Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Jessica A Connor"'
Autor:
Alexander Miethke, Rachel Sheridan, Kejian Zhang, Jessica A Connor, Rebekah Karns, Monique L. Goldschmidt, Reena Mourya, Phillip J. Dexheimer, Jorge A. Bezerra
Publikováno v:
Hepatology Research. 46:306-311
Aim Single gene mutations cause syndromes of intrahepatic cholestasis, but previous multi-gene mutation screening in children with idiopathic cholestasis failed to fulfill diagnostic criteria in approximately two-thirds of children. In adults with fi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da9b9085593b2683f4234f271c38ec7b
https://doi.org/10.1111/hepr.12545
https://doi.org/10.1111/hepr.12545
Autor:
Diane Kissell, Alexandra H. Filipovich, Jessica A Connor, Nathaniel Barasa, Ammar Husami, Matthew T. Weirauch, C. Alexander Valencia, Yaping Qian, Kejian Zhang, Judith Johnson, Jeffery Schubert, Ge Zhang
Publikováno v:
Pediatric Blood & Cancer. 61:1034-1040
Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening disorder due to dysregulation of the immune system.The predominant symptoms are persistent fever, cytopenias,hepatosplenomegaly, hepatitis, sometimes associated with hyper-ferritine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::33c239fcb601dfcc98f0f016d21fc1eb
https://doi.org/10.1002/pbc.24955
https://doi.org/10.1002/pbc.24955
Autor:
Kristen L. Sund, Stephanie M. Ware, Jennifer Ruschman, Jessica A Connor, Robert B. Hinton, Erin M. Miller
Publikováno v:
Congenital Heart Disease. 9:158-167
Objective Clinical genetic testing is expanding rapidly, but the application of new testing has not been reported in an unselected, comprehensive congenital heart disease (CHD) patient population. This study aims to identify cytogenetic testing pract
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::45965df3aa1663d1e65554d60501406b
https://doi.org/10.1111/chd.12112
https://doi.org/10.1111/chd.12112
Publikováno v:
Journal of Molecular and Cellular Cardiology. 32:611-620
K. L. Golden, Q. I. Fan, B. Chen, J. Ren, J. O»Connor and J. D. Marsh. Adrenergic Stimulation Regulates Na+/Ca2+Exchanger Expression in Rat Cardiac Myocytes. Journal of Molecular and Cellular Cardiology (2000) 32, 611–620. The Na/Ca exchanger prot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfef6dc8cc169f9301806f9a37fe0442
https://doi.org/10.1006/jmcc.2000.1104
https://doi.org/10.1006/jmcc.2000.1104
Autor:
Shannon M. Standridge, Hansel M. Greiner, Derek E. Neilson, Sarah A. Hrabik, Valentina Pilipenko, Jessica A Connor, Sarah L. Zimmerman, Christine G. Spaeth
Publikováno v:
Journal of child neurology. 30(13)
Microarray testing has revolutionized clinical cytogenetics, as it provides a significantly higher resolution and greater clinical yield than karyotype analysis. This study assessed the clinical utility of single-nucleotide polymorphism microarray in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48f8d726d7f75e37925731412ea98222
https://pubmed.ncbi.nlm.nih.gov/25862739
https://pubmed.ncbi.nlm.nih.gov/25862739
Autor:
Yaping, Qian, Judith A, Johnson, Jessica A, Connor, C Alexander, Valencia, Nathaniel, Barasa, Jeffery, Schubert, Ammar, Husami, Diane, Kissell, Ge, Zhang, Matthew T, Weirauch, Alexandra H, Filipovich, Kejian, Zhang
Publikováno v:
Pediatric bloodcancer. 61(6)
The mutations in UNC13D are responsible for familial hemophagocytic lymphohistiocytosis (FHL) type 3. A 253-kb inversion and two deep intronic mutations, c.118-308CT and c.118-307GA, in UNC13D were recently reported in European and Asian FHL3 patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::389df51a5a6179bcd8d16df39b7c32d5
https://pubmed.ncbi.nlm.nih.gov/24616126
https://pubmed.ncbi.nlm.nih.gov/24616126
Autor:
Jessica A, Connor, Robert B, Hinton, Erin M, Miller, Kristen L, Sund, Jennifer G, Ruschman, Stephanie M, Ware
Publikováno v:
Congenital heart disease. 9(2)
Clinical genetic testing is expanding rapidly, but the application of new testing has not been reported in an unselected, comprehensive congenital heart disease (CHD) patient population. This study aims to identify cytogenetic testing practices and d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7f4581dd578c8c92f152c53b502a1487
https://pubmed.ncbi.nlm.nih.gov/24591036
https://pubmed.ncbi.nlm.nih.gov/24591036
Autor:
Chao Wei, Jenice Brown, C. Alexander Valencia, Sarah Dell, India Cole, Abhinav Mathur, Jessica A Connor, Subba Rao Indugula, Kejian Zhang
Publikováno v:
Blood. 124:660-661
To the editor: We routinely perform clinical exome sequencing on blood samples from patients without bone marrow transplants (BMTs). Moreover, we accept saliva samples due to the acceptable DNA quality, noninvasiveness, and improved percentage of par
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f720f1ccd9a877163fc0736f71a39c9f
https://doi.org/10.1182/blood-2014-04-572941
https://doi.org/10.1182/blood-2014-04-572941
Autor:
Tamara Maghathe, Satheesh Chonat, Jessica A Connor, Kejian Zhang, Mary Risinger, Amber Begtrup, Jennifer A. Rothman, Neha Dagaonkar, Karen Kalinyak, Theodosia A. Kalfa
Publikováno v:
Blood. 126:941-941
Hereditary spherocytosis (HS) is a genetically and phenotypically heterogeneous hemolytic anemia caused by deficiency in red blood cell (RBC) cytoskeleton proteins leading to disruptions in the vertical association of the cytoskeleton with the RBC li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ded86109d059b3359e1267fc1039968
https://doi.org/10.1182/blood.v126.23.941.941
https://doi.org/10.1182/blood.v126.23.941.941
Autor:
Jessica Anne Connor
Publikováno v:
Seminars in pediatric surgery. 15(4)
An examination of and recommendations regarding the approval process for medical devices are presented. The typical pathways and hurdles laid out by the Federal Food and Drug Administration (FDA) are discussed, and options for marketing and use of me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b954c228cbb3267d7e68df20400d8822
https://pubmed.ncbi.nlm.nih.gov/17055960
https://pubmed.ncbi.nlm.nih.gov/17055960