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Beth A. Kozel
标题
引用次数
引用次数
年份
Recurrent reciprocal 16p11. 2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
M Shinawi, P Liu, SHL Kang, J Shen, JW Belmont, DA Scott, FJ Probst, ...
Journal of medical genetics 47 (5), 332-341, 2010
5902010
Elastic fiber formation: a dynamic view of extracellular matrix assembly using timer reporters
BA Kozel, BJ Rongish, A Czirok, J Zach, CD Little, EC Davis, RH Knutsen, ...
Journal of cellular physiology 207 (1), 87-96, 2006
2092006
Tropoelastin interacts with cell-surface glycosaminoglycans via its COOH-terminal domain
TJ Broekelmann, BA Kozel, H Ishibashi, CC Werneck, FW Keeley, ...
Journal of Biological Chemistry 280 (49), 40939-40947, 2005
1932005
Williams syndrome
BA Kozel, B Barak, CA Kim, CB Mervis, LR Osborne, M Porter, BR Pober
Nature Reviews Disease Primers 7 (1), 42, 2021
1562021
Domains in tropoelastin that mediate elastin depositionin vitro and in vivo
BA Kozel, H Wachi, EC Davis, RP Mecham
Journal of Biological Chemistry 278 (20), 18491-18498, 2003
1512003
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome
LM Reis, RC Tyler, KF Schilter, O Abdul-Rahman, JW Innis, BA Kozel, ...
Human genetics 130, 495-504, 2011
1322011
A dyadic approach to the delineation of diagnostic entities in clinical genomics
LG Biesecker, MP Adam, FS Alkuraya, AR Amemiya, MJ Bamshad, ...
The American Journal of Human Genetics 108 (1), 8-15, 2021
1182021
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes
SM Ware, N El-Hassan, SG Kahler, Q Zhang, E Miller, B Wong, RL Spicer, ...
Journal of medical genetics 46 (5), 308-314, 2009
1092009
Elastic fiber macro‐assembly is a hierarchical, cell motion‐mediated process
A Czirok, J Zach, BA Kozel, RP Mecham, EC Davis, BJ Rongish
Journal of cellular physiology 207 (1), 97-106, 2006
1072006
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results
D Baldridge, J Heeley, M Vineyard, L Manwaring, TL Toler, E Fassi, ...
Genetics in Medicine 19 (9), 1040-1048, 2017
1032017
Deposition of tropoelastin into the extracellular matrix requires a competent elastic fiber scaffold but not live cells
BA Kozel, CH Ciliberto, RP Mecham
Matrix biology 23 (1), 23-34, 2004
952004
Elastin-driven genetic diseases
MLD Lasio, BA Kozel
Matrix Biology 71, 144-160, 2018
902018
Williams Syndrome Predisposes to Vascular Stiffness Modified by Antihypertensive Use and Copy Number Changes in NCF1
BA Kozel, JR Danback, JL Waxler, RH Knutsen, L de Las Fuentes, ...
Hypertension 63 (1), 74-79, 2014
852014
Williams–Beuren syndrome in diverse populations
P Kruszka, AR Porras, DH De Souza, A Moresco, V Huckstadt, AD Gill, ...
American Journal of Medical Genetics Part A 176 (5), 1128-1136, 2018
772018
Effects of obesity and hypertension on pulse wave velocity in children
N Kulsum‐Mecci, C Goss, BA Kozel, JM Garbutt, KB Schechtman, ...
The Journal of Clinical Hypertension 19 (3), 221-226, 2017
682017
Elastic fiber ultrastructure and assembly
BA Kozel, RP Mecham
Matrix Biology 84, 31-40, 2019
652019
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44
SCS Nagamani, A Erez, C Bay, A Pettigrew, SR Lalani, K Herman, ...
European Journal of Human Genetics 20 (2), 176-179, 2012
632012
Hypercalcemia in patients with Williams-Beuren syndrome
S Sindhar, M Lugo, MD Levin, JR Danback, BD Brink, E Yu, DJ Dietzen, ...
The Journal of pediatrics 178, 254-260. e4, 2016
572016
Whole‐genome copy number variation analysis in anophthalmia and microphthalmia
KF Schilter, LM Reis, A Schneider, TM Bardakjian, O Abdul‐Rahman, ...
Clinical genetics 84 (5), 473-481, 2013
552013
Minoxidil improves vascular compliance, restores cerebral blood flow, and alters extracellular matrix gene expression in a model of chronic vascular stiffness
RH Knutsen, SC Beeman, TJ Broekelmann, D Liu, KM Tsang, A Kovacs, ...
American Journal of Physiology-Heart and Circulatory Physiology 315 (1), H18-H32, 2018
542018
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