Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes
Shalhub, Sherene, MD, MPH, Black, James H., MD, Cecchi, Alana C., MS, Xu, Zhi, PhD, Griswold, Ben F., BS, Safi, Hazim J., MD, Milewicz, Dianna M., MD, PhD, McDonnell, Nazli B., MD, PhD
Published in Journal of vascular surgery (01.07.2014)
Published in Journal of vascular surgery (01.07.2014)
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Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome
Blackburn, Patrick R., Xu, Zhi, Tumelty, Kathleen E., Zhao, Rose W., Monis, William J., Harris, Kimberly G., Gass, Jennifer M., Cousin, Margot A., Boczek, Nicole J., Mitkov, Mario V., Cappel, Mark A., Francomano, Clair A., Parisi, Joseph E., Klee, Eric W., Faqeih, Eissa, Alkuraya, Fowzan S., Layne, Matthew D., McDonnell, Nazli B., Atwal, Paldeep S.
Published in American journal of human genetics (05.04.2018)
Published in American journal of human genetics (05.04.2018)
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sFRP2 in the aged microenvironment drives melanoma metastasis and therapy resistance
Kaur, Amanpreet, Webster, Marie R., Marchbank, Katie, Behera, Reeti, Ndoye, Abibatou, Kugel, Curtis H., Dang, Vanessa M., Appleton, Jessica, O’Connell, Michael P., Cheng, Phil, Valiga, Alexander A., Morissette, Rachel, McDonnell, Nazli B., Ferrucci, Luigi, Kossenkov, Andrew V., Meeth, Katrina, Tang, Hsin-Yao, Yin, Xiangfan, Wood, William H., Lehrmann, Elin, Becker, Kevin G., Flaherty, Keith T., Frederick, Dennie T., Wargo, Jennifer A., Cooper, Zachary A., Tetzlaff, Michael T., Hudgens, Courtney, Aird, Katherine M., Zhang, Rugang, Xu, Xiaowei, Liu, Qin, Bartlett, Edmund, Karakousis, Giorgos, Eroglu, Zeynep, Lo, Roger S., Chan, Matthew, Menzies, Alexander M., Long, Georgina V., Johnson, Douglas B., Sosman, Jeffrey, Schilling, Bastian, Schadendorf, Dirk, Speicher, David W., Bosenberg, Marcus, Ribas, Antoni, Weeraratna, Ashani T.
Published in Nature (London) (14.04.2016)
Published in Nature (London) (14.04.2016)
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Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-β expression and connective tissue features
Ganesh, Santhi K, Morissette, Rachel, Xu, Zhi, Schoenhoff, Florian, Griswold, Benjamin F, Yang, Jiandong, Tong, Lan, Yang, Min-Lee, Hunker, Kristina, Sloper, Leslie, Kuo, Shinie, Raza, Rafi, Milewicz, Dianna M, Francomano, Clair A, Dietz, Harry C, Van Eyk, Jennifer, McDonnell, Nazli B
Published in The FASEB journal (01.08.2014)
Published in The FASEB journal (01.08.2014)
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Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers–Danlos syndrome
Shalhub, Sherene, Neptune, Enid, Sanchez, Desiree E., Dua, Anahita, Arellano, Nelson, McDonnell, Nazli B., Milewicz, Dianna M.
Published in American journal of medical genetics. Part A (01.05.2019)
Published in American journal of medical genetics. Part A (01.05.2019)
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Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Finkielstain, Gabriela P, Chen, Wuyan, Mehta, Sneha P, Fujimura, Frank K, Hanna, Reem M, Van Ryzin, Carol, McDonnell, Nazli B, Merke, Deborah P
Published in The journal of clinical endocrinology and metabolism (01.01.2011)
Published in The journal of clinical endocrinology and metabolism (01.01.2011)
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Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families
Nandagopal, Radha, Sinaii, Ninet, Avila, Nilo A, Van Ryzin, Carol, Chen, Wuyan, Finkielstain, Gabriela P, Mehta, Sneha P, McDonnell, Nazli B, Merke, Deborah P
Published in European journal of endocrinology (01.06.2011)
Published in European journal of endocrinology (01.06.2011)
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Circulating Transforming Growth Factor-β in Marfan Syndrome
MATT, Peter, SCHOENHOFF, Florian, LOEYS, Bart, HUSO, David L, MCDONNELL, Nazli B, VAN EYK, Jennifer E, DIETZ, Harry C, HABASHI, Jennifer, HOLM, Tammy, VAN ERP, Christel, LOCH, David, CARLSON, Olga D, GRISWOLD, Benjamin F, QIN FU, DE BACKER, Julie
Published in Circulation (New York, N.Y.) (11.08.2009)
Published in Circulation (New York, N.Y.) (11.08.2009)
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Tumor Necrosis Factor–Related Apoptosis-Inducing Ligand Receptor Deficiency Promotes the Ductular Reaction, Macrophage Accumulation, and Hepatic Fibrosis in the Abcb4−/− Mouse
Krishnan, Anuradha, Katsumi, Tomohiro, Guicciardi, Maria E., Azad, Adiba I., Ozturk, Nazli B., Trussoni, Christy E., Gores, Gregory J.
Published in The American journal of pathology (01.06.2020)
Published in The American journal of pathology (01.06.2020)
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Comprehensive mutation analysis of the CYP21A2 gene: an efficient multistep approach to the molecular diagnosis of congenital adrenal hyperplasia
Xu, Zhi, Chen, Wuyan, Merke, Deborah P, McDonnell, Nazli B
Published in The Journal of molecular diagnostics : JMD (01.11.2013)
Published in The Journal of molecular diagnostics : JMD (01.11.2013)
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Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia
Morissette, Rachel, Chen, Wuyan, Perritt, Ashley F, Dreiling, Jennifer L, Arai, Andrew E, Sachdev, Vandana, Hannoush, Hwaida, Mallappa, Ashwini, Xu, Zhi, McDonnell, Nazli B, Quezado, Martha, Merke, Deborah P
Published in The journal of clinical endocrinology and metabolism (01.08.2015)
Published in The journal of clinical endocrinology and metabolism (01.08.2015)
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Journal Article
Tenascin-X Haploinsufficiency Associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia
Merke, Deborah P, Chen, Wuyan, Morissette, Rachel, Xu, Zhi, Van Ryzin, Carol, Sachdev, Vandana, Hannoush, Hwaida, Shanbhag, Sujata M, Acevedo, Ana T, Nishitani, Miki, Arai, Andrew E, McDonnell, Nazli B
Published in The journal of clinical endocrinology and metabolism (01.02.2013)
Published in The journal of clinical endocrinology and metabolism (01.02.2013)
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Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue
Milhorat, Thomas H, Bolognese, Paolo A, Nishikawa, Misao, McDonnell, Nazli B, Francomano, Clair A
Published in Journal of neurosurgery. Spine (01.12.2007)
Published in Journal of neurosurgery. Spine (01.12.2007)
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