Vascular elastic fiber heterogeneity in health and disease

od Halabi, Carmen M., Kozel, Beth A.
Izdano u Curr Opin Hematol (2020)

Exome sequencing of 85 Williams–Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior

od Kopp, Nathan D., Parrish, Phoebe C. R., Lugo, Michael, Dougherty, Joseph D., Kozel, Beth A.
Izdano u Mol Genet Genomic Med (2018)

Genetic Modifiers of Cardiovascular Phenotype Caused by Elastin Haploinsufficiency Act by Extrinsic Noncomplementation

od Kozel, Beth A., Knutsen, Russell H., Ye, Li, Ciliberto, Christopher H., Broekelmann, Thomas J., Mecham, Robert P.
Izdano 2011

Chronic antihypertensive treatment improves pulse pressure but not large artery mechanics in a mouse model of congenital vascular stiffness

od Halabi, Carmen M., Broekelmann, Thomas J., Knutsen, Russell H., Ye, Li, Mecham, Robert P., Kozel, Beth A.
Izdano u Am J Physiol Heart Circ Physiol (2015)

Effects of Obesity and Hypertension on Pulse Wave Velocity in Children

od Kulsum‐Mecci, Nazia, Goss, Charles, Kozel, Beth A., Garbutt, Jane M., Schechtman, Kenneth B., Dharnidharka, Vikas R.
Izdano u J Clin Hypertens (Greenwich) (2016)

Altered reactivity of resistance vasculature contributes to hypertension in elastin insufficiency

od Osei-Owusu, Patrick, Knutsen, Russell H., Kozel, Beth A., Dietrich, Hans H., Blumer, Kendall J., Mecham, Robert P.
Izdano 2014

Skin Findings in Williams Syndrome

od Kozel, Beth A., Bayliss, Susan J., Berk, David R., Waxler, Jessica L, Knutsen, Russell H., Danback, Joshua R., Pober, Barbara R.
Izdano 2014

Whole exome sequencing in patients with Williams–Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk

od Parrish, Phoebe C R, Liu, Delong, Knutsen, Russell H, Billington, Charles J, Mecham, Robert P, Fu, Yi-Ping, Kozel, Beth A
Izdano u Hum Mol Genet (2020)

WILLIAMS SYNDROME PREDISPOSES TO VASCULAR STIFFNESS MODIFIED BY ANTI-HYPERTENSIVE USE AND COPY NUMBER CHANGES IN NCF1

od Kozel, Beth A., Danback, Joshua, Waxler, Jessica, Knutsen, Russell H., Fuentes, Lisa de las, Reusz, Gyorgy S., Kis, Eva, Bhatt, Ami, Pober, Barbara R
Izdano 2013

Elastin Insufficiency Predisposes Mice to Impaired Glucose Metabolism

od DeMarsilis, Antea J, Walji, Tezin A, Maedeker, Justine A, Stoka, Kellie V, Kozel, Beth A, Mecham, Robert P, Wagenseil, Jessica E, Craft, Clarissa S
Izdano u J Mol Genet Med (2014)

Whole-genome copy number variation analysis in anophthalmia and microphthalmia

od Schilter, Kala F., Reis, Linda M., Schneider, Adele, Bardakjian, Tanya M., Abdul-Rahman, Omar, Kozel, Beth A., Zimmerman, Holly H., Broeckel, Ulrich, Semina, Elena V.
Izdano 2013

Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study

od Addissie, Yonit A., Kruszka, Paul, Troia, Angela, Wong, Zoë C., Everson, Joshua L., Kozel, Beth A., Lipinski, Robert J., Malecki, Kristen M. C., Muenke, Maximilian
Izdano u Environ Health (2020)

Vascular Casting of Adult and Early Postnatal Mouse Lungs for Micro-CT Imaging

od Knutsen, Russell H., Gober, Leah M., Sukinik, Joseph R., Donahue, Danielle R., Kronquist, Elise K., Levin, Mark D., McLean, Sean E., Kozel, Beth A.
Izdano u J Vis Exp (2020)

Alternative Splicing and Tissue-specific Elastin Misassembly Act as Biological Modifiers of Human Elastin Gene Frameshift Mutations Associated with Dominant Cutis Laxa

od Sugitani, Hideki, Hirano, Eiichi, Knutsen, Russell H., Shifren, Adrian, Wagenseil, Jessica E., Ciliberto, Christopher, Kozel, Beth A., Urban, Zsolt, Davis, Elaine C., Broekelmann, Thomas J., Mecham, Robert P.
Izdano 2012

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion

od Cheng, Yu-Wei, Tan, Christopher A, Minor, Agata, Arndt, Kelly, Wysinger, Latrice, Grange, Dorothy K, Kozel, Beth A, Robin, Nathaniel H, Waggoner, Darrel, Fitzpatrick, Carrie, Das, Soma, del Gaudio, Daniela
Izdano 2014

The Exome Clinic and the Role of Medical Genetics Expertise in Interpretation of Exome Sequencing Results

od Baldridge, Dustin, Heeley, Jennifer, Vineyard, Marisa, Manwaring, Linda, Toler, Tomi L, Fassi, Emily, Fiala, Elise, Brown, Sarah, Goss, Charles W., Willing, Marcia, Grange, Dorothy K, Kozel, Beth A, Shinawi, Marwan
Izdano u Genet Med (2017)

Inhibition of NOX1 Mitigates Blood Pressure Increases in Elastin Insufficiency

od Troia, Angela, Knutsen, Russell H, Halabi, Carmen M, Malide, Daniela, Yu, Zu Xi, Wardlaw-Pickett, Amanda, Kronquist, Elise K, Tsang, Kit Man, Kovacs, Attila, Mecham, Robert P, Kozel, Beth A
Izdano u Function (Oxf) (2021)

K(ATP) channel gain-of-function leads to increased myocardial L-type Ca(2+) current and contractility in Cantu syndrome

od Levin, Mark D., Singh, Gautam K., Zhang, Hai Xia, Uchida, Keita, Kozel, Beth A., Stein, Phyllis K., Kovacs, Atilla, Westenbroek, Ruth E., Catterall, William A., Grange, Dorothy Katherine, Nichols, Colin G.
Izdano u Proc Natl Acad Sci U S A (2016)

Biomechanical Properties of the Skin in Cutis Laxa

od Kozel, Beth A., Su, Chi-Ting, Danback, Joshua R., Minster, Ryan L., Madan-Khetarpal, Suneeta, McConnell, Juliann, Mac Neal, Meghan K., Levine, Kara L., Wilson, Robert C., Sciurba, Frank C., Urban, Zsolt
Izdano 2014

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

od Reis, Linda M., Tyler, Rebecca C., Schilter, Kala F., Abdul-Rahman, Omar, Innis, Jeffrey W., Kozel, Beth A., Schneider, Adele S., Bardakjian, Tanya M., Lose, Edward J., Martin, Donna M., Broeckel, Ulrich, Semina, Elena V.
Izdano 2011