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

Por Kozel, Beth A., Knutsen, Russell H., Ye, Li, Ciliberto, Christopher H., Broekelmann, Thomas J., Mecham, Robert P.
Publicado em 2011

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

Por Halabi, Carmen M., Broekelmann, Thomas J., Knutsen, Russell H., Ye, Li, Mecham, Robert P., Kozel, Beth A.
Publicado no Am J Physiol Heart Circ Physiol (2015)

Altered reactivity of resistance vasculature contributes to hypertension in elastin insufficiency

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

Skin Findings in Williams Syndrome

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

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

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

Elastin Insufficiency Predisposes Mice to Impaired Glucose Metabolism

Por DeMarsilis, Antea J, Walji, Tezin A, Maedeker, Justine A, Stoka, Kellie V, Kozel, Beth A, Mecham, Robert P, Wagenseil, Jessica E, Craft, Clarissa S
Publicado no J Mol Genet Med (2014)

Whole-genome copy number variation analysis in anophthalmia and microphthalmia

Por 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.
Publicado em 2013

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

Por 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.
Publicado em 2012

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

Por 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
Publicado em 2014

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

Por 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.
Publicado no Proc Natl Acad Sci U S A (2016)

Biomechanical Properties of the Skin in Cutis Laxa

Por 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
Publicado em 2014

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

Por 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.
Publicado em 2011

Hypercalcemia in Patients with Williams-Beuren Syndrome

Por Sindhar, Sampat, Lugo, Michael, Levin, Mark D., Danback, Joshua R., Brink, Benjamin D., Yu, Eric, Dietzen, Dennis J., Clark, Amy L., Purgert, Carolyn A., Waxler, Jessica L., Elder, Robert W., Pober, Barbara R., Kozel, Beth A.
Publicado no J Pediatr (2016)

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Por Shinawi, Marwan, Liu, Pengfei, Kang, Sung-Hae L, Shen, Joseph, Belmont, John W, Scott, Daryl A, Probst, Frank J, Craigen, William J, Graham, Brett H, Pursley, Amber, Clark, Gary, Lee, Jennifer, Proud, Monica, Stocco, Amber, Rodriguez, Diana L, Kozel, Beth A, Sparagana, Steven, Roeder, Elizabeth R, McGrew, Susan G, Kurczynski, Thaddeus W, Allison, Leslie J, Amato, Stephen, Savage, Sarah, Patel, Ankita, Stankiewicz, Pawel, Beaudet, Arthur L, Cheung, Sau Wai, Lupski, James R
Publicado em 2009