C. Skrzynia

发表

Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors

Julie O. Culver, A. Trepanier, R. Nagy, 2012, Journal of Genetic Counseling.

Renaturation of Escherichia coli tryptophanase after exposure to 8 M urea. Evidence for the existence of nucleation centers.

M. Goldberg, C. Skrzynia, J. London, 1974, European journal of biochemistry.

Frequent changes in the number of reiterated ribosomal RNA genes throughout the life cycle of the basidiomycete Coprinus cinereus.

P. Pukkila, C. Skrzynia, Cecile Skrzynia, 1993, Genetics.

Independent synaptic behavior of sister chromatids in Coprinus cinereus

P. Pukkila, K. B. Shannon, C. Skrzynia, 1995 .

Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors

Julie O. Culver, Susan Manley, A. Trepanier, 2004, Journal of Genetic Counseling.

In-frame deletions of BRCA1 may define critical functional domains

W. Grody, Qing Yang, C. Chung, 2000, Human Genetics.

A Pilot Study of BRCA Mutation Carriers’ Knowledge About the Clinical Impact of Prophylactic-oophorectomy and Views on Fertility Consultation: A Single-Center Pilot Study

C. Skrzynia, J. Mersereau, J. Kim, 2015, Journal of Genetic Counseling.

Increased uptake of BRCA1/2 genetic testing among African American women with a recent diagnosis of breast cancer.

James P Evans, L. Lange, J. Booker, 2008, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

The new genetics and its consequences for family, kinship, medicine and medical genetics.

James P Evans, K. Finkler, C. Skrzynia, 2003, Social science & medicine.

The rad3-1 mutant is defective in axial core assembly and homologous chromosome pairing during meiosis in the basidiomycete Coprinus cinereus

P. Pukkila, C. Skrzynia, B. Lu, 1992 .

Characterization of cDNA clones for human glycophorin A. Use for gene localization and for analysis of normal of glycophorin-A-deficient (Finnish type) genomic DNA.

F. Galibert, M. Mattei, C. Tournamille, 1988, European journal of biochemistry.

An Alu‐mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10

B. Weber, J. Garber, G. Lenoir, 2000, Genes, chromosomes & cancer.

The levels of corticosterone-binding proteins in rat milk and coincidental serum, and the dissociation rates of the corticosterone.protein complexes.

M. Hampel, C. Skrzynia, M. R. Hampel, 1981, Endocrinology.

Genetic Counseling and Testing for Hypertrophic Cardiomyopathy: the Pediatric Perspective

C. Skrzynia, Samantha M. Baxter, Erin M. Demo, 2009, Journal of cardiovascular translational research.

Genetic Counseling and Testing for Hypertrophic Cardiomyopathy: An Adult Perspective

C. Skrzynia, Samantha M. Baxter, Erin M. Demo, 2009, Journal of cardiovascular translational research.

Targeted transformation in Coprinus cinereus

C. Skrzynia, C. Shubkin, D. Binninger, 1991, Molecular and General Genetics MGG.

DNA‐mediated transformation of the basidiomycete Coprinus cinereus.

P. Pukkila, L. Casselton, C. Skrzynia, 1987, The EMBO journal.

Prospective multicenter cohort study of estrogen and insulin-like growth factor system in BRCA mutation carriers

C. Gracia, C. Skrzynia, A. Buchanan, 2015, Cancer Causes & Control.

Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family.

Christian R. Tilley, E. Lange, J. Berg, 2017, The Journal of heart valve disease.

Molecular characterization of TRP1, a gene coding for tryptophan synthetase in the basidiomycete Coprinus cinereus.

P. Pukkila, C. Skrzynia, J. Alspaugh, 1989, Gene.

A temperature-sensitive mutation of Coprinus cinereus, hyt1-1, that causes swelling of hyphal tips

P. Pukkila, T. Kamada, C. Skrzynia, 1997, Current Genetics.

Genetics and the young woman with breast cancer.

James P Evans, C. Skrzynia, L. Susswein, 2005, Breast disease.

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

J. Berg, Julianne M. O’Daniel, Kristy Lee, 2015, Genetics in Medicine.

The complexities of predictive genetic testing

Wylie Burke, James P Evans, W. Burke, 2001, BMJ : British Medical Journal.

Characterization of the catalytic subunit of factor XIII by radioimmunoassay.

C. Skrzynia, J. Mcdonagh, H. Reisner, 1982, Blood.

Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease

Christian R. Tilley, J. Berg, K. Wilhelmsen, 2017, Circulation. Cardiovascular genetics.

Genetics and Heart Failure: A Concise Guide for the Clinician

J. Berg, B. Jensen, C. Skrzynia, 2014, Current cardiology reviews.

Genetic testing for colorectal carcinoma susceptibility

B. Devellis, A. Kinney, C. Skrzynia, 2001, Cancer.

The renaturation of reduced polyalanyl-chymotrypsinogen and chymotrypsinogen.

M. Goldberg, C. Skrzynia, G. Orsini, 1975, European journal of biochemistry.

The tryptophanase from Escherichia coli K12. 3. Further characterization of hybrids between the apo- and holoenzyme.

M. Goldberg, C. Skrzynia, J. London, 1974, The Journal of biological chemistry.