OpenURL Connection Search

Select item for more details and to access through your institution.

Gastrointestinal manifestations in Williams syndrome: A prospective analysis of an adult and pediatric cohort.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63827
By:
- Boechler, Michael;
- Fu, Yi‐Ping;
- Raja, Neelam;
- Ruiz‐Escobar, Emily;
- Nimmagadda, Likitha;
- Osgood, Sharon;
- Levin, Mark D.;
- Hadigan, Colleen;
- Kozel, Beth A.
Publication type:
Article
Copper-Binding Domain Variation in a Novel Murine Lysyl Oxidase Model Produces Structurally Inferior Aortic Elastic Fibers Whose Failure Is Modified by Age, Sex, and Blood Pressure.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 12, p. 6749, doi. 10.3390/ijms23126749
By:
- Tsang, Kit Man;
- Knutsen, Russell H.;
- Billington Jr., Charles J.;
- Lindberg, Eric;
- Steenbock, Heiko;
- Fu, Yi-Ping;
- Wardlaw-Pickett, Amanda;
- Liu, Delong;
- Malide, Daniela;
- Yu, Zu-Xi;
- Bleck, Christopher K. E.;
- Brinckmann, Jürgen;
- Kozel, Beth A.
Publication type:
Article
Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams–Beuren syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1008, doi. 10.1002/ajmg.a.61522
By:
- Lugo, Michael;
- Wong, Zoë C.;
- Billington, Charles J.;
- Parrish, Phoebe C. R.;
- Muldoon, Glennis;
- Liu, Delong;
- Pober, Barbara R.;
- Kozel, Beth A.
Publication type:
Article
Skin findings in Williams syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2217, doi. 10.1002/ajmg.a.36628
By:
- Kozel, Beth A.;
- Bayliss, Susan J.;
- Berk, David R.;
- Waxler, Jessica L.;
- Knutsen, Russell H.;
- Danback, Joshua R.;
- Pober, Barbara R.
Publication type:
Article
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
Published in:
Human Genetics, 2011, v. 130, n. 4, p. 495, doi. 10.1007/s00439-011-0968-y
By:
- Reis, Linda;
- Tyler, Rebecca;
- Schilter, Kala;
- Abdul-Rahman, Omar;
- Innis, Jeffrey;
- Kozel, Beth;
- Schneider, Adele;
- Bardakjian, Tanya;
- Lose, Edward;
- Martin, Donna;
- Broeckel, Ulrich;
- Semina, Elena
Publication type:
Article
Cardiac pathologies in mouse loss of imprinting models are due to misexpression of H19 long noncoding RNA.
Published in:
eLife, 2021, p. 1, doi. 10.7554/eLife.67250
By:
- Ki-Sun Park;
- Rahat, Beenish;
- Hyung Chul Lee;
- Zu-Xi Yu;
- Noeker, Jacob;
- Mitra, Apratim;
- Kean, Connor M.;
- Knutsen, Russell H.;
- Springer, Danielle;
- Gebert, Claudia M.;
- Kozel, Beth A.;
- Pfeifer, Karl
Publication type:
Article
Variegation of autism related traits across seven neurogenetic disorders.
Published in:
Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-01895-0
By:
- Lee, Nancy Raitano;
- Niu, Xin;
- Zhang, Fengqing;
- Clasen, Liv S.;
- Kozel, Beth A.;
- Smith, Ann C. M.;
- Wallace, Gregory L.;
- Raznahan, Armin
Publication type:
Article
Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23].
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 9, p. -1, doi. 10.1038/ejhg.2014.28
By:
- Koehler, Udo;
- Pabst, Brigitte;
- Pober, Barbara;
- Kozel, Beth
Publication type:
Article
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 176, doi. 10.1038/ejhg.2011.171
By:
- Nagamani, Sandesh C Sreenath;
- Erez, Ayelet;
- Bay, Carolyn;
- Pettigrew, Anjana;
- Lalani, Seema R;
- Herman, Kristin;
- Graham, Brett H;
- Nowaczyk, Malgorzata JM;
- Proud, Monica;
- Craigen, William J;
- Hopkins, Bobbi;
- Kozel, Beth;
- Plunkett, Katie;
- Hixson, Patricia;
- Stankiewicz, Pawel;
- Patel, Ankita;
- Cheung, Sau Wai
Publication type:
Article
A comparative evaluation of ChatGPT 3.5 and ChatGPT 4 in responses to selected genetics questions.
