Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Daniel B. Bellissimo"'
Autor:
Joshua L. Deignan, Vimla Aggarwal, Allen E. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao, Kristy R. Crooks, Kristen L. Deak, Daniela Del Gaudio, Birgit Funke, Nicole L. Hoppman, Vanessa Horner, Robert B. Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L. Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M. Mikhail, Stephen R. Moore, Rizwan C. Naeem, Laura M. Pollard, Elena A. Repnikova, Lina Shao, Brandon M. Shaw, Shashirekha Shetty, Teresa A. Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H. Vance, Cindy L. Vnencak-Jones, Eli S. Williams
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101820- (2024)
Purpose: The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches between clinical molecular genetics and clinical cytogenetics. However, there has n
Externí odkaz:
https://doaj.org/article/06de2e3b5f9244b89cae6954ab35c034
Autor:
Pamela A. Christopherson, Sandra L. Haberichter, Veronica H. Flood, Crystal L. Perry, Brooke E. Sadler, Daniel B. Bellissimo, Jorge Di Paola, Robert R. Montgomery, T Abshire, H Weiler, D Lillicrap, P James, J O’Donnell, C Ng, C Bennett, R Sidonio, M Manco‐Johnson, J Journeycake, A Zia, J Lusher, M Rajpurkar, A Shapiro, S Lentz, J Gill, C Leissinger, M Ragni, M Tarantino, J Roberts, J Hord, J Strouse, A Ma, L Valentino, L Boggio, A Sharathkumar, R Gruppo, B Kerlin, R Kulkarni, D Green, K Hoots, D Brown, D Mahoney, L Mathias, A Bedros, C Diamond, A Neff, D DiMichele, P Giardina, A Cohen, M Paidas, E Werner, A Matsunaga, F Shafer, B Konkle, A Cuker, P Kouides, D Stein
Publikováno v:
Journal of thrombosis and haemostasis : JTHREFERENCES. 20(7)
Type 3 von Willebrand Disease (VWD) is a rare and severe form of VWD characterized by the absence of von Willebrand factor (VWF).As part of the Zimmerman Program, we sought to explore the molecular pathogenesis, correlate bleeding phenotype and sever
Autor:
Suneeta Madan-Khetarpal, Aleksandar Rajkovic, Mahmoud Aarabi, Svetlana A. Yatsenko, Elena Kessler, Urvashi Surti, Daniel B. Bellissimo
Publikováno v:
European Journal of Medical Genetics. 62:239-242
Proper function of GABAergic synapses depends upon the postsynaptic compartment anchoring of neurotransmitter receptors to the membrane by gephyrin and collybistin (Cb). In humans, Cb is encoded by ARHGEF9 on Xq11.1. ARHGEF9 alterations, some inherit
Autor:
Svetlana Yatsenko, Urvashi Surti, Damara Ortiz, Aleksandar Rajkovic, Suneeta Madan-Khetarpal, Mahmoud Aarabi, Devereux N. Saller, Jie Hu, Daniel B. Bellissimo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8cbefb2c283ee7e03012baebb95bb40d
https://doi.org/10.1111/cge.13852/v2/response1
https://doi.org/10.1111/cge.13852/v2/response1
Autor:
Maria M. Brooks, Eric H. Kraut, Margaret V. Ragni, Craig D. Seaman, Leslie J. Raffini, Annette von Drygalski, Daniel B. Bellissimo, Rajiv K. Pruthi, Jonathan C. Roberts, Peter A. Kouides
Publikováno v:
Blood. 138:1044-1044
Introduction It is well established that von Willebrand factor (VWF) levels increase with age among healthy adults. Recently, there is emerging research demonstrating this may also occur in patients with von Willebrand disease (VWD), particularly typ
Autor:
Jie Hu, Suneeta Madan-Khetarpal, Devereux N. Saller, Daniel B. Bellissimo, Mahmoud Aarabi, Damara Ortiz, Urvashi Surti, Aleksandar Rajkovic, Svetlana A. Yatsenko
Publikováno v:
Clinical geneticsREFERENCES. 98(6)
In clinical exome/genome sequencing, the American College of Medical Genetics and Genomics (ACMG) recommends reporting of secondary findings unrelated to a patient's phenotype when pathogenic single-nucleotide variants (SNVs) are observed in one of 5
Autor:
Karyn Megy, Michele P. Lambert, Anne Goodeve, Willem H. Ouwehand, Paolo Gresele, Loredana Bury, Kathleen Freson, Rutendo Mapeta, Paul F. Bray, Ilenia Simeoni, Daniel B. Bellissimo, Joannella Morales, Kate Downes, Pieter H. Reitsma
Publikováno v:
Journal of Thrombosis and Haemostasis
Journal of Thrombosis and Haemostasis, 17(8), 1253-1260. WILEY
Journal of Thrombosis and Haemostasis, 17(8), 1253-1260. WILEY
ispartof: JOURNAL OF THROMBOSIS AND HAEMOSTASIS vol:17 issue:8 pages:1253-1260 ispartof: location:England status: published
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b49f16078455cf5666bf99923b6fb6df
https://lirias.kuleuven.be/handle/123456789/638314
https://lirias.kuleuven.be/handle/123456789/638314
Autor:
Sandra L. Haberichter, Robert R. Montgomery, Caroline E Kochelek, Jill M. Johnsen, Rupa A Udani, Kenneth D. Friedman, Pamela A. Christopherson, Tricia L Slobodianuk, Daniel B. Bellissimo, Veronica H. Flood
Publikováno v:
Research and Practice in Thrombosis and Haemostasis
Essentials Specific sequence variants in the VWF D′D3 region are associated with elevated VWF antigen levels.VWF levels and variant frequencies were examined in both European and Caucasian Americans.Subjects homozygous for D′D3 variants had the h
Autor:
Olivia Sniezek, Devereux N. Saller, Aleksandar Rajkovic, Huaiyang Jiang, Daniel B. Bellissimo, Mahmoud Aarabi, Svetlana A. Yatsenko
Publikováno v:
Human Genetics. 137:175-181
Whole exome sequencing (WES) is an emerging technique in prenatal diagnosis. In this retrospective study, we examined diagnostic utility and limitations of WES in prenatal cases with structural birth defects. DNA from 20 trios (fetal and parental), w
Autor:
Svetlana A. Yatsenko, Jie Hu, Daniel B. Bellissimo, Lori Hoffner, Urvashi Surti, W. Tony Parks
Publikováno v:
Placenta. 57:33-41
Introduction The genetics and pathology of diploid complete and triploid partial hydatidiform moles have been well established. Enlarged cystic placenta often indicates an underlying etiology and is frequently associated with adverse pregnancy outcom