adolescent Psychology, 2016, v. 45, n. 3, p. 348, doi. 10.1080/15374416.2014.979935

By:

Elmore, Alexis L.;
Nigg, Joel T.;
Friderici, Karen H.;
Jernigan, Katherine;
Nikolas, Molly A.

Publication type:

Article

Neuropsychological performance measures as intermediate phenotypes for attention-deficit/hyperactivity disorder: A multiple mediation analysis.

Published in:

Development & Psychopathology, 2017, v. 29, n. 1, p. 259, doi. 10.1017/S0954579416000195

By:

Cummings, E. Mark;
Merrilees, Christine E.;
Taylor, Laura K.;
Mondi, Christina F.;
Kamradt, Jaclyn M.;
Nigg, Joel T.;
Friderici, Karen H.;
Nikolas, Molly A.

Publication type:

Article

β-Mannosidosis mice: a model for the human lysosomal storage disease.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 3, p. 493, doi. 10.1093/hmg/ddi465

By:

Zhu, Mei;
Lovell, Kathryn L.;
Patterson, Jon S.;
Saunders, Thomas L.;
Hughes, Elizabeth D.;
Friderici, Karen H.

Publication type:

Article

Human β-mannosidase cDNA characterization and first identification of a mutation associated with human β-mannosidosis.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 75, doi. 10.1093/hmg/7.1.75

By:

Alkhayat, Aisha H.;
Kraemer, Stacey A.;
Leipprandt, Jeffrey R.;
Macek, Milan;
Kleijer, Wim J.;
Friderici, Karen H.

Publication type:

Article

Pedigree Structure and Kinship Measurements of a Mid-Michigan Community: A New North American Population Isolate Identified.

Published in:

Human Biology, 2014, v. 86, n. 1, p. 59, doi. 10.3378/027.086.0103

By:

Bonner, Joseph D.;
Fisher, Rachel;
Klein, James;
Lu, Qing;
Wilch, Ellen;
Friderici, Karen H.;
Elfenbein, Jill L.;
Schutte, Debra L.;
Schutte, Brian C.

Publication type:

Article

The Influence of Tissue Plasminogen Activator I/D Polymorphism on the tPA Response to Exercise.

Published in:

International Journal of Exercise Science, 2018, v. 11, n. 3, p. 1136, doi. 10.70252/hfsz9901

By:

COUGHLIN, ADAM M.;
NAGELKIRK, PAUL R.;
COOPER, JAMIE A.;
PATON, CHAD M.;
FRIDERICI, KAREN H.;
WINGERD, BYRON A.;
PIVARNIK, JAMES M.;
WOMACK, CHRISTOPHER J.

Publication type:

Article

Connexin 26 35delG does not represent a mutational hotspot.

Published in:

Human Genetics, 2003, v. 113, n. 1, p. 18, doi. 10.1007/s00439-003-0944-2

By:

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.

Publication type:

Article