Published in:
Journal of the American Medical Informatics Association, 2024, v. 31, n. 10, p. 2271, doi. 10.1093/jamia/ocae128
By:
- McGrath, Scott P;
- Kozel, Beth A;
- Gracefo, Sara;
- Sutherland, Nykole;
- Danford, Christopher J;
- Walton, Nephi
Publication type:
Article
NIH Toolbox Cognition Battery Feasibility in Individuals With Williams Syndrome.
Published in:
2022
By:
- Condy, Emma E.;
- Becker, Lindsey;
- Farmer, Cristan;
- Kaat, Aaron J.;
- Chlebowski, Colby;
- Kozel, Beth A.;
- Thurm, Audrey
Publication type:
journal article
Baz1b Dosage Influences Cardiovascular Function, Predisposing to Dilated Cardiomyopathy.
Published in:
FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.R2293
By:
- McIntosh, Basil;
- Knutsen, Russell;
- Levin, Mark;
- Fu, Yi‐Ping;
- Springer, Danielle;
- Kronquist, Elise;
- Pai, Christopher;
- Heuckeroth, Robert;
- Kozel, Beth
Publication type:
Article
Impaired angiogenesis and extracellular matrix metabolism in autosomal-dominant hyper-IgE syndrome.
Published in:
2020
By:
- Dmitrieva, Natalia I.;
- Walts, Avram D.;
- Nguyen, Dai Phuong;
- Grubb, Alex;
- Xue Zhang;
- Xujing Wang;
- Xianfeng Ping;
- Hui Jin;
- Zhen Yu;
- Zu-Xi Yu;
- Dan Yang;
- Schwartzbeck, Robin;
- Dalgard, Clifton L.;
- Kozel, Beth A.;
- Levin, Mark D.;
- Knutsen, Russell H.;
- Liu, Delong;
- Milner, Joshua D.;
- López, Diego B.;
- O'Connell, Michael P.
Publication type:
journal article
Frequency of QTc Interval Prolongation in Children and Adults with Williams Syndrome.
Published in:
Pediatric Cardiology, 2022, v. 43, n. 7, p. 1559, doi. 10.1007/s00246-022-02883-3
By:
- Brink, Benjamin D.;
- Feinn, Richard;
- Kozel, Beth A.;
- Billington Jr, Charles J.;
- Liu, Delong;
- Yu, Eric;
- Sindhar, Sampat;
- He, Julie;
- Rouse, Charles;
- Lampert, Rachel;
- Pober, Barbara R.;
- Elder, Robert W.
Publication type:
Article
Identifying environmental risk factors and gene–environment interactions in holoprosencephaly.
Published in:
Birth Defects Research, 2021, v. 113, n. 1, p. 63, doi. 10.1002/bdr2.1834
By:
- Addissie, Yonit A.;
- Troia, Angela;
- Wong, Zoe C.;
- Everson, Joshua L.;
- Kozel, Beth A.;
- Muenke, Maximilian;
- Lipinski, Robert J.;
- Malecki, Kristen M.C.;
- Kruszka, Paul
Publication type:
Article
Biomechanical Properties of the Skin in Cutis Laxa.
Published in:
Journal of Investigative Dermatology, 2014, v. 134, n. 11, p. 2836, doi. 10.1038/jid.2014.224
By:
- Kozel, Beth A;
- Su, Chi-Ting;
- Danback, Joshua R;
- Minster, Ryan L;
- Madan-Khetarpal, Suneeta;
- McConnell, Juliann S;
- Mac Neal, Meghan K;
- Levine, Kara L;
- Wilson, Robert C;
- Sciurba, Frank C;
- Urban, Zsolt
Publication type:
Article
Effects of Obesity and Hypertension on Pulse Wave Velocity in Children.
Published in:
2017
By:
- Kulsum ‐ Mecci, Nazia;
- Goss, Charles;
- Kozel, Beth A.;
- Garbutt, Jane M.;
- Schechtman, Kenneth B.;
- Dharnidharka, Vikas R.;
- Kulsum-Mecci, Nazia
Publication type:
journal article
Exome sequencing of 85 Williams–Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.
Published in:
Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 5, p. 749, doi. 10.1002/mgg3.429
By:
- Kopp, Nathan D.;
- Parrish, Phoebe C. R.;
- Lugo, Michael;
- Dougherty, Joseph D.;
- Kozel, Beth A.
Publication type:
Article
Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.
Published in:
Journal of the American Heart Association, 2024, v. 13, n. 8, p. 1, doi. 10.1161/JAHA.123.034048
By:
- Stephens, Sara B.;
- Novy, Tyler;
- Spurzem, Gabrielle N.;
- Jacob, Benjamin;
- Beecroft, Taylor;
- Soludczyk, Emily;
- Kozel, Beth A.;
- Weigand, Justin;
- Morris, Shaine A.
Publication type:
Article
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.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 12, p. 2035, doi. 10.1093/hmg/ddaa093
By:
- Parrish, Phoebe C R;
- Liu, Delong;
- Knutsen, Russell H;
- Billington, Charles J;
- Mecham, Robert P;
- Fu, Yi-Ping;
- Kozel, Beth A
Publication type:
Article
Elastic fiber formation: A dynamic view of extracellular matrix assembly using timer reporters<FNR></FNR><FN>This article includes Supplementary Material available from the authors upon request or via the Internet at <URL>http://www.interscience.wiley.com/jpages/0021-9541/suppmat</URL>. </FN>
Published in:
Journal of Cellular Physiology, 2006, v. 207, n. 1, p. 87, doi. 10.1002/jcp.20546
By:
- Kozel, Beth A.;
- Rongish, Brenda J.;
- Czirok, Andras;
- Zach, Julia;
- Little, Charles D.;
- Davis, Elaine C.;
- Knutsen, Russell H.;
- Wagenseil, Jessica E.;
- Levy, Marilyn A.;
- Mecham, Robert P.
Publication type:
Article
Elastic fiber macro-assembly is a hierarchical, cell motion-mediated process.
Published in:
Journal of Cellular Physiology, 2006, v. 207, n. 1, p. 97, doi. 10.1002/jcp.20573
By:
- Czirok, Andras;
- Zach, Julia;
- Kozel, Beth A.;
- Mecham, Robert P.;
- Davis, Elaine C.;
- Rongish, Brenda J.
Publication type:
Article
Airflow Obstruction in Adults with Williams Syndrome and Mice with Elastin Insufficiency.
Published in:
Diagnostics (2075-4418), 2022, v. 12, n. 6, p. 1438, doi. 10.3390/diagnostics12061438
By:
- Kronquist, Elise K.;
- Kaur, Maninder;
- Gober, Leah M.;
- Knutsen, Russell H.;
- Fu, Yi-Ping;
- Yu, Zu-Xi;
- Donahue, Danielle R.;
- Chen, Marcus Y.;
- Osgood, Sharon;
- Raja, Neelam;
- Levin, Mark D.;
- Barochia, Amisha;
- Kozel, Beth A.
Publication type:
Article
X‐ray microtomosynthesis of unstained pathology tissue samples.
Published in:
Journal of Microscopy, 2021, v. 283, n. 1, p. 9, doi. 10.1111/jmi.13003
By:
- Nguyen, David T.;
- Larsen, Thomas C.;
- Wang, Muyang;
- Knutsen, Russel H.;
- Yang, Zhihong;
- Bennett, Eric E.;
- Mazilu, Dumitru;
- Yu, Zu‐Xi;
- Tao, Xi;
- Donahue, Danielle R.;
- Gharib, Ahmed M.;
- Bleck, Christopher K. E.;
- Moss, Joel;
- Remaley, Alan T.;
- Kozel, Beth A.;
- Wen, Han
Publication type:
Article
Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study.
Published in:
2020
By:
- 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
Publication type:
journal article

Found: 